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Biomedical subjects

Ariane Paoloni-Giacobino

Publications and source records attributed to Ariane Paoloni-Giacobino.

13 recordsLinked to original sources
PubMed2007

Chromosome Y polysomy: a non-mosaic 49,XYYYY case.

Karyotypic abnormalities involving the Y chromosome are common. The clinical spectrum associated with Y chromosome trisomy, tetrasomy or pentasomy is imprecise, as still very few cases have been reported. All cases, however, seem to exhibit some degree of mental retardation and minor facial dysmorphisms. The case we describe is only the fifth reported case of non-mosaic Y tetrasomy. This report and follow-up of a patient, between 4 months and 26 years of age, will certainly be helpful in better characterizing this karyotypic defect.

Adolescent↗
PubMed2006

Specific differentially methylated domain sequences direct the maintenance of methylation at imprinted genes.

Landmark features of imprinted genes are differentially methylated domains (DMDs), in which one parental allele is methylated on CpG dinucleotides and the opposite allele is unmethylated. Genetic experiments in the mouse have shown that DMDs are required for the parent-specific expression of linked clusters of imprinted genes. To understand the mechanism whereby the differential methylation is established and maintained, we analyzed a series of transgenes containing DMD sequences and showed that imperfect tandem repeats from DMDs associated with the Snurf/Snrpn, Kcnq1, and Igf2r gene clusters govern transgene imprinting. For the Igf2r DMD the minimal imprinting signal is two unit copies of the tandem repeat. This imprinted transgene behaves identically to endogenous imprinted genes in Dnmt1o and Dnmt3L mutant mouse backgrounds. The primary function of the imprinting signal within the transgene DMD is to maintain, during embryogenesis and a critical period of genomic reprogramming, parent-specific DNA methylation states established in the germ line. This work advances our understanding of the imprinting mechanism by defining a genomic signal that dependably perpetuates an epigenetic state during postzygotic development.

Animals↗
PubMed2006

Implications of reproductive technologies for birth and developmental outcomes: imprinting defects and beyond.

Assisted reproductive techniques (ARTs) have been widely used over the past two decades to help infertile couples conceive. Recent studies on the ART-conceived population have raised concern about the possible risks of these techniques, in particular with regard to increased incidence of growth and developmental disorders. Some of these effects might be linked to genomic imprinting defects, although current evidence does not allow definite conclusions to be drawn. This review summarises studies that have examined effects of gamete and embryo manipulations on imprinted genes, and discusses the evidence for and against effects of ARTs on offspring health, and in particular imprinting-related conditions.

Animals↗
PubMed2005

[A boy or a girl: who decides?].

In theory, humans produce an equal proportion of boys and girls. However, neither at conception nor at birth are both sexes equally represented. Environmental and individual changes are thought to play a role in the observed sex-ratiodeviations. One of the key-mediator may be the individual (genetic) and environmental hormonal variations and their influence on gametogenesis, embryo implantation and development.

Decision Making↗
PubMed2005

A 3-year longitudinal study on body composition changes in the elderly: role of physical exercise.

BACKGROUND: Cross-sectional data have shown that sarcopenia and fat accumulation are associated with aging and can be limited by structured physical training. However, it is often difficult to maintain a long-term compliance to training programs. It is not clear whether leisure-time physical activity is effective in preventing sarcopenia and fat accumulation. OBJECTIVES: (i) To investigate longitudinal body composition changes in a population of elderly people in good apparent health. (ii) To evaluate the impact of leisure-time physical activity on muscle mass and characteristic as reflected by total body potassium per fat-free soft tissue (TBK/FFST), and on fat accumulation. DESIGN: Longitudinal evaluation over 3 years, of body composition changes in 74 healthy men and 66 women, over 65 years old. Body fat and FFST were analyzed by dual-energy X-ray absorptiometry and TBK by whole-body (40)K counter. Physical activity was analyzed by a specific questionnaire. RESULTS: Despite a stable total body weight, FFST and appendicular skeletal muscle mass slightly decreased (-0.3+/-1.4 and -0.2+/-2.2 kg, P<0.01, respectively) as well as the TBK/FFST (-4.1+/-6.3 mmol/kg, P<0.001), over the 3-year period. Body fat increased significantly (0.6+/-2.2 kg, P<0.0001), and it accumulated mainly in the abdomen (0.4+/-1.5 kg, P<0.01). Multiple regression analysis showed that body composition changes were related mainly to body weight changes. Nevertheless, positive linear correlations were observed between the degree of engagement in leisure-time physical activity and FFST (P<0.01), appendicular skeletal muscle mass (P<0.05), TBK/FFST (P<0.05), whereas negative correlation was observed with total and truncal fat (P<0.01). CONCLUSIONS: Mild but significant decline in muscle mass and its TBK content, and body fat accumulation were observed over a 3-year period in healthy elderly subject: leisure-time physical activity does not seem to prevent them. However, a higher level of physical activity is associated with higher muscle mass and TBK content, and less total and truncal fat.

Absorptiometry, Photon↗
PubMed2004

Genomic imprinting and assisted reproduction.

Imprinted genes exhibit a parent-of-origin specific pattern of expression. Such genes have been shown to be targets of molecular defects in particular genetic syndromes such as Beckwith-Wiedemann and Angelman syndromes. Recent reports have raised concern about the possibility that assisted reproduction techniques, such as in vitro fertilization or intracytoplasmic sperm injection, might cause genomic imprinting disorders. The number of reported cases of those disorders is still too small to draw firm conclusions and the safety of these widely used assisted reproduction techniques needs to be further evaluated.

Journal Article↗
PubMed2004

[Anomalies of sex chromosomes in amniocentesis].

When sex chromosome abnormalities are detected by amniocentesis, the concerned couples have to face a difficult decision with regards to the pregnancy issue. Indeed the prognosis of these chromosomal abnormalities is favorable, developmental defects being generally not considered as severe. We have analysed 113 cases of sex chromosome abnormalities detected by amniocentesis and compared the pregnancy issues. The cases were obtained from the Centre Hospitalier de Chambéry and the Hôpitaux Universitaires de Genève. When such abnormalities are detected, the couple's decision can be variable, depending on many factors, as the country of origin. The goal of genetic counseling is to provide as many informations as possible to the concerned couples, in order to let them make an informed decision.

Amniocentesis↗
PubMed2003

[Growth hormone and carcinogenesis: the point on the question].

Over the past 20 years, the use of recombinant growth hormone (rhGH) has become more frequent and the indications for this therapy extended to more common conditions than primary pituitary dysfunction. GH, a very strong anabolic agent, alters body growth and composition, and metabolic pathways. RhGH therapy seems to be beneficial in certain types of pathologies and surgical procedures, by preventing the deleterious effects due to catabolism and by increasing immune function, healing process and muscular strength. Several types of tumors have been studied to investigate the rhGH-related oncological risks. This article aims at reviewing the clinical studies focused on the possible association between rhGH and cancer.

Growth Hormone↗
PubMed2003

[Awareness on nutritional problems at hospitals: which solutions?].

Malnutrition is very frequent in hospitalized patients, particularly if they are elderly and suffer of chronic diseases. Many studies show the correlation between the degree of malnutrition and the frequency of complications, the length of hospital stay and the rate of mortality. However, despite the rising interest of scientists for the role of nutrition in the pathogenesis of the diseases, little attention is devoted to the nutritional status of patients. This article reviews the recent literature regarding hospital malnutrition. At hospital admission, 30 to 40% of patients presents a certain degree of malnutrition. However, only a small percentage is recognized to be malnourished and receive an adequate treatment. The reason for this attitude of medical and paramedical teams seems to be a low priority assigned to nutrition. In addition, they seem to lack the most basic knowledge regarding the metabolic needs of their patients. Another finding, reported by several surveys, is that a large portion of hospital food is not consumed by the patients but is wasted. In fact, meals are not sufficiently-adapted to the taste and the appetite of those for whom they are prepared. This article summarizes the recommendation of the Europe Council regarding the nutritional evaluation and treatment of patients.

Hospitalization↗
PubMed2002

Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors.

DNA sequences of mono-, di-, and trinucleotide repeats are prone to replication errors and thus constitute mutational hot spots. This is well illustrated by the occurrence of DNA microsatellite instability in tumors from patients affected by hereditary nonpolyposis colorectal cancer (HNPCC) resulting from a defect in a gene that participates in postreplicative DNA mismatch repair (MMR). We selected repeat sequences present within coding regions of four genes involved in either cell proliferation or promotion of apoptosis. These repeats consisted of (A)10 in the TGF beta RII, (G)8 in the BAX, (A)8 in the CASP1, and (CCA)7 in the APP genes. These repeats were analyzed in ten tumors from HNPCC patients carrying a germline pathogenic mutation in the MMR gene MLH1. For each tumor the rate of somatic replication errors was measured by sequencing 20-50 cloned PCR-amplified fragments. Substantial intertumor variations were observed in the pattern of repeat alterations, with error rates varying between 12% and 80% for TGF beta RII, 2% and 84% for BAX, 0% and 30% for CASP1, and 0% to 18% for APP. The BAX repeat error rate did not exceed 20% in nine of the ten tumors, in contrast to results from previous studies. High error rates in more than one gene in a same tumor suggested additive selective effects from inactivation of different pathways influencing tumorigenesis. Our methodology can contribute to define tumor characteristics and may, if applied to genes strongly involved in tumorigenesis, improve tumor classification and outcome prediction.

Adaptor Proteins, Signal Transducing↗
PubMed2002

Fire-settng behavior associated with Klinefelter syndrome.

This is a report on a male patient with a previous history of psychotic disorder who was arrested for arson. During the following hospitalization in a psychiatric unit, a genetic syndrome, namely Klinefelter syndrome (47,XXY), was diagnosed. The association between firesetting behavior and Klinefelter syndrome is reviewed, and the underlying explanatory hypothesis is discussed.

Adult↗