Presence Of Chromosomal Aberrations Research Articles

Chromosome genomics facilitates the marker development and selection of wheat-Aegilops biuncialis addition, substitution and translocation lines

The annual goatgrass, Aegilops biuncialis is a rich source of genes with considerable agronomic value. This genetic potential can be exploited for wheat improvement through interspecific hybridization to increase stress resistance, grain quality and adaptability. However, the low throughput of cytogenetic selection hampers the development of alien introgressions. Using the sequence of flow-sorted chromosomes of diploid progenitors, the present study enabled the development of chromosome-specific markers. In total, 482 PCR markers were validated on wheat (Mv9kr1) and Ae. biuncialis (MvGB642) crossing partners, and 126 on wheat-Aegilops additions. Thirty-two markers specific for U- or M-chromosomes were used in combination with GISH and FISH for the screening of 44 Mv9kr1 × Ae. biuncialis BC3F3 genotypes. The predominance of chromosomes 4M and 5M, as well as the presence of chromosomal aberrations, may indicate that these chromosomes have a gametocidal effect. A new wheat-Ae. biuncialis disomic 4U addition, 4M(4D) and 5M(5D) substitutions, as well as several introgression lines were selected. Spike morphology and fertility indicated that the Aegilops 4M or 5M compensated well for the loss of 4D and 5D, respectively. The new cytogenetic stocks represent valuable genetic resources for the introgression of key genes alleles into wheat.

Single and mixture cytogenetic effects evaluation of atrazine and glyphosate herbicides at environmentally relevant concentrations on Allium cepa root meristem cells

The mixture of pesticides is employed to obtain other mechanisms of action on target organisms. The herbicides atrazine and glyphosate are used worldwide to control weeds in agricultural crops, and their indiscriminate use results in their constant presence in the environment. In this sense, this study aimed to evaluate the cytotoxic potential, the presence of chromosomal aberrations and nuclear abnormalities, and the frequency of micronuclei of active ingredients and commercial formulations of the herbicides atrazine (AT = 2 and 25 μg L-1) and glyphosate (GF = 65 and 160 μg L-1) isolated and in mixture (MIX = 2 + 65 and 25 + 160 μg L-1). Allium cepa root meristem cells were used as the test organism to evaluate environmentally relevant concentrations. Treatments containing the herbicides inhibited the mitotic index (ATAI2: 9.40 ± 1.36; GFAI65: 8.58 ± 1.10; MIXAI2+65: 6.99 ± 0.57; GFAI160: 9.77 ± 1.08; ATCOM25: 7.40 ± 1.38; GFCOM160: 8.26 ± 0.79) and showed chromosomal aberrations and nuclear abnormalities (ATAI2: 0.85 ± 0.17; ATCOM2: 0.97 ± 0.18; GFCOM65: 1.00 ± 0.18; MIXCOM2+65: 1.09 ± 0.25; ATAI25: 0.82 ± 0.17; GFAI160: 0.87 ± 0.23; MIXAI25+160: 0.95 ± 0.19; ATCOM25: 0.67 ± 0.19; MIXCOM25+160: 0.80 ± 0.25), indicating the cytotoxic/genotoxic potential of these herbicides. Mutagenic effects were seen in the mixture of the active ingredients of the herbicides at the lowest concentration tested (MIXAI2+65: 0.70 ± 0.57). These results indicate that the isolated herbicides and their mixture directly affect the genetic material. Therefore, we suggest reviewing the acceptable limits of these herbicides in the environment, emphasizing the importance and care required for properly handling these products to minimize environmental and human health risks.

ASSESSMENT OF THE PROGNOSTIC POTENTIAL OF EXPRESSION AND ABERRATIONS IN THE NUMBER OF DNA COPIES OF THE HOMOLOGICAL RECOMBINATION SYSTEM GENES IN PATIENTS WITH NON-SMALL CELL LUNG CANCER

Numerous studies have shown that the presence of homologous recombination deficiency (HRD) in breast tumors may be a good marker of the effectiveness of chemotherapy with DNA-damaging agents such as platinum-based and anthracycline-containing medication regimens. However, the formation of HRD due to disruptions in the BRCA1/2 genes is typical not only for breast cancer and ovarian cancer, but also for other cancer localizations, in particular for non-small cell lung cancer (NSCLC). Since the use of platinum-based drugs in patients with NSCLC is a standard treatment protocol, studying the expression profile of homologous recombination genes and the presence of chromosomal aberrations therein will allow us to fully study HRD in these patients and identify new prognostic markers.

Impact of the type of ductus venosus agenesis and the presence of associated anomalies on prognosis

Objective: The Ductus Venosus (DV) connects the umbilical vein to the inferior vena cava. With a portocaval pressure gradient, the well-oxygenated blood in the ductus venosus accelerates towards the left sidewall of the inferior vena cava, directing the blood preferentially towards cephalic and coronary circulation through the foramen ovale (1). DV serves as a shunt, expanding to protect the heart and brain in hypoxic conditions. Ductus Venosus Agenesis (DVA) is a rare congenital abnormality with a prevalence of 0.03-0.07%. The type of DVA, along with any additional anatomical or chromosomal anomalies in fetuses with DVA, significantly affects the postnatal prognosis. Some fetuses with DVA develop normally, while others may experience growth retardation, heart defects, or other complications. In this study, we aimed to evaluate the frequency of associated anomalies in DVA cases, examine the impact of each type of DVA (intrahepatic and extrahepatic venous drainage) on prognosis, and contribute to the literature on this rare disease. Materials and Methods: We conducted a retrospective study of all cases diagnosed prenatally with DVA at a tertiary center between 2016-2019. Our study reviewed obstetric data, associated anomalies, other systemic anomalies, type of DVA, chromosomal or genetic anomalies, and perinatal and postnatal outcomes. Postnatal infants were followed up to the 6th month. Results: We identified 16 cases with ductus venosus agenesis. The type of DVA (intrahepatic-extrahepatic shunt), presence of chromosomal anomalies, accompanying ultrasonographic findings, and perinatal outcomes were recorded. Generally, in 7 out of the 16 cases, the umbilical vein drained into the portal system (44% - intrahepatic), and in 9 cases, it drained into the systemic venous system. Conclusion: DVA is a rare congenital abnormality with potentially significant implications for affected fetuses and infants. Early diagnosis, careful monitoring, and appropriate management strategies are crucial to optimize outcomes for these patients. There's a need for future research to better understand the underlying etiology and pathophysiology of DVA and to develop more effective treatment options for affected individuals.

Neighborhood social deprivation and healthcare utilization, disability, and comorbidities among young adults with congenital heart defects: Congenital heart survey to recognize outcomes, needs, and well-being 2016-2019.

Research on the association between neighborhood social deprivation and health among adults with congenital heart defects (CHD) is sparse. We evaluated the associations between neighborhood social deprivation and health care utilization, disability, and comorbidities using the population-based 2016-2019 Congenital Heart Survey To RecognizeOutcomes, Needs, and well-beinG (CH STRONG) of young adults. Participants were identified from active birth defect surveillance systems in three U.S. sites and born with CHD between 1980 and 1997. We linked census tract-level 2017 American Community Survey information on median household income, percent of ≥25-year-old with greater than a high school degree, percent of ≥16-year-olds who are unemployed, and percent of families with children <18 years old living in poverty to survey data and used these variables to calculate a summary neighborhood social deprivation z-score, divided into tertiles. Adjusted prevalence ratios (aPR) and 95% confidence intervals (CI) derived from a log-linear regression model with a Poisson distribution estimated the association between tertile of neighborhood social deprivation and healthcare utilization in previous year (no encounters, 1 and ≥2 emergency room [ER] visits, and hospital admission), ≥1 disability, and ≥1 comorbidities. We accounted for age, place of birth, sex at birth, presence of chromosomal anomalies, and CHD severity in all models, and, additionally educational attainment and work status in all models except disability. Of the 1435 adults with CHD, 43.8% were 19-24 years old, 54.4% were female, 69.8% were non-Hispanic White, and 33.7% had a severe CHD. Compared to the least deprived tertile, respondents in the most deprived tertile were more likely to have no healthcare visit (aPR: 1.5 [95% CI: 1.1, 2.1]), ≥2 ER visits (1.6 [1.1, 2.3]), or hospitalization (1.6 [1.1, 2.3]) in the previous 12 months, a disability (1.2 [1.0, 1.5]), and ≥1 cardiac comorbidities (1.8 [1.2, 2.7]). Neighborhood social deprivation may be a useful metric to identify patients needing additional resources and referrals.

Integrative analysis in toxicological assessment of the insecticide Malathion in Allium cepa L. system.

For many centuries human populations have been suffering and trying to fight with disease-bearing mosquitoes. Emerging and reemerging diseases such as Dengue, Zika, and Chikungunya affect billions of people around the world and recently has been appealing to control with chemical pesticides. Malathion (MT) is one of the main pesticides used against mosquitoes, the vectors of these diseases. This study aimed to assess cytotoxicity and mutagenicity of the malathion for the bioindicator Allium cepa L. using a multivariate and integrative approach. Moreover, an appendix table was compiled with all available literature of insecticides assessed by the Allium cepa system to support our discussion. Exposures during 48h to 0.5 mg mL-1 and 1.0 mg mL-1 MT were compared to the negative control (distilled water) and positive control (MMS solution at 10 mg L-1). The presence of chromosomal aberrations, micronuclei frequency, and mitotic index abnormalities was evaluated. Anaphase bridges were the alterations with higher incidence and presented a significantly elevated rate in the concentration of 0.5 mg mL-1, including when compared to the positive control. The integrative discriminant analysis summarizes that MT in assessed concentrations presented effects like the positive control, corroborating its potential of toxicity to DNA. Therefore, it is concluded that MT in its pure composition and in realistic concentrations used, has genotoxic potential in the biological assessment of A. cepa cells. The multivariate integrative analysis was fundamental to show a whole response of all data, providing a global view of the effect of MT on DNA.

Abstract 15015: Long Term Outcomes After Interrupted Aortic Arch Repair: A Study From the Pediatric Cardiac Care Consortium

Introduction: Interrupted aortic arch (IAA) is a congenital heart disease that can be successfully repaired. Children are at risk of multiple procedures and residual abnormalities. We used the Pediatric Cardiac Care Consortium (PCCC) to describe post-repair survival of patients with IAA. Methods: We queried the PCCC for patients receiving IAA repair 1982-2003. Death was ascertained from the PCCC and US National Death Index (NDI) to December 2019. Kaplan Meier (KM) plots and multivariable analysis assessed overall long-term survival and baseline characteristics associated with increased hazard of death post-repair. Results: We identified 380 patients (male 200; female 180) with IAA repair (excluding truncus arteriosus). Most had end-to-end anastomosis (n=234, 83.6%), 87 (31.1%) by interposition graft, and 47 (16.78%) by subclavian or carotid flap. There was no data for 11 patients. A total of 280 survived to discharge. Over a median of 22.9 years (IQR 19.78-27.52 years), 39 died. The 25-year survival post-discharge after repair was 86% (Figure 1). Type B2 IAA (aberrant right subclavian artery) was associated with increased death (aHR=1.814; 95% CI=0.891-3.694) versus non-type B IAA and cases with normal subclavians (A1+B1)) after adjusting for era, sex, presence of chromosomal anomalies, and type of surgery. Interposition graft was associated with increased hazard versus end-to end anastomosis (aHR=1.942; 95% CI=0.946-3.988) or vascular flaps (aHR=1.144; 95% CI=0.456-2.870). Other risk factors were female sex and chromosomal anomalies (DiGeorge syndrome primarily) (aHR = 1.948; 95% CI=0.946-4.011 and aHR=1.090; 95% CI=0.429-2.770). Conclusions: Patients with repaired IAA have decreased long-term survival. Female sex, chromosomal anomalies, type B IAA, aberrant right subclavian artery, and interposition graft were risk factors for poor long-term outcomes. Additional analysis of risk factors for long-term outcomes and causes of death is underway.

Evaluation of prenatal central nervous system anomalies: obstetric management, fetal outcomes and chromosome abnormalities

ObjectiveTo study the outcomes of fetuses who were diagnosed with central nervous system (CNS) anomalies during prenatal period and to describe the obstetric management of those pregnancies.MethodsIn this retrospective study, fetuses who were detected to have central nervous system anomalies by prenatal ultrasound from January 2010 to December 2019 were recruited. Data regarding prenatal diagnosis and obstetric outcomes were retrieved from maternal and paediatric records. The prognosis of fetuses who were born alive was classified based on their neurodevelopmental outcome within two years of life.ResultsThere were a total of 365 fetuses with CNS anomalies within the 10-year study period, with a mean gestational age of 24.65±7.37 weeks at diagnosis. Ventriculomegaly (23.36%) was the commonest CNS anomalies seen. 198 (54.20%) of these fetuses had associated extra-CNS anomalies, with cardiovascular being the most common system involved. Fetal karyotyping was performed in 111 pregnancies, with chromosomal aberrations detected in 53 (49.07%) cases and culture failure in 3 cases. Majority of the chromosomal abnormalities were Edward syndrome (trisomy 18) and Patau syndrome (trisomy 13). Fetuses with congenital CNS anomalies and abnormal chromosomal karyotyping were more likely to be diagnosed earlier by prenatal ultrasound and tend to have poorer obstetric and neurocognitive prognosis. Prenatally, 86 (23.56%) of the cases were lost to follow up and likely to deliver elsewhere. Among the 279 cases whom their pregnancy outcomes were available, 139 (49.82%) pregnancies resulted in live births, 105 (37.63%) pregnancies were electively terminated, while the remaining 35 (12.54%) pregnancies ended in spontaneous loss. The decision of termination of pregnancy largely depends on mean diagnostic gestational age, presence of chromosomal aberrations and abnormal amniotic fluid volume in those fetuses. Two years after delivery, only 75 (53.96%) children out of 139 live births were still alive, 43 (30.93%) died and 21 (15.11%) cases were lost to follow-up. 32 (23.02%) children with prenatally diagnosed CNS anomalies had normal neurodevelopmental outcome. The presence of multiple CNS anomalies and involvement of extra-CNS anomalies indicated a poorer neurodevelopmental prognosis.ConclusionLess than 50% of fetuses with prenatally diagnosed CNS anomalies resulted in live births. Even if they survive till delivery, 36.45% of them passed away within 2 years and 62.79% of children who survived till 2 years old had neurodevelopmental disability.

Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss

Spontaneous abortion occurs in 8–20% of recognized pregnancies and usually takes place in the first trimester (7–11 weeks). There are many causes of pregnancy loss, but the most important (about 75%) is the presence of chromosomal aberrations. We present the results of oligonucleotide array application in a cohort of 62 miscarriage cases. The inclusion criteria for the study were the loss after 8th week of pregnancy and the appearance of recurrent miscarriages. DNA was extracted from trophoblast or fetal skin fibroblasts. In the 62 tested materials from recurrent miscarriages, the detection rate was 56.5% (35/62). The most commonly found were aneuploidies (65%) (chromosomal trisomy 14, 16, 18, 21, and 22), Turner syndrome, and triploidy (17.1%). Other chromosomal abnormalities included pathogenic and likely pathogenic structural aberrations: 1) pathogenic: deletion 7p22.3p12.3 and duplication 9p24.3p13.2 inherited from the normal father, deletion 3q13.31q22.2 and deletion 3q22.3q23 of unknown inheritance and duplication of 17p12 inherited from father with foot malformation; 2) likely pathogenic variants: deletion 17p13.1 inherited from normal mother, deletion 5q14.3 of unknown inheritance and de novo deletion 1q21.1q21.2. Among these aberrations, six CNVs (copy number variants) were responsible for the miscarriage: deletion 7p22.3p12.3 and duplication 9p24.3p13.2, deletion 3q13.31q22.2 and deletion 3q22.3q23, and deletion 17p13.1 and deletion 1q21.1q21.2. Other two findings were classified as incidental findings (deletion 5q14.3 and 17p12 duplication). Our research shows that 17% of the aberrations (6/35 abnormal results) that cannot be identified by the routine kariotype analysis are structural aberrations containing genes important for fetal development, the mutations of which may cause spontaneous abortion.

Non-invasive prenatal screening: experience in the Republic of Tyva

Diagnosis of congenital developmental anomalies and chromosomal abnormalities of the intrauterine fetus in early pregnancy can reduce infant mortality rates.The purpose of research:to evaluate the first results of the non-invasive prenatal test (NIPT) in the Republic of Tyva.Materials and methods.A retrospective analysis of the reports of the Federal State Statistics Service for the Republic of Tyva, the Ministry of Health and the Tyva Perinatal Center was carried out; monitoring data of congenital developmental anomalies in the republican medical genetic center.Results.Analysis of infant mortality in the Republic of Tuva for the period from 2000 to 2019 showed that with a steady decline in indicators (29.97.3), itslevel significantly exceeds the national average. One of the leading causes of infant mortality in the republic is congenital malformations, the frequency of which among newborns in Tuva is 12.633.4. Diseases caused by chromosome abnormalities make up from 4.3% to 1.2% in the structure of congenital malformations. In recent years, the number of women who underwent fetal pathology screening in the first trimester of pregnancy has been increasing in the republic (56.262.1%). According to combined screening, the detection of major chromosomal aneuploidies (Down, Edwards andPatau syndromes) is 2.16.6%. In all cases of positive screening, NIPT was performed, which has a higher specificity and sensitivity; the presence of chromosomal aberrations in the fetus was confirmed in 98.199.5% of cases.Conclusion.The introduction of widespread use of NIPT in the republic will increase the efficiency of detecting chromosomal abnormalities, reduce the number of invasive diagnostic interventions, avoid unjustified termination of pregnancy and reduce infant mortality.

EFFECT OF PURPLE LETTUCE AQUEOUS EXTRACT IN CYTOGENETICS ACTIVITY OF LETTUCE ROOT UNDER SALT STRESS

Salinity can affect cell division and cause chromosomal abnormalities such as the formation of micronuclei, chromosome stickiness, c-mitosis and multipolar anaphases. Plants react to salt stress with morphological, biochemical, physiological, cellular and molecular adjustments. The aim of this study was to evaluate the effect of different leaf extract concentrations of purple lettuce on the cytogenetic activity of lettuce roots, cv. Regina, from seeds subjected to salt stress. Four extract concentrations of purple lettuce (0, 50, 100 and 150 g lettuce leaves L-1 water)and five concentrations of sodium chloride (0, 30, 60, 90 and 120 mM) were tested, constituting 20 treatments, with distilled water for a negative control. The analyses were of mitotic index (MI), phase index of mitosis (prophase, metaphase, anaphase and telophase) and the presence of chromosomal aberrations. Salt reduces the mitotic index and all index phases of the lettuce roots. The purple lettuce extract does not affect the mitotic index, reduces the cell index in prophase and increases the cells in telophase of lettuce roots. The purple lettuce extract and salt cause chromosomal abnormalities in lettuce root cells; however, a smaller number of mutations is found by applying 100 g L-1 extract.

Risk Factors and Prognostic Factors of Hearing Impairment in Neonatal Intensive Care Unit-Treated Infants

Background: Infants admitted to the neonatal intensive care unit (NICU) have a higher incidence of congenital hearing loss compared with the healthy newborn population. Objectives: To clarify the relationship between risk factors for hearing impairment in NICU-treated infants and deterioration of the auditory brainstem response (ABR) threshold during childhood. Method: We screened 1,071 high-risk infants admitted to the NICU for hearing impairment. One-hundred forty-eight infants exhibited an abnormal ABR threshold of ≥40 dB nHL. We analyzed the correlation of change in ABR threshold with risk factors for future hearing impairment. Results: Among infants treated in the NICU, 148 (13.8%) exhibited an ABR threshold of ≥40 dB nHL; 107 of these 148 (72.3%) showed hearing change in the process (102 showed improvement to normal hearing level, whereas 5 showed further deterioration). Our analysis showed that the factors contributing to the elevation of ABR threshold were oxygen administration and chromosomal aberrations. Conclusions: Factors related to the elevation of ABR threshold were oxygen administration and the presence of chromosomal aberrations. Awareness of risk factors that are more likely to cause hearing loss in infants may aid in follow-up treatment of these children.

Efficacy and safety properties of Lumefantrine-Trimethoprim-Copper complex in mice

Lumefantrine and trimethoprim are antimalarial and antibiotic drugs respectively. Even though, therapeutic agents have shown enhanced efficacy upon coordination to metal ion, antimalarial activity of lumefantrine-trimethoprim-copper complex drug has not been reported. This study evaluated the anti-malarial potency and safety of synthesized lumefantrine-trimethoprim-copper (LTC) complex in mice. A total of 35 albino mice were randomly divided into seven groups. Mice in groups 1 and 7 were not infected with Plasmodium berghei . Infected mice in groups 3, 4, 5, and 6 were treated with chloroquine, LTC, trimethoprim and lumefantrine respectively. All the animals were sacrificed 24 hours after completion of their doses. Percentage parasitaemia, chemo suppression attained in the group of mice infected, but treated with LTC (96.84%) or chloroquine (97.80%)was higher than those treated with lumefantrine (75.79%) or trimethoprim (76.84%) at day 8 post-inoculation, when compared with control. There was significant reduction in the activities of ALP, ALT and AST in the liver of treated mice when compared with control. Increased chromosomal aberration was observed in all treated groups when compared with control.The observed modifications in the biochemical indices and the presence of chromosomal aberrations in the organs studied, suggested a selective and functional toxicity of the drug.

First trimester cystic hygroma colli: Retrospective analysis in a tertiary center

ObjectiveThis retrospective study aims to evaluate the incidence, presence of chromosomal anomalies and outcome of fetuses diagnosed with cystic hygroma colli in the first trimester in a single tertiary center. Study designA retrospective study was performed over a ten-years period from 2007 to 2017 of all fetuses with a first-trimester diagnosis of cystic hygroma. Maternal and fetal parameters were assessed with descriptive statistics. ResultsA total of 185 singleton pregnancies were included. Chromosomal anomalies were present in 122 cases (65.9%). Sixty-three fetuses (34.1%) had a normal karyotype. Noonan syndrome was diagnosed in 6 cases using additional testing for RASopathies. In euploid fetuses, a major congenital anomaly was detected in 35 of 63 cases (56%) and if present, 91.4% had an abnormal fetal outcome compared to 32.1% if no structural anomaly was found (p < 0.01). Fetuses with a nuchal translucency thickness more than 10 mm and hydropic fetuses had a worse outcome. DiscussionAssociated structural anomalies or hydrops fetalis are significant predictors for an abnormal outcome in pregnancies with first-trimester cystic hygroma and a normal karyotype.Cytogenetic evaluation and detailed sonographic evaluation are of great importance in the determination of the prognosis of pregnancies complicated by first-trimester cystic hygroma.

ASSESSMENT OF GENOTOXIC POTENTIAL OF HYDROGEN CYANAMIDE USING CHROMOSOMAL ABERRATION AND MICRONUCLEUS ASSAYS IN RAT BONE MARROW

Despite its widespread use in agriculture, data about cyanamide-induced genotoxicity are scanty, and its genotoxic potential was considered equivocal in vitro. Hence, the current study was carried out to evaluate the in vivo genotoxic potential of hydrogen cyanamide to complement the earlier in vitro research work. Thirty adult male rats were randomly assigned into 3 equal groups. Group I rats served as a control. Animals of groups II and III received hydrogen cyanamide in a dose of 10 and 20 mg/kg body weight/day respectively. All animals were treated by oral gavage, once daily, for 28 days. As end points, chromosomal aberrations, micronucleated polychromatic erythrocytes, mitotic index and polychromatic/normochromatic cell ratio in the animals’ bone marrow cells were analyzed. Negative results were obtained regarding the presence of chromosome aberrations and micronuclei in each of the lowdose and high-dose cyanamide-treated rats compared to the controls. Also, cyanamide treatment did not reduce the mitotic index or polychromatic/normochromatic cell ratio in the exposed animals. This study found that hydrogen cyanamide exposure had no genotoxic potential in rat bone marrow cells in the doses used and under the conditions of the performed assays.

Chromosome aberrations [dup(1q)] in endometrial cancer: Gene analysis of 54 surgical specimens in Turkey

ObjectiveWe aimed to evaluate the frequency of chromosomal aberrations and mutations in the k-ras or Her-2/neu genes in surgical specimens of endometrial carcinoma and their association with clinicopathological findings. Materials and methodsFifty-four patients who were treated for endometrial cancer between April 2010 and May 2011 at the Kocaeli University Obstetrics and Gynecology Department, Kocaeli, Turkey were enrolled in a prospective study. Clinical and histopathological findings were recorded. Genetic analysis, which included the detection of chromosomal deletions and duplications, as well as k-ras and Her-2/neu mutations, was performed on endometrial samples from surgical specimens. ResultsIn 70% of cases, tumor size was >2 cm or covered the entire uterine cavity, affecting mostly corpus (76%) and invading less than half of the myometrium (80%). Forty-six cases (86%) had endometrioid-type carcinoma, and early stage (Stage I, 65%) and higher grade (Grade II–III, 66%) tumors were predominant. Lymph node and lymphovascular involvement was positive in 11% and 28% of the patients, respectively. Chromosomal aberrations (deletion or duplication) and Her-2/neu and k-ras mutations were encountered in 44%, 15%, and 13% of surgical specimens, respectively. The most common chromosomal aberration was dup(1q) (n = 16). Oncogenic mutations in Her-2/neu or k-ras had no association with the severity of endometrial cancer, but the presence of chromosomal aberrations, as a whole or dup(1q) alone, were associated with higher tumor size, deeper myometrial invasion, advanced stage or grade, lymphovascular invasion, and lymph node involvement (p < 0.05 for all). ConclusionChromosomal aberrations, particularly dup(1q), are related to advanced disease in endometrial cancer. Genetic analysis of cancer tissues may provide important insights in determining disease prognosis.

Natural history of prenatal isolated muscular ventricular septal defects.

To evaluate the natural history of isolated muscular ventricular septal (m-VSD) defects during gestation and up to 1 year postnatally, as well as the association with chromosomal anomalies. Between August 2007 and July 2012, 76 fetuses with isolated m-VSDs represented the study population. The following variables were evaluated: site and size of the m-VSDs, presence of chromosomal anomalies, pregnancy outcome, and spontaneous closure rate from diagnosis up to 1 year postnatally. Of the 76 cases with m-VSD, 1 fetus died after birth and 31 cases were lost to follow-up after birth. Thus, a total of 44 fetuses reached their first year of postnatal life, and these cases were available for analysis. Three (6.8%) of 44 defects closed spontaneously in utero, 33 (75%) closed within 1 year, and 8 (18.2%) remained patent. Overall, spontaneous closure occurred more frequently in the apical defects, but no significant difference was found for spontaneous closure between the mid-muscular and apical defects (p>0.05). Also, 83.8% (36 of 44) of defects ≤3 mm closed during gestation or the first year of life. We infer that m-VSDs have a high spontaneous closure rate during the first year of life. Also, small m-VSDs frequently close spontaneously.

MFISH analysis of chromosome aberrations in workers occupationally exposed to mixed radiation

We performed a study on the presence of chromosome aberrations in a cohort of plutonium workers of the Mayak production association (PA) with a mean age of 73.3 ± 7.2 years to see whether by multi-color fluorescence in situ hybridization (mFISH) translocation analysis can discriminate individuals who underwent occupational exposure with internal and/or external exposure to ionizing radiation 40 years ago. All Mayak PA workers were occupationally exposed to chronic internal alpha-radiation due to incorporated plutonium-239 and/or to external gamma-rays. First, we obtained the translocation yield in control individuals by mFISH to chromosome spreads of age-matched individuals and obtained background values that are similar to previously published values of an international study (Sigurdson et al. in Mutat Res 652:112-121, 2008). Workers who had absorbed a total dose of >0.5 Gy external gamma-rays to the red bone marrow (RBM) displayed a significantly higher frequency of stable chromosome aberrations relative to a group of workers exposed to <0.5 Gy gamma-rays total absorbed RBM dose. Thus, the translocation frequency may be considered to be a biological marker of external radiation exposure even years after the exposure. In a group of workers who were internally exposed and had incorporated plutonium-239 at a body burden >1.48 kBq, mFISH revealed a considerable number of cells with complex chromosomal rearrangements. Linear associations were observed for translocation yield with the absorbed RBM dose from external gamma-rays as well as for complex chromosomal rearrangements with the plutonium-239 body burden.

The Glycome of Normal and Malignant Plasma Cells

The glycome, i.e. the cellular repertoire of glycan structures, contributes to important functions such as adhesion and intercellular communication. Enzymes regulating cellular glycosylation processes are related to the pathogenesis of cancer including multiple myeloma. Here we analyze the transcriptional differences in the glycome of normal (n = 10) and two cohorts of 332 and 345 malignant plasma-cell samples, association with known multiple myeloma subentities as defined by presence of chromosomal aberrations, potential therapeutic targets, and its prognostic impact. We found i) malignant vs. normal plasma cells to show a characteristic glycome-signature. They can ii) be delineated by a lasso-based predictor from normal plasma cells based on this signature. iii) Cytogenetic aberrations lead to distinct glycan-gene expression patterns for t(11;14), t(4;14), hyperdiploidy, 1q21-gain and deletion of 13q14. iv) A 38-gene glycome-signature significantly delineates patients with adverse survival in two independent cohorts of 545 patients treated with high-dose melphalan and autologous stem cell transplantation. v) As single gene, expression of the phosphatidyl-inositol-glycan protein M as part of the targetable glycosyl-phosphatidyl-inositol-anchor-biosynthesis pathway is associated with adverse survival. The prognostically relevant glycome deviation in malignant cells invites novel strategies of therapy for multiple myeloma.

&lt;b&gt;Cytotoxicity of erythrosine (E-127), brilliant blue (E-133) and red 40 (E-129) food dyes in a plant test system&lt;/b&gt; - doi: 10.4025/actascibiolsci.v35i4.18419

The objective of this work was to evaluate the cytotoxic effect of the food dyes erythrosine, brilliant blue and red 40 on the cell cycle of Allium cepa L. Each dye was evaluated at doses of 0.4 and 4.0 ml, at exposure times of 24 and 48 hours, in onion root tip cells. Cells and the presence of chromosomal aberrations were analyzed throughout the whole cell cycle, totaling 5,000 cells for each group of bulbs. The mitotic index was calculated and the statistical analysis was conducted through the Chi-square test (p < 0.05). From the obtained results, it was verified that the food additives erythrosine and brilliant blue were not cytotoxic to the cells of the test system. However, the red 40 dye, at the two evaluated doses and the two exposure times used in this bioassay have promoted a significant reduction in cell division and induced the emergence of anaphasic and telophasic bridge aberrations and micronucleated cells. Additional cytotoxicity studies should be conducted to add information to these and other previously obtained results in order to evaluate, with property, the action of these three dyes on a cellular level.