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Biomedical subjects

E Martini

Publications and source records attributed to E Martini.

At least 19 recordsLinked to original sources
PubMed2007

FISH analysis of 15 chromosomes in human day 4 and 5 preimplantation embryos: the added value of extended aneuploidy detection.

OBJECTIVE: Screening for an increased number of chromosomes may improve the detection of abnormal embryos and thus contribute to the capability of preimplantation genetic screening (PGS) to detect the embryo(s) for transfer in IVF with the best chance for a healthy child. Good-quality day 4 and 5 embryos were analyzed after cryopreservation for the nine chromosomes mostly recommended for screening (13, 14, 15, 16, 18, 21, 22, X and Y), next to six additional chromosomes which are less well studied in this context (1, 2, 7, 6, 10 and 17). METHOD: The copy numbers of 15 chromosomes were investigated by fluorescence in situ hybridization (FISH) in three consecutive rounds. The proportion of aneuploid and mosaic embryos was determined and compared in retrospect to results in case only the recommended probe set had been analyzed. RESULTS: A total of 52 embryos from 29 infertile women were analyzed. Screening the embryos for six additional chromosomes increased the proportion of abnormal embryos from 67 to 81% (P = 0.03), owing to an increase in mosaic embryos. CONCLUSION: All but one of the meiotic aneuploidies found in this study would have been detected by the probe set most frequently used in PGS clinics. However, aneuploid cell lines originating from mitotic errors could be detected for almost all chromosomes, so screening of six additional chromosomes mainly increased the proportion of mosaic embryos. The added value of screening for six additional chromosomes in PGS for clinical practice will remain undetermined as long as the fate of mosaic embryos after transfer is unclear.

Aneuploidy↗
PubMed2006

Pharmacological characterization of DM232 (unifiram) and DM235 (sunifiram), new potent cognition enhancers.

DM232 (unifiram) and DM235 (sunifiram) are potent cognition-enhancers, which are four order of magnitude more potent than piracetam. These compounds, although not showing affinity in binding studies for the most important central receptors or channels, are able to prevent amnesia induced by modulation of several neurotransmission systems. These compounds are able to increase the release of acetylcholine from rat cerebral cortex, and, as far as unifiram is concerned, to increase the amplitude of fEPSP in rat hippocampal slices. In vitro experiments, performed on hippocampal slices, also supported the hypothesis of a role of the AMPA receptors for the cognition-enhancing properties of unifiram and sunifiram.

Animals↗
PubMed2005

Tyrosinase inhibition organic phase biosensor for triazinic and benzotriazinic pesticide analysis (part two).

Several triazine pesticides, such as atrazine, are much more soluble in several organic solvents, such as chloroform, than in water. Our recent research was aimed at analyzing this class of pesticides using tyrosinase OPEE (organic phase enzyme electrodes), exploiting their inhibiting action on the tyrosinase enzyme when operating in water-saturated chloroform medium. In this work we studied the response of a tyrosinase inhibition enzyme sensor to several triazinic (simazine, propazine, terbuthylazine) and benzotriazinic (azinphos-ethyl and azinphos-methyl) pesticides (LOD=0.5x10(-9) mol l(-1)). Recovery trials were also performed in vegetal matrixes (corn, barley, lentils). Lastly, the effect of the solvent (chloroform or water) on the inhibition process was investigated via Hill's equation and the diffusion of analyte from the solvent to the enzyme membrane.

Biosensing Techniques↗
PubMed2005

Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF.

BACKGROUND: In order to assess the frequency of aneuploidy and mosaicism in embryos obtained from IVF patients aged <38 years, preimplantation genetic screening (PGS) was performed after biopsy of two blastomeres. Furthermore, the reliability of this diagnosis was assessed by performing reanalysis of the embryo on day 5. METHOD: The copy numbers of 10 chromosomes (1, 7, 13, 15, 16, 18, 21, 22, X and Y) were investigated by fluorescence in situ hybridization (FISH) analysis. Embryos that were found to be abnormal or of insufficient morphological quality were cultured until day 5 and reanalysed. Results obtained were compared to the day 3 blastomere analysis. RESULTS: After analysis of 196 embryos (one cell in 38% and two cells in 62%), only 36% of the embryos were found to be normal on day 3. After analysis of two blastomeres, 50% showed chromosomal mosaicism. Comparison of the FISH results from day 3 blastomeres and day 5 embryos yielded an overall cytogenetic confirmation rate of 54%. CONCLUSIONS: The rates of mosaicism and aneuploidy in these embryos from young IVF patients are similar to those published for older women. We found the best confirmation rate after a diagnosis based on two cells, where both blastomeres showed the same chromosomal abnormality. In contrast, after a mosaic diagnosis the confirmation rate was low. The present study provides the first detailed reanalysis data of embryos analysed by PGS and clearly demonstrates the impact of mosaicism on the reliability of the PGS diagnosis.

Adult↗
PubMed2004

Screening for aneuploidies of ten different chromosomes in two rounds of FISH: a short and reliable protocol.

OBJECTIVE: To develop a DNA labelling protocol for the simultaneous detection of five different fluorescent chromosomal DNA probes within one round of hybridisation. In combination with a commercial five-colour probemix for the second round of hybridisation, this results in a fast and reliable Fluorescence in situ Hybridization (FISH) protocol, enabling the detection of 10 chromosomes within a working day. This is especially of use for Preimplantation Genetic Screening (PGS), when only single interphase nuclei are available for analysis and when time is restricted. METHOD: DNA probes were labelled with four different fluorochromes (Pacific Blue, Alexa Fluor 350, Alexa Fluor 594 and Alexa Fluor 488) using an ARES labelling kit, based on a two-step method. Aminoallyl-dUTPs were incorporated by nick translation, followed by chemical linking of the amino-modified fluorescent dye. The fifth colour was achieved by using two fluorescent dyes in the chemical reaction, resulting in dual labelling of the DNA probe and a fluorescence detectable with a specific filter set. These five probes were simultaneously hybridised in a first FISH round, followed by a second hybridisation with a commercial five-colour probemix, thus allowing the detection of chromosomes 1, 7, 13, 15, 16, 18, 21, 22, X and Y. The fixation and pre-treatment procedures of the blastomere nuclei were further optimised. RESULTS: Using this labelling and FISH protocol, probe hybridisation efficiency, when tested on lymphocyte nuclei, is 95 to 99%. With the fixation protocol, blastomere nuclei maintain good morphology and show condensed and clear signals even after the second round of hybridisation. CONCLUSION: This labelling method in combination with specific epifluorescence filters, enables an independent detection of five different chromosomes in one round of FISH. The whole process of biopsy, fixation and two rounds of hybridisation with the analysis of ten chromosomes can be completed within a day.

Aneuploidy↗
PubMed2004

Fluorescence in situ hybridization analysis of two blastomeres from day 3 frozen-thawed embryos followed by analysis of the remaining embryo on day 5.

BACKGROUND: Chromosomal mosaicism in human embryos may give rise to false positive or false negative results in preimplantation genetic diagnosis for aneuploidy screening (PGD-AS). Therefore, we have investigated whether the results obtained from a 2-cell biopsy of frozen-thawed embryos and fluorescence in situ hybridization (FISH) analysis are representative for the chromosome constitution of the remaining embryo on day 5. METHODS: Cryopreserved day 3 embryos were thawed and from surviving embryos two blastomeres were biopsied. FISH analysis was performed for chromosomes 1, 7, 13, 15, 16, 18, 21, 22, X and Y. After biopsy, the embryos were cultured until day 5 and further analysed using the same probe panels. RESULTS: In all, 17 embryos were available with a diagnosis based on two blastomeres on day 3 and confirmatory studies on day 5. In 10 of these 17 cases the initial diagnosis could be confirmed. However, in only six cases cytogenetic results were concordant. Besides the 10 cases with a 'correct' diagnosis, there were six false positive results and one false negative, all involving mosaicism. CONCLUSIONS: Investigating the chromosomal constitution of two blastomere nuclei offers a good opportunity to study the incidence of chromosomal mosaicism in early embryo development. The confirmation rate of the results obtained on day 3 depends on the interpretation and is higher when considered from a clinical than from a cytogenetic point of view.

Aneuploidy↗
PubMed2003

Treatment of pseudomyxoma peritonei with two times--cytoreduction and hypertermic antiblastic peritoneal perfusion (HAPP).

Pseudomyxoma peritonei is a rare neoplasia with a low grade of clinical malignity in which neoplastic masses product large amount of mucinous material. Its treatment advocates an aggressive cytoreduction of all visceral and peritoneal lesions and Hyperthermic Antiblastic Peritoneal Perfusion (HAPP). In three cases we programmed a two stage surgical approach for the massive amount of peritoneal implants. Two times we achieved our aim, while one time, the wide progression of the disease during the two surgical procedures made useless our efforts to have a complete cytoreduction and the following HAPP. This last patient refused systemic chemotherapy between the two surgeries and we think that this should be one of the reasons of the failure.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2001

Clearance of hepatitis B surface antigen in chronic carriers of hepatitis delta antibodies.

BACKGROUND/AIMS: We evaluated the rate of seroclearance of the hepatitis B surface antigen (HBsAg) and its clinical significance in patients with chronic hepatitis delta virus (HDV). METHODS: Antibody to HDV was tested in HBsAg-positive subjects admitted to our Hospital from 1991 to 1995. In 1997, a biochemical and virologic study was performed in the surviving anti-HD-positive patients who had not undergone transplantation. As a control, a cohort of 106 HBsAg-positive, anti-HD-negative patients was studied. RESULTS: One hundred and forty-one subjects were originally positive for anti-HD. After 4 years of follow-up, six of the 60 patients who underwent re-evaluation (10%) had cleared the HBsAg: three of the six patients had minimal changes at the initial liver histology and normal ALT, whereas in the remaining three patients with chronic active hepatitis ALT normalized during the observation. Anti-HD persisted in five of the six patients. Only one patient had raised anti-HBs. In contrast, three of 106 HBsAg carriers without HDV infection (2.8%) cleared the HBsAg within the same time and seroconverted to anti-HBs (p=0.002). CONCLUSION: HBsAg clearance is increased over the years in HDV patients compared to ordinary HBsAg carriers, and is often associated with improvement of HDV disease without seroconversion to anti-HBs.

Chronic Disease↗
PubMed2001

Cardiovascular function in pregnancy: effects of posture.

OBJECTIVE: To evaluate the cardiovascular response to active postural changes in pregnancy. DESIGN: Prospective study. SETTING: Outpatient Clinic, Fetal Maternity Unit. PARTICIPANTS: Sixteen healthy women referred prior to pregnancy. METHODS: Heart rate, arterial pressure, echocardiographic end-diastolic and end-systolic left ventricular volumes (Teichholz' s formula) were measured in the three months before pregnancy, at the end of the first and second trimester, at mid third trimester, and six months after delivery in the supine and standing position, in thirteen women (mean age 33, range 25-38 years). RESULTS: Cardiac output (supine position) significantly increased (28%): it reached its maximum at the second trimester, remained steadily elevated in the mid third trimester, and returned to baseline after delivery. Cardiac output increased during pregnancy also in the active orthostatic position, the percentage increase being greater (70%) since the standing pre-conception value was lower. The postural stress induced similar changes in heart rate, arterial pressure and left ventricular ejection fraction before, during and after pregnancy. However, the reduction in cardiac output associated with early standing attenuated significantly at the second trimester and it was absent at mid third trimester (F = 3.13, P = 0.021). This was due to the interplay between the significantly lesser increase in systemic vascular resistance, occurring since the first trimester, and the significantly lesser decrease in left ventricular end-diastolic volume which was observed in the mid third trimester. CONCLUSION: These data indicate that the elevated cardiac output is adequately maintained in pregnancy during the postural challenge, due to optimisation of the responses of preload and afterload.

Adult↗
PubMed2001

Estimating the prevalence of anaemia: a comparison of three methods.

OBJECTIVE: To determine the most effective method for analysing haemoglobin concentrations in large surveys in remote areas, and to compare two methods (indirect cyanmethaemoglobin and HemoCue) with the conventional method (direct cyanmethaemoglobin). METHODS: Samples of venous and capillary blood from 121 mothers in Indonesia were compared using all three methods. FINDINGS: When the indirect cyanmethaemoglobin method was used the prevalence of anaemia was 31-38%. When the direct cyanmethaemoglobin or HemoCue method was used the prevalence was 14-18%. Indirect measurement of cyanmethaemoglobin had the highest coefficient of variation and the largest standard deviation of the difference between the first and second assessment of the same blood sample (10-12 g/l indirect measurement vs 4 g/l direct measurement). In comparison with direct cyanmethaemoglobin measurement of venous blood, HemoCue had the highest sensitivity (82.4%) and specificity (94.2%) when used for venous blood. CONCLUSIONS: Where field conditions and local resources allow it, haemoglobin concentration should be assessed with the direct cyanmethaemoglobin method, the gold standard. However, the HemoCue method can be used for surveys involving different laboratories or which are conducted in relatively remote areas. In very hot and humid climates, HemoCue microcuvettes should be discarded if not used within a few days of opening the container containing the cuvettes.

Anemia↗
PubMed2000

FISH analysis of six chromosomes in unfertilized human oocytes after polar body removal.

PURPOSE: To develop an improved technique for estimating chromosomal abnormalities in human oocytes by fluorescence in situ hybridization (FISH) and to correlate the position of single chromatids with the chromosomal status of the oocytes. METHODS: Oocytes that were at metaphase II about 17-20 hr after insemination or intracytoplasmic sperm injection (ICSI) were treated with pronase to remove the zona pellucida and polar body (PB) and then spread on slides using HCl and Tween 20. Two rounds of FISH were performed using direct-labeled probes: chromosomes 1, 13, 21 (round 1); chromosomes X, 7, 18 (round 2). RESULTS: Of the 63 oocytes from 18 patients (mean age, 32 years), 48 (76%) had one DNA complement as expected, 9 (14%) had 2 DNA complements, 3 (5%) gave incomplete FISH signals, and 3 (5%) were not analyzable. Of the 48 oocytes with one set of DNA, 48% were haploid, 44% were aneuploid for one or more chromosomes, and 8% were polyploid. We also found an increased frequency of predivision of chromatid bivalents in aneuploid oocytes, especially for chromosome 21. CONCLUSIONS: This technique enables simultaneous assessment of six chromosomes in human oocytes, and therefore can be useful for accurately determining the incidence and causes of genetic imbalances in human oocytes and apparently low fertilization rates.

Adult↗
PubMed2000

The potential of various foods to serve as a carrier for micronutrient fortification, data from remote areas in Indonesia.

OBJECTIVE: To estimate the potential of various industrially produced foods, to serve as a carrier for micronutrient fortification based on the frequency of their consumption in different socio-economic strata; to determine the role of fortified instant noodles as a source of micronutrients; to assess the contribution of plant foods, animal foods and fortified foods to vitamin A intake. SETTING: A survey was conducted in rural South Sulawesi and urban South Kalimantan between November 1996 and January 1997. SUBJECTS: Households (1500 in South Sulawesi; 2112 in South Kalimantan) were selected randomly by multi-stage cluster sampling. From each household, data were collected from the mother and her youngest child (0-5 y). DATA COLLECTION: Mothers were interviewed on various topics, including socio-economic status, food consumption, receipt of high-dose vitamin A capsules, health and nutritional status. RESULTS: Monosodium glutamate and salt were consumed daily in almost all households in both areas, and consumption was not associated with socio-economic status. Instant noodles were consumed in nearly all households in both areas, but consumption of fortified noodles was related to socio-economic status; it was highest among households of government employees and private investors, and lowest among farmers and share-croppers. Vegetables were the most important source of vitamin A in rural South Sulawesi, while foods of animal origin were the most important source in urban South Kalimantan. CONCLUSIONS: The results support double or triple fortification of salt and/or monosodium glutamate with iodine, vitamin A and/or iron. Efforts to overcome associated technical and logistical difficulties are urgently needed. SPONSORSHIP: Opportunities for Micronutrient Interventions (OMNI); United States Agency for International Development (USAID). European Journal of Clinical Nutrition (2000) 54, 822-827

Adult↗
PubMed2000

Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.3;q24.3) in siblings.

Preimplantation genetic diagnosis (PGD) was performed in two couples to avoid chromosomally unbalanced progeny in a family in which a brother and a sister carry an identical maternally inherited balanced translocation t(3;11)(q27.3;q24.3). Embryos were biopsied 3 days after fertilization and blastomeres were analysed by fluorescent in-situ hybridization (FISH). Embryos were classified as unbalanced or normal/balanced. In the first case, the male carrier and his wife underwent one IVF/PGD treatment cycle. In all, 18 embryos were analysed. Of those, 15 revealed an unbalanced karyotype. For one embryo, results were not conclusive, from one embryo results were contradictory and one embryo was classified as normal/balanced and subsequently transferred. A singleton pregnancy was achieved. The PGD analysis was confirmed at 16 weeks gestation by amniocentesis. At term, a healthy girl with a balanced karyotype was born. Pregnancy and delivery were without complications. In the second case, the female carrier and her husband underwent two IVF/PGD treatment cycles. During the first cycle, three embryos were analysed. One embryo revealed an unbalanced karyotype and two embryos were designated a normal/balanced karyotype and transferred but no pregnancy was achieved. During the second PGD cycle three embryos were analysed. Of those, none appeared suitable for transfer. The couple decided not to undergo further treatment. Our results indicate that for individuals carrying a reciprocal translocation PGD is a feasible approach to obtain embryos with a normal chromosome balance and to avoid both spontaneous and induced abortion.

Abortion, Spontaneous↗
PubMed2000

Suggesting strategies improves creative visual synthesis.

An experiment assessed whether a figural or an interpretative strategy can enhance creative visual synthesis. 45 undergraduates were presented a set of simple figures and asked to imagine combining them to obtain a whole pattern corresponding to a creative product. In the figurative condition participants were instructed to combine figures in unusual ways; in the interpretative condition they were induced to look for unusual meanings embedded in the combinations; in the control condition no strategy was suggested. Results showed that certain strategies induced a more flexible visual synthesis.

Adult↗
PubMed2000

[Anesthesia with sevoflurane and orotracheal intubation for pediatric ophthalmic surgery of medium length in day hospital] .

BACKGROUND: The aim of this study was to evaluate the discharge rate of children undergoing ophthalmic surgery of medium length (69-120') in a day-hospital regime under general anesthesia with orotracheal intubation and using Sevoflurane as the only anesthetic agent. METHODS EXPERIMENTAL PROTOCOL: prospective study. SETTING: the study was carried out in the operating theatre of the Ophthalmic Clinic at Florence University. PATIENTS: 58 pediatric patients aged 2-10 years, ASA I-II, 13-34 kg. OPERATIONS: correction of strabismus, cataract, glaucoma, palpebral ptosis and intubation of lacrimal tracts. Parameters measure: Any signs of reactivity in the airways to Sevoflurane on induction or reawakening (cough, bronchospasm, laryngospasm and psychomotor agitation), hemodynamic variables (heart rate and NIBP); reawakening time (from turning off the vaporiser to extubation), discharge time from recovery room (SatO2 > or = 97% in ambient atmosphere), discharge time from hospital (stable vital signs, response to simple and complex commands). RESULTS: The mean reawakening time was 7 min, discharge time from the recovery room was 20 min, discharge time from the hospital 80% after four hours, 100% after six hours. No respiratory and/or cardiovascular complications were reported nor psychomotor agitation. CONCLUSIONS: General anesthesia with Sevoflurane and Atracurium was found to be a realistic and reliable technique in pediatric ophthalmic surgery of medium length performed in day hospital.

Ambulatory Surgical Procedures↗
PubMed1999

Who has a high vitamin A intake from plant foods, but a low serum retinol concentration? Data from women in Indonesia.

OBJECTIVE: To examine whether the relationship between vitamin A intake, from plant and animal foods, and vitamin A status is the same throughout a population. DESIGN: Analysis of cross-sectional data on vitamin A intake, vitamin A status, physiological condition and socio-economic status. SETTING: Central Java, Indonesia. SUBJECTS: Women with a child < or =24 months old (n = 600). RESULTS: Mean serum retinol concentration of women with animal vitamin A intake below or above the median (50 RE/d) was 1.28 and 1.38 micromol/L, respectively (P<0.05). For those with intake above the median the distribution curve for serum retinol concentration was shifted towards the right, to higher concentrations. Serum retinol concentration of women with plant vitamin A intake below or above the median (279 RE/d) was 1.30 and 1.36 micromol/L, respectively (P<0.05). Again, the distribution curve for serum retinol was shifted towards higher concentrations for women with an intake above the median, except for the subgroup of 25% with the lowest serum retinol concentration (<1.10 micromol/L). These women did not seem to benefit from their relatively high vegetable intake. They also had the lowest socio-economic status. CONCLUSIONS: The subgroup that was most in need of vitamin A could not obtain it from plant foods. It may well be that, because of their lower socio-economic status, their hygiene conditions were worse and therefore host-related factors that affect carotene bioavailability, such as parasitic infestation, were less favourable in this group. They depended on supplements and, if affordable, on animal foods, fruits and/or fortified products.

Adult↗
PubMed1999

Experimental study of X-ray mammography in a fluid bath: reduced radiation dose and improved detail resolution.

OBJECTIVE: To determine the effects on x-ray mammography of embedding the breast in a fluid bath. METHODS: A plexiglass phantom in the shape of a compressed breast was x-rayed in air and water with a mammography unit, and the radiation dose was measured by 20 thermoluminescence dosimeters placed in 20 representative positions on the surface of the phantom. Udders from slaughtered sheep as an animal model and phantoms were examined by mammography in identical positions surrounded by air and different fluids. The images were evaluated for detail resolution subjectively (animal model) and objectively (phantom containing quantifiable structures) by 6 and 15 blinded readers, respectively. The readers' results were analyzed and compared for visualization of the objects in air versus fluid. RESULTS: Mammographic examination in the fluid bath reduced the radiation dose and improved detail resolution in the rounded margin of the breast. Also, viewing conditions in the central region were improved as a result of the uniform optical density across the entire film area. CONCLUSIONS: Performing x-ray mammography in a fluid bath has advantages that make the technical realization of this method desirable.

Air↗