Chromosome sensitivity to bleomycin in G2 lymphocytes from Down syndrome patients

Several studies have demonstrated that lymphocytes from patients with Down syndrome (DS) exhibit an increased frequency of chromosome aberrations when they are exposed to ionizing radiation or to chemicals at the G0 or G1 phases of the cell cycle, but not at G2 when compared to normal subjects. To determine the susceptibility of DS lymphocytes at G2 phase, bleomycin, a radiomimetic agent, was used to induce DNA breaks in blood cultures from 24 Down syndrome patients. All the patients with DS showed free trisomy 21 (47,XX + 21 or 47,XY + 21). Individuals that showed an average number of chromatid breaks per cell higher than 0.8 were considered sensitive to the drug. No control child showed susceptibility to bleomycin, and among the 24 patients with DS, only one was sensitive to the drug. No significant difference was observed between the two groups, regarding chromatid break frequencies in treated G2 lymphocytes. The distribution of bleomycin-induced breaks in each group of chromosomes was similar for DS and controls. No significant difference was found in the response to bleomycin between male and female subjects. Probably, the main factor involved in chromosome sensitivity of lymphocytes from patients with DS is the phase of the cell cycle in which the cell is treated.

X̄ chart with variable sample size and sampling intervals

Recent theoretical studies have shown that the X̄ chart with variable sampling intervals (VSI) and the X̄ chart with variable sample size (VSS) are quicker than the traditional X̄ chart in detecting shifts in the process. This article considers the X̄ chart with variable sample size and sampling intervals (VSSI). It is assumed that the amount of time the process remains in control has exponential distribution. The properties of the VSSI X̄ chart are obtained using Markov chains. The VSSI X̄ chart is even quicker than the VSI or VSS X̄ charts in detecting moderate shifts in the process.

VSSI X̄ charts with sampling at fixed times

A standard X̄ chart for controlling the process mean takes samples of size n0 at specified, equally-spaced, fixed-time points. This article proposes a modification of the standard X chart that allows one to take additional samples, bigger than n0, between these fixed times. The additional samples are taken from the process when there is evidence that the process mean moved from target. Following the notation proposed by Reynolds (1996a) and Costa (1997) we shortly call the proposed X chart as VSSIFT X chart where VSSIFT means variable sample size and sampling intervals with fixed times. The X chart with the VSSIFT feature is easier to be administered than a standard VSSI X chart that is not constrained to sample at the specified fixed times. The performances of the charts in detecting process mean shifts are comparable. Copyright © 1998 by Marcel Dekker, Inc.

Joint X̄ and R Charts with Variable Sample Sizes and Sampling Intervals

Recent studies have shown that the X̄ chart with variable sampling intervals (VSI) and/or with variable sample sizes (VSS) detects process shifts faster than the traditional X̄ chart. This article extends these studies for processes that are monitored by both the X̄ and R charts. A Markov chain model is used to determine the properties of the joint X and R charts with variable sample sizes and sampling intervals (VSSI). The VSSI scheme improves the joint X̄ and R control chart performance in terms of the speed with which shifts in the process mean and/or variance are detected.

Effect of floating macrophyte cover on the water quality in fishpond

A study was conducted during 23 days in order to evaluate the impact of floating aquatic macrophyte on the water quality of a fishpond. Water samples were collected in four points, three inside the pond and one in water inlet. Drastic reduction of dissolved oxygen was observed in the pond, down to 0.87 mg/L. No significant differences (P > 0.05) were observed for total CO 2, nitrite and ammonia with respect to inlet water (P1) and inside the pond (P2, P3 e P4). Chlorophyll a displayed an inverse relationship with phosphorus. Among nitrogen compounds, ammonia presented the highest concentrations except in water inlet where nitrate was higher, 513.33 μg/l, as well as the highest conductivity values. The pH was slightly acid. The results obtained showed that the macrophyte cover promoted an adverse effect in the medium. Under control, aquatic plants might impact positively due to its capacity to reduce total phosphorus and nitrate in the water column as observed in this study.

Use of the internal standardization for difficult sampling by graphite furnace atomic absorption spectrometry

This work shows the potentiality of As as internal standard to compensate errors from sampling of sparkling drinking water samples in the determination of selenium by graphite furnace atomic absorption spectrometry. The mixture Pd(NO 3) 2/Mg(NO 3) 2 was used as chemical modifier. All samples and reference solutions were automatically spiked with 500 μg l -1 As and 0.2% (v/v) HNO 3 by the autosampler, eliminating the need for manual dilutions. For 10 μl dispensed sample into the graphite tube, a good correlation (r=0.9996) was obtained between the ratio of analyte absorbance by the internal standard absorbance and the analyte concentrations. The relative standard deviations (R.S.D.) of measurements varied from 0.05 to 2% and from 1.9 to 5% (n=12) with and without internal standardization, respectively. The limit of detection (LD) based on integrated absorbance was 3.0 μg l -1 Se. Recoveries in the 94-109% range for Se spiked samples were obtained. Internal standardization (IS) improved the repeatability of measurements and increased the lifetime of the graphite tube in ca. 15%. © 2004 Elsevier B.V. All rights reserved.

Tamoxifen down-regulates CaMKII messenger RNA levels in normal human breast tissue

Tamoxifen was proven to reduce the incidence of breast cancer by 49% in women at increased risk of the disease in the Breast Cancer Prevention Trial. In order to identify potential candidates to explain the preventive effect induced by tamoxifen on breast cancer, normal breast tissue obtained from 42 fibroadenoma patients, randomly assigned to receive placebo or tamoxifen, was analyzed by the reverse Northern blot and RT-PCR techniques. The cDNA fragments used on Northern blot membranes were generated by the Human Cancer Genome Project funded by the Ludwig Institute for Cancer Research and FAPESP (Fundação de Amparo à Pesquisa do Estado de São Paulo, Brazil). Total RNA was obtained from normal breast tissue from patients with clinical, cytological and ultrasound diagnosis of fibroadenoma. After a 50-day treatment with tamoxifen (10 or 20 mg/day) or placebo, normal breast tissue adjacent to the tumor was collected during lumpectomy with local anesthesia. One differentially expressed gene, Calcium/calmodulin-dependent protein kinase II (CaMKII), was found to be down-regulated during TAM treatment. CaMKII is an ubiquitous serine/threonine protein kinase that has been implicated in the diverse effects of hormones utilizing Ca2+ as a second messenger as well as in c-fos activation. These results indicate that the down-regulation of CaMKII induced by TAM might represent alternative or additional mechanisms of the action of this drug on cell cycle control and response to hormones in normal human breast tissue.

Arbitrarily primed polymerase chain reaction for fingerprinting the genotype identification of mutans streptococci in children with Down syndrome

This study investigated the possible intrafamilial similarity of mutans streptococcal strains in some families with a child with Down syndrome using chromosomal DNA fingerprinting. The isolates were genotyped using arbitrarily primed polymerase chain reaction with the OPA 02 and OPA 03 primers. The results showed that five children with Down syndrome harbored mutans streptococci genotypes different from those of their mothers. A matching of genotypes was observed within the control pair (mother/child without Down syndrome). After six months, new samples were collected from all participants. Analysis showed that samples from children with Down syndrome were colonized by a new strain of Streptococcus mutans that did not match the previously collected one. The results suggest the S. mutans indigenous bacteria change more than once in children with Down syndrome.

Perception-action coupling in infants with down syndrome: Effects of experience and practice

This study examined the effects of experience and practice on the coupling between visual information and trunk sway in infants with Down syndrome (DS). Five experienced and five novice sitters were exposed to a moving room, which was oscillated at 0.2 and 0.5 Hz. Infants remained in a sitting position and data were collected on the first, fourth, and seventh days. On the first day, experienced sitters were more influenced by room oscillation than were novices. On the following days, however, the influence of room oscillation decreased for experienced but increased for novice sitters. These results suggest that the relationship between sensory information and motor action in infants with DS can be changed with experience and practice.

Incidência de malformações congênitas em crianças concebidas através de injeção intracitoplasmática de espermatozóides

Purpose: to evaluate the incidence and types of major congenital malformations (MCM) in liveborn children conceived by intracytoplasmic sperm injection (ICSI). Methods: a total of 680 liveborn children resulted from 511 couples submitted to ICSI from January, 1999 to December, 2002. Data collection of the children was performed through standardized questionnaire and clinical examination. Of the 511 couples, 366 had been contacted for a sampling of 371 gestations. Of the 680 liveborn, 520 had been evaluated, 250 of them (48.1%) through questionnaire and 270 (51.9%) through questionnaire and physical examination. Two hundred and fifty children were from singleton pregnancies and 270 from multiple pregnancies. Malformations were classified according to the 10th revision of the International Statistical Classification of Diseases and Related Health. Only MCM were analyzed in this study. The incidence of MCM was compared with that of the general population obtained by the Latin American Collaborative Study of Congenital Malformations. The statistical analysis was performed by the χ 2 test (level of significance p<0.05). Results: of the 520 children, 15 presented MCM, resulting in an incidence of 2.9%. There was no difference in relation to the control group (p>0.05), which showed 2.6% incidence of MCM. The most frequent malformations were of cardiac origin (four isolated and two associated), corresponding to 40% of the total. The other types of MCM were: renal (three), neural tube (two), skull (one), cleft lip (one), genital (one), Down syndrome (associated with cardiac malformations) (two), and musculoskeletal (one). Six MCM occurred in children from singleton pregnancies and nine in children from multiple pregnancies. Conclusion: the liveborn children conceived by ICSI presented incidence of major congenital malformations (2.9%) near to the expected for the general population (2.6%). However, to establish the risks of MCM with precision it is necessary to continue the evaluation of the children conceived by ICSI.

Synthetic control charts with two-stage sampling for monitoring bivariate processes

In this article, we consider the synthetic control chart with two-stage sampling (SyTS chart) to control bivariate processes. During the first stage, one item of the sample is inspected and two correlated quality characteristics (x;y) are measured. If the Hotelling statistic T1 2 for these individual observations of (x;y) is lower than a specified value UCL 1 the sampling is interrupted. Otherwise, the sampling goes on to the second stage, where the remaining items are inspected and the Hotelling statistic T2 2 for the sample means of (x;y) is computed. When the statistic T2 2 is larger than a specified value UCL2, the sample is classified as nonconforming. According to the synthetic control chart procedure, the signal is based on the number of conforming samples between two neighbor nonconforming samples. The proposed chart detects process disturbances faster than the bivariate charts with variable sample size and it is from the practical viewpoint more convenient to administer.

Ectrópio palpebral em portador da síndrome de Down e conjuntivite alérgica: Relato de caso

This is a case report of a patient with Down's syndrome with an important mechanical ectropion and elongation of the lower lid related to chronic allergic conjunctivitis, besides cataract and keratoconus. The tarsal strip technique and ressection of redundant and thick conjunctiva was the surgical approach chosen for this case. Functional and cosmetic outcomes were considered satisfactory.

Dental age in patients with Down syndrome

The aim of this research was to evaluate dental age in 102 patients with Down Syndrome, using panoramic radiographs. A software program developed by the Discipline of Radiology, School of Dentistry of São José dos Campos, São Paulo State University (UNESP), was used. A table of mineralization chronology of permanent teeth among Brazilians conceived by Nicodemo, Moraes and Medici Filho was used within the software. Statistical analysis of the results showed that 70.91% of the males land 61.21% of the females presented advanced dental age. Only 32.09% of the males and 39.79% of the females presented delayed dental age. Regarding the differences between the dental and chronological ages, two thirds of the males and females presented dental age with differences of up to 12 months, which means that they can be considered to be within normal standards, whereas only 18.87% of the males and 10.21% of the females presented dental age outside normal standards, with differences of over 24 months. In conclusion, the majority of the patients with Down Syndrome were considered to be within the normal standards of mineralization chronology.

Skeletal age of individuals with Down syndrome

The aim of this study was to assess the skeletal age of Brazilian individuals with Down syndrome (DS) using the method of Greulich and Pyle. Forty subjects with DS between the ages of 6 and 16 years were studied and compared to a control sample of children without DS. The statistical analysis showed that at the age of 7 years the skeletal age (SA) of the individuals with DS was delayed in relation to their chronological age (CA) (SA < CA). On the other hand, at the age of 15 years, their SA was advanced in relation to their CA (SA > CA). An evaluation of the results suggests that the period of adolescent development for individuals with DS was shorter. These individuals reach the completion of bone maturation earlier compared to individuals without DS. © 2008 Special Care Dentistry Association and Wiley Periodicals, Inc.