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Biomedical subjects

G Di Stefano

Publications and source records attributed to G Di Stefano.

At least 37 records · Page 2Linked to original sources
PubMed2001

Mapping of mitochondrial metabolic competence by cytochrome oxidase and succinic dehydrogenase cytochemistry.

To map the mitochondrial capacity to provide adenosine triphosphate (ATP), the activities of cytochrome oxidase (COX) and succinic dehydrogenase (SDH) were respectively evidenced by diaminobenzidine (DAB) and copper ferrocyanide cytochemical techniques in the cerebellar cortex of adult rats. Sampling of the positive mitochondria was carried out by the disector procedure. The ratio (R) overall area of the precipitates due to COX activity within the single mitochondrion/area of the same organelle was automatically calculated to estimate enzyme activity vs mitochondrial size. The number of SDH-positive mitochondria/microm(3) of tissue (numeric density, Nv) was morphometrically calculated. Cytochemistry of key enzymes of the respiratory chain enables measurement of the actual capacity of individual mitochondria to provide ATP. This quantitative estimation allows morphofunctional mapping of the mitochondrial metabolic competence in discrete tissue and/or cellular compartments. (J Histochem Cytochem 49:1191-1192, 2001)

Animals↗
PubMed2001

Cellular distribution of GAP-43 mRNA in hippocampus and cerebellum of adult rat brain by in situ RT-PCR.

The growth-associated protein GAP-43 is a presynaptic membrane phosphoprotein that plays a key role in guiding the growth of axons and in modulating the formation of new synapses. To identify the cells that synthesize GAP-43 mRNA, we applied direct in situ reverse transcription-polymerase chain reaction (in situ RT-PCR) in cerebellum and hippocampus of adult rat brain. In situ RT-PCR revealed GAP-43 mRNA in cerebellar granule cells, in Purkinje cells and in some interneurons of the molecular layer. Previous in situ hybridization studies had demonstrated a dense label throughout the granular layer of the cerebellar cortex but no labeling of other cerebellar neurons. Hippocampal cells showing distinct GAP-43 mRNA signal after in situ RT-PCR were CA1 and CA3 pyramidal neurons, CA4 hilar cells, and dentate gyrus granule cells, whereas in situ hybridization studies had detected GAP-43 mRNA only in CA3 and CA1 pyramidal neurons. Our data indicate that GAP-43 mRNA is widely distributed, suggesting that many cell types are potentially involved in synaptic plasticity events. (J Histochem Cytochem 49:1195-1196, 2001)

Animals↗
PubMed2000

Enhanced liver blood concentrations of adenine arabinoside accomplished by lactosaminated poly-L-lysine coupling: implications for regional chemotherapy of hepatic micrometastases.

Conjugates of antiviral and antiblastic nucleoside analogs (NAs) with galactosyl-terminating peptides selectively enter hepatocytes after binding of the carrier galactose residues to the asialoglycoprotein receptor. Since NAs, when set free from the carrier within hepatocytes, partly exit from these cells into the bloodstream, we considered the possibility that administration of galactosyl-terminating conjugates of NAs could result in plasma concentrations of these drugs that would be higher in liver sinusoids than in capillaries of other organs. In the present study we demonstrated the validity of this hypothesis. We injected rats with a conjugate of adenine arabinoside (ara-A) with lactosaminated poly-L-lysine and found that the plasma concentrations of ara-A were >2-fold higher in blood of liver than in systemic circulation. Liver blood was collected from the inferior vena cava after closing below and above the outflows of the hepatic veins. The present result suggests that conjugation with galactosyl-terminating peptides might be a way to selectively increase the concentrations of NAs not only in hepatocytes, which have the asialoglycoprotein receptor, but also in cells infiltrating the liver, such as neoplastic cells of micrometastases nourished by hepatic sinusoids.

Amino Sugars↗
PubMed2000

Telomere-based neo-Darwinian selection of yeast clonal subpopulations.

In Saccharomyces cerevisiae, imbalance of the genes coding for the heterochromatin components Sir3p and histone H4 (namely, overdosage of SIR3 and lack of one of the two genes coding for H4) causes modifications in telomere length and telomere sequence organization, favoring the insertion of Y' elements into a stably shortened (C1-3A)n repeat tract. We report here that the newly inserted Y' elements are unstable and are lost with high frequency, generating clonal subpopulations with short telomeres, as revealed by the analysis of a specific telomere (LIII) and of the overall population of telomeres. Moreover, the growth rates of the subpopulations with and without Y' elements on LIII are different, the Y'-less individuals reproducing 20% more slowly than individuals bearing Y' elements. When grown together with Y'-bearing individuals, the subpopulations with the normal LIII telomere (which are viable and genetically stable if grown alone) are rapidly competed out. Hence, genetic imbalance for the structural components of heterochromatin results in a complex and rapidly changing mixture of subpopulations in such cultures. Thus, in situations where subpopulations are allowed to compete, heterochromatin-based differential growth rates result in neo-Darwinian clonal selection.

Genes, Fungal↗
PubMed2000

Leptin serum concentrations predict the responsiveness of obese children and adolescents to weight excess reduction program.

BACKGROUND: A role for leptin to predict weight gain is still controversial. OBJECTIVE AND DESIGN: To determine the relationship between baseline serum leptin values and responsiveness to an educational-based weight excess reduction program (WERP), 418 (241 males and 185 females) obese subjects, aged 9-15 y, were recruited. WERP required 2 y of follow-up. Body mass index (BMI) was evaluated at baseline and at each semester of follow-up. The obese subjects were subdivided into responsives and non-responsives, according to reduction or not of their BMI Z-scores during the WERP. Leptin concentrations were assayed at baseline and were included together with other independent variables in statistical multiple regression analysis. RESULTS: At a preliminary multiple regression analysis, a significant positive correlation between leptin values and BMI Z-score reduction at the second, third and fourth semester of follow-up was registered. To determine the odds ratio of the subjects who were responsive or non-responsive at the various semesters of WERP follow-up, a stepwise logistic regression was used incorporating the same predictors, with the serum leptin values subdivided into quintiles and responsiveness and non-responsiveness as a binary outcome variable. The model offered a satisfying goodness of fit as shown by the sensitivity and specificity. The odds ratio of being responsive were significantly increased by greater quintiles of leptin serum concentrations. Furthermore, such odds ratios were much higher in pubertal than in prepubertal subjects. CONCLUSIONS: These findings support a significant role for serum leptin concentration in predicting BMI changes as a response to an educational excess weight reduction program.

Adolescent↗
PubMed2000

Volume of focal brain lesions and hippocampal formation in relation to memory function after closed head injury in children.

OBJECTIVES: (1) A study of verbal learning and memory in children who had sustained a closed head injury (CHI) at least 3 months earlier. (2) To relate memory function to focal brain lesion and hippocampal formation volumes using morphometric analysis of MRI. METHODS: A group of 245 children who had been admitted to hospital for CHI graded by the Glasgow coma scale (GCS), including 161 patients with severe and 84 with mild CHI completed the California verbal learning test (CVLT) and underwent MRI which was analysed for focal brain lesion volume independently of memory test data. Brain MRI with 1.5 mm coronal slices obtained in subsets of 25 patients with severe and 25 patients with mild CHI were analysed for hippocampal formation volume. Interoperator reliability in morphometry was satisfactory. RESULTS: Severity of CHI and age at study significantly affected memory performance. Regression analysis showed that bifrontal, left frontal, and right frontal lesion volumes incremented prediction of various learning and memory indices after entering the GCS score and age into the model. Extrafrontal lesion volume did not contribute to predicting memory performance. CONCLUSIONS: Prefrontal lesions contribute to residual impairment of learning and memory after severe CHI in children. Although effects of CHI on hippocampal formation volume might be difficult to demonstrate in non-fatal paediatric CHI, further investigation using functional brain imaging could potentially demonstrate hippocampal dysfunction.

Adolescent↗
PubMed1999

Inhibition of [3H]thymidine incorporation into DNA of rat regenerating liver by 2',2'-difluorodeoxycytidine coupled to lactosaminated poly-L-lysine.

The expression of asialoglycoprotein receptor (ASGP-R) on human hepatocarcinoma cells might be exploited to reduce the extrahepatic toxicity of DNA synthesis inhibitors by their conjugation with galactosyl- terminating peptides. We conjugated 2',2'-difluorodeoxycytidine (dFdC), an inhibitor of DNA synthesis active on solid tumors, with lactosaminated poly-L-lysine (L-poly(LYS)). In experiments in vitro, L-poly(LYS)-dFdC inhibited proliferation of Hep G2 cells, a human hepatocarcinoma cell line which maintains the ASGP-R. Inhibition was rescued by asialofetuin. To study the pharmacological action of the conjugate in vivo, we used rats 18-24 hr after 2/3 hepatectomy and observed that regenerating hepatocytes expressed ASGP-R on their surface and internalized L-poly(LYS)-dFdC. Conjugate uptake by bone marrow, spleen, and intestine was negligible. We also found that L-poly(LYS)-dFdC inhibited [3H]thymidine incorporation into DNA of regenerating liver. These results indicated that hepatectomized rats were a suitable animal model to study the pharmacological action, on DNA-synthesizing hepatocytes, of conjugates binding to ASGP-R and carrying inhibitors of DNA synthesis. L-poly(LYS)-dFdC also inhibited [3H]thymidine incorporation in bone marrow, spleen, and intestine. Evidence was obtained that inhibition of DNA synthesis in extrahepatic tissues was a consequence of drug release from hepatocytes into blood-stream after the bond with the carrier has been broken down within liver cells. Possible ways of reducing the exit of dFdC from liver cells, thereby obtaining an inhibition of DNA synthesis restricted to dividing hepatocytes, were discussed.

Amino Sugars↗
PubMed1999

Imbalance in dosage of the genes for the heterochromatin components Sir3p and histone H4 results in changes in the length and sequence organization of yeast telomeres.

Telomeric heterochromatin plays an essential role in telomere function, including the regulation of telomere length. We observe that in Saccharomyces cerevisiae an imbalance in the dosage of genes for two protein components of heterochromatin (namely Sir3p and histone H4) causes modifications in telomere length and telomere sequence organization. The effects of Sir3p/H4 imbalance were analyzed in yeast strains in which the wild-type SIR3 gene (normally a single-copy gene) was either absent or present in 20-30 copies, and both histone H4 genes (HHF1 and HHF2) were present or HHF1 was deleted, thus covering a wide range of viable gene-dosage combinations. Modifications of telomeres and of subtelomeric regions were identified by analyzing both the overall telomere population and by focusing on two single telomeric regions: the left telomere of chromosome III (LIII) and the right telomere of chromosome XI (RXI). The modifications induced by alteration of the Sir3p/H4 ratio consist of a reduction in the length and an increase in the instability of the terminal block of (C(1-3)A)n repeats and in susceptibility to insertion of Y' elements into this repeat element. Restoration of the wild-type gene ratio (by removal of the extra copies of SIR3 or by complementation with the missing second copy of HHF) restored the original telomere organization, both with respect to the length of the (C(1-3)A)n repeat stretch and the absence of Y' elements. This behavior shows that the stability of the wild-type sequence organization requires maintenance of the normal structure of telomeric heterochromatin.

Chromosomes, Fungal↗
PubMed1999

In vivo amifostine (WR-2721) prevents chemotherapy-induced apoptosis of peripheral blood lymphocytes from cancer patients.

Aim of this work was to evaluate whether in vivo amifostine (WR-2721, ethanethiol, 2-[(3-aminopropyl)amino]-,dihydrogen phosphate (ester), Ethyol) pretreatment was able to prevent the apoptosis of peripheral blood lymphocytes (PBLs) induced by cytotoxic drugs. The study included 19 patients with advanced gynaecological cancers who received neoadjuvant polychemotherapy consisting of three cycles of cysplatin, adriamycin, and cyclophosphamide. Five patients received randomly amifostine pretreatment (910 mg/m2). PBLs apoptosis was measured through flow-cytometry using two different methods: a) DNA fragmentation of PBLs cultured in vitro for one hour; b) measurement of early apoptotic cells through Apostain uptake by fresh PBLs. The percentage of apoptotic PBLs was increased in all patients 24 hr after the first chemotherapy cycle (27.1 +/- 15.6 vs 6.3 +/- 6.2, p<.0001). A similar increase was observed in the following chemotherapy cycle. Amifostine pretreatment prevented the apoptosis of PBLs induced by chemotherapeutic drugs. Amifostine also prevented the reduction of lymphocyte number determined by chemotherapy. The results demonstrate that amifostine protects peripheral lymphocytes from the apoptotic damage induced by chemotherapy. This effect may explain the mechanism by which amifostine prevents the chemotherapy-associated reduction of leukocyte number.

Adult↗
PubMed1999

The asialoglycoprotein receptor in human hepatocellular carcinomas: its expression on proliferating cells.

The expression of the asialoglycoprotein receptor (ASGP-R) on human hepatocellular carcinoma (HCC) cells might be exploited to reduce the extrahepatic toxicity of DNA synthesis inhibitors by their conjugation with galactosyl-terminating peptides. In the present study we first assessed the frequency of ASGP-R expression in 60 HCCs. Secondly, we investigated whether the receptor was maintained on the plasma membranes of DNA synthesizing cancer cells. Needle biopsies of HCC were evaluated. Diagnosis and grading of HCC were performed on routine haematoxylin and eosin-stained sections according to Edmondson and Steiner (1953). Thirty-five tumours were grade I and II and were classified as well differentiated, while 25 tumours were grade III and IV and were classified as poorly differentiated. Sections from formalin-fixed, paraffin-embedded samples were incubated, after antigen retrieval, with an anti-ASGP-R monoclonal antibody revealed by secondary biotinylated antibody and streptavidin-biotin-peroxidase-diaminobenzidine reaction. A clear immunolabelling of plasma membranes of HCC cells was observed in 28 out of 35 (80%) well differentiated (grade I and II) and in five out of 25 (20%) poorly differentiated (grade III and IV) HCCs. The presence of the ASGP-R on the surface of DNA synthesizing cancer cells was also investigated after in vitro bromodeoxyuridine (BrdU) labelling of HCC samples by immunohistochemical visualization of both the ASGP-R and incorporated BrdU on the same section. The results obtained clearly demonstrated that DNA synthesizing cancer cells expressed the ASGP-R on their surface. The presence of ASGP-R on cell plasma membrane in the majority of differentiated HCCs and its maintenance on proliferating cells encourages studies in order to restrict the action of the inhibitors of DNA synthesis of HCC cells by their conjugation with galactosyl-terminating carriers internalized through this receptor.

Aged↗
PubMed1999

Using obese-specific charts of height and height velocity for assessment of growth in obese children and adolescents during weight excess reduction.

OBJECTIVE: The influence of weight excess reduction on height and height velocity of obese subjects should be evaluated on the basis of appropriate standards, since the pattern of growth of obese subjects is different from that of normal weight subjects. DESIGN, SUBJECTS AND MEASUREMENTS: Height, weight and triceps skinfold thickness were recorded from 17987 school subjects (9256 males and 8731 females), 3-18 y of age, from three provinces of central Italy, and a growth reference curve of height was constructed. Using BMI (as computed using the tables of Rolland-Cachera et al) and triceps skinfold thickness, normal-weight subjects (NWS) and obese subjects (OS) were identified and specific reference curves (mean+/-s.d. every sixth month of age) were developed for both groups. Centiles of height were also calculated for OS. Various (2-4) measurements of height in school subjects were performed and a graph of height velocity (HV) was constructed in NWS and in OS using the JPPS method. The yearly mean +/-s.d. of HV was also calculated, based on square root transformed data (in order to realise a Gaussian distribution), deriving from successive measurements in total subjects, in NWS and in OS. The z-scores of height and of the square root of HV were calculated in 217 obese subjects (125 males and 92 females) before and during a weight excess reduction programme (WERP). Obese subjects in WERP who showed a reduction of z-score of BMI were considered as 'responsive'; those who either maintained or showed an increase of z-score of BMI were considered as 'non-responsive'. Obese subjects in WERP were followed for 1-4 y, giving the following results: 0-1 y, 142 responsives and 75 non-responsives; 0-2 y, 76 responsives and 33 non-responsives; 0-3 y, 35 responsives and 30 non-responsives; 0-4 y, 24 responsives and 18 non-responsives. RESULTS: Compared to NWS, OS showed a significantly greater HV in 4-9y males and in 4-8y females, but in older children the pubertal spurt was reduced and more precocious. As a result, the height of OS, which was greater in 3-13 year-old males and in 3-11.5 year-old females, subsequently showed a reduction, as compared to that of NWS, in 16-18 year-old males and in 13-18 year-old females. In both responsive and non-responsive groups of obese subjects in WERP, the z-scores of height showed a reduction during WERP when evaluated using the reference curve of the total school population. In contrast, when their growth was evaluated according to the obese-specific reference curve, no significant variation was observed comparing both z-scores before and during the WERP. CONCLUSIONS: More appropriate information on the growth of obese subjects may be obtained when evaluating the height and HV according to obese-specific reference standards from the same population of origin. Adopting this modality, no significant variation of height resulted during WERP in obese children.

Adolescent↗
PubMed1998

Flow cytometric analysis of CD3/TCR complex, zinc, and glucocorticoid-mediated regulation of apoptosis and cell cycle distribution in thymocytes from old mice.

Apoptosis represents the main mechanism involved in the intrathymic cell selection. The involution and atrophy of the thymic gland during aging has been associated with an altered representation of thymocyte subsets and particularly of CD4+CD8+ double-positive (DP) thymocytes, i.e., the cell population mainly involved in thymocyte selection. The aim of the present study was to evaluate the responsiveness of thymocytes from old mice to factors regulating the apoptotic cell death, such as antibodies to CD3/T cell receptor complex, zinc, and dexamethasone (DEX). Balb/c mice were used at the ages of 2 months (young), 21-22 months (old), and 24-26 months (very old). Thymocytes from these mice were incubated overnight with anti-CD3 monoclonal antibody (8 microg/ml), Zn2+ (150 microM), or DEX (10[-7] M) and then analysed for number of apoptotic nuclei, cell cycle phase, and phenotype by flow cytometry. A significant decrease of both the total number and the proportion of DP thymocytes was present in old and very old mice in comparison with young animals. Antibodies to CD3 antigen induced thymocyte apoptosis in both young and old mice. The stimulation of the CD3/TCR complex was more effective in giving apoptosis in very-old than in old and young mice. An impairment of the inhibiting effect of zinc on apoptosis induced by either serum deprivation or DEX was found in old and very old mice, whereas zinc was less effective in inhibiting CD3-induced apoptosis only in very old animals. Reduced DEX-induced apoptosis was also present in old age; this effect was more evident in very old than in old mice. Thymocyte apoptosis in old mice required protein synthesis being blocked with cycloheximide. Apoptosis was exerted on thymocytes in a specific cell cycle phase, i.e., on G0/G1 phase cells. Anti-CD3 antibodies, Zn2+, or DEX regulated apoptosis by modulating the proportion of DP thymocytes. The results demonstrate an altered in vitro responsiveness of thymocytes from old and very old mice to factors regulating apoptosis and suggest further investigations to determine if this altered responsiveness is associated with increased apoptosis of thymocyte populations occurring with increasing age.

Aging↗
PubMed1998

Generation of human lymphokine-activated killer cells following an IL-2 pulse in elderly cancer patients.

The toxicity of high-dose interleukin 2 (IL-2) treatments limits its use in tumour therapies, particularly in older age groups, characterized by a reduced tolerance to antineoplastic therapies. Here, we evaluated the possibility to induce cytotoxic lymphokine-activated killer (LAK) cells through a brief exposure (1-h pulse) of peripheral blood mononuclear cells (PBMC) from elderly cancer patients to high concentrations of IL-2. The cytotoxic activity, phenotype, apoptosis, and cell cycle phase of IL-2 pulsed PBMC were determined and compared with those of non-pulsed PBMC cultured continuously in IL-2. Significant levels of LAK cytotoxicity were obtained in pulsed PBMC from all patients examined. The mean values of lytic activity on day 6 of culture were lower, even if not significantly, in pulsed than non-pulsed cultures. The pulsed cells were phenotypically similar to non-pulsed lymphocytes with regards to the expression of CD3, CD4, CD8, CD16, and CD56 antigens. The induction of activation markers, like CD25 and CD122 IL-2 receptors and CD71 transferrin receptor, was also comparable in pulsed and non-pulsed cultures. When a lower cytotoxicity was found in pulsed cultures, a lower number of CD54+ (ICAM-1) cells was also found. LAK cell cytotoxicity and number of CD54 cells were significantly correlated. No difference was found between pulsed and non-pulsed cultures in their cell cycle phase or in the percentage of apoptotic cells. Autologous plasma did not inhibit the differentiation of pulsed PBMC into LAK cells. The IL-2 pulse of PBMC from healthy young donors resulted in the induction of LAK cytotoxicity as observed in elderly cancer patients. The results demonstrate the effectiveness of IL-2 pulse to generate cytotoxic LAK cells in elderly cancer patients suggesting the potential application of pulsing procedures to treatment of older age groups.

Adult↗
PubMed1998

Fasting serum leptin levels in the analysis of body mass index cut-off values: are they useful for overweight screening in children and adolescents? A school population-based survey in three provinces of central Italy.

OBJECTIVE: Body mass index (BMI) was determined in a population of school students from three provinces of central Italy. Fasting serum leptin concentrations were assayed in a large number of subjects from the same area, to determine their distribution as plotted against the standard deviation score (z-score) of BMI. DESIGN, SUBJECTS AND MEASUREMENTS: Height and weight were recorded from 31170 subjects (16175 male and 14995 female), aged 3-18 y, to construct BMI charts of children and adolescents from central Italy. Percentiles and z-score were calculated using the LMS method of Cole. Serum leptin concentrations were assayed in 1929 subjects (996 male and 933 female) after overnight fasting. RESULTS: BMI percentiles of central Italy were higher than those from standards of other European and USA populations. When plotted against the z-score of BMI, serum leptin values were distributed according to an exponential curve, showing a steep pattern and a wide distribution, as BMI values increased. The hypothesis of the existence of two subgroups, based on a different relation between leptin and BMI, was verified and a separation point between the two subgroups was identified using cluster analysis, discriminant analysis and a novel method developed by our group, hereafter referred to as 'regression clustering'. This method allows identification of the value of the independent variable (z-score of BMI) which can be taken as a separation point. This analysis provided the best results and indicated the following separation points: central Italy standard, z-score = 0.72 (76.4th percentile) for males and z-score = 0.69 (75.5th percentile) for females; French standard (the one suggested for a European population by the European Childhood Obesity Group, ECOG), z-score = 1.46 (92.8th percentile) for males and z-score = 1.96 (97.5th percentile) for females. Similar but variable results were obtained when the same analysis was performed on serum leptin concentration, subdivided according to pubertal development (stage I, stage II-III, stage IV-V). CONCLUSIONS: Children and adolescents from central Italy had greater BMI percentiles when compared to other European populations. Fasting serum leptin concentrations showed a distribution pattern related to z-score, thus allowing to identification of two different subgroups. The z-scores of BMI, identified as separation points, indicated a trend to leptin production by adipocytes that could be taken as indicators of significant increases of fat mass. This study proposes criteria and a statistical approach that could be useful in the identification of BMI cut-off values when screening children and adolescents for overweight.

Adolescent↗
PubMed1998

Effect of zinc or zinc plus arginine supplementation on antibody titre and lymphocyte subsets after influenza vaccination in elderly subjects: a randomized controlled trial.

OBJECTIVE: to evaluate whether oral supplementation with zinc or zinc/arginine increases the antibody response to influenza vaccine or modulates the lymphocyte phenotype in elderly subjects. DESIGN: a randomized controlled trial with two supplemented groups and one control group. SETTING: a community nursing home. PARTICIPANTS: 384 subjects aged 64-100 (mean age 82 years) examined in three separate studies. INTERVENTION: oral supplementation with zinc (400 mg/day) or zinc plus arginine (4 g/day) for 60 days starting 15 days before influenza vaccination. The control groups received vaccine only. MEASUREMENTS: haematological and nutritional indices, antibody titre against influenza viral antigens, lymphocyte phenotype. RESULTS: supplementation with zinc or zinc plus arginine increased zinc plasma concentrations restoring the age-related impairment in zinc concentrations to values found in younger people. The antibody titre against influenza viral antigens was not increased in zinc or zinc/arginine supplemented groups in comparison with subjects receiving vaccine alone. The number of CD3, CD4 or CD8 lymphocytes was not affected by zinc or zinc/arginine supplementation. CONCLUSION: prolonged supplementation with zinc or zinc/arginine restores zinc plasma concentrations but is ineffective in inducing or ameliorating the antibody response after influenza vaccination in elderly subjects.

Aged↗
PubMed1998

Attitude of potential users in Sicily towards preimplantation genetic diagnosis for beta-thalassaemia and aneuploidies.

This study aims to report the willingness of different populations of high-risk couples to undergo preimplantation genetic diagnosis (PGD) for beta-thalassaemia as an alternative to prenatal genetic diagnosis (PND), and the willingness of infertile couples to undergo PGD for aneuploidies. An information sheet and questionnaire presenting PGD and PND procedures were distributed to four population types: 54 high-risk couples for beta-thalassaemia coming for their first PND (population A); 51 similar couples coming for their second or further PND without previous experience of therapeutic abortion (population B-na); 50 similar couples coming for their second or further PND with previous experience of therapeutic abortion for beta-thalassaemia-affected fetus (population B-ab); and 74 infertile couples undergoing routine in-vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) (population C). Favourable first impressions towards PGD compared with PND were observed in all four populations in the following proportions: 79.6% population A; 76.5% population B-na; 92.0% population B-ab; and 96.0% population C. Willingness to undergo PGD for beta-thalassaemia was as follows: 44.4% population A; 47.1% population B-na; and 72.0% population B-ab. We conclude that previous experience of PND for beta-thalassaemia is a crucial point in the willingness to accept the PGD procedure, and that couples belonging to population B-ab are the most suitable to undergo PGD for beta-thalassaemia. Some 96.0% of infertile couples in population C were ready to undergo PGD for aneuploidies.

Abortion, Therapeutic↗