ABSTRACT
BACKGROUND: Placebo use is widespread in clinical practice. However, they are most often administered deceptively rather than openly. It is often suggested that open-label placebos (OLP) are less effective than deceptive placebos (DP). This study aimed to compare the use of DP and OLP treatments to reduce pain in healthy volunteers. METHODS: We conducted a non-inferiority, parallel, randomized, controlled trial, which also included a nested cross-over no-treatment condition. This study was conducted at a university clinic in France. RESULTS: We included 60 subjects and the main result shows that the OLP was not inferior to the DP by a margin of 10 mm. The mean difference between both groups regarding intensity of pain was 0.7 mm with a 95% compatibility interval (95% CI) of ]-∞; 5.4], and 97.5% CI of ]-∞; 6.3]. Secondary outcomes require cautious interpretation of the effect of placebo versus no treatment due to a time-treatment interaction. CONCLUSION: The study indicates that OLP may perform just as well as DP and could provide support for the use of OLP as an ethical alternative to DP when they are to be used in a clinical setting. If only patients knew about the placebo nature of some treatments they are receiving, unnecessary lies could be avoided while maintaining similar placebo effects. SIGNIFICANCE: This study is the first to show non-inferiority of placebos administered honestly, also called OLP, compared to DP in reducing pain. This suggests that OLP could be as effective as their deceptive counterparts while having the ethical advantage of not being required to lie. If deception is not a necessary condition for efficacy, OLP should be preferred over DP.
Subject(s)
Pain , Research Design , Humans , France , Healthy Volunteers , Pain/drug therapy , Placebo EffectABSTRACT
Prenatal diagnosis of trisomy 21 would be easier if fluorescence in situ hybridization (FISH) could be applied to interphase nuclei. Therefore, we prepared a chromosome-21-specific probe by in vitro enzymatic amplification of inter-Alu sequences from YAC clones previously localized to this chromosome. This probe was used for FISH on 22 uncultured amniocyte samples. An easy, rapid, and safe technique is proposed for the prenatal diagnosis of trisomy 21.
Subject(s)
Amniocentesis/methods , Chromosomes, Artificial, Yeast , DNA Probes , Down Syndrome/diagnosis , Base Sequence , Chromosomes, Human, Pair 21 , DNA Primers , Down Syndrome/genetics , Female , Fetal Diseases/diagnosis , Humans , In Situ Hybridization, Fluorescence/methods , Interphase , Molecular Sequence Data , Polymerase Chain Reaction/methods , Pregnancy , Repetitive Sequences, Nucleic AcidSubject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 6 , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/pathology , Adult , Comparative Genomic Hybridization/methods , Female , Fetus/metabolism , Fetus/pathology , Humans , Oligonucleotide Array Sequence Analysis/methods , Polycystic Kidney Diseases/complications , Polycystic Kidney Diseases/diagnosis , PregnancyABSTRACT
OBJECTIVES: Deletion of short arm of chromosome 4 is difficult to ascertain prenatally, and can be missed. METHODS: A prenatal suspicion of 4p- syndrome was thoroughly investigated by using two-dimensional and three-dimensional sonography, with a description of the fetal face dysmorphological pattern. The cytogenetic confirmation, obtained by karyotype and FISH technique, allowed a precise description of the prenatal abnormalities. Post-termination tridimensional helicoidal scanner of the fetal face was performed. RESULTS: The main anomaly discovered using two-dimensional sonography was the presence of a strikingly thick prefrontal edema (8 mm, twice the normal values, at 22 weeks: 3.81 +/- 0.62 mm). Three-dimensional sonography showed the classical postnatal profile, with the phenotypic aspect of a 'Greek warrior helmet'. Nasal bones were normal in size and placement, confirmed by helicoidal scanner. CONCLUSION: Prenatal diagnosis of 4p deletion syndrome can be difficult, and it is the presence of prefrontal edema, associated with more subtle facial anomalies (short philtrum, microretrognathia) which should trigger cytogenetic investigation for 4p- deletion, even with only borderline growth retardation.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 4 , Craniofacial Abnormalities/diagnosis , Edema/etiology , Forehead , Adult , Female , Fetal Growth Retardation/diagnostic imaging , Humans , In Situ Hybridization, Fluorescence , Pregnancy , Prenatal Diagnosis , Syndrome , Ultrasonography, PrenatalABSTRACT
The cytogenetic studies of gametes and embryos reveal the incidence of chromosomic abnormalities in medically assisted pregnancies. When extended to natural fecundation, these data enable a better comprehension of the place and the role of the selection in the quality of the conceptus.
Subject(s)
Chromosome Aberrations , Chromosome Disorders , Fertilization in Vitro , Abortion, Spontaneous/etiology , Aneuploidy , Chromosome Aberrations/diagnosis , Cytogenetics , Female , Humans , Infant, Newborn , Male , Ploidies , Pregnancy , Prenatal DiagnosisABSTRACT
The 11q;22q translocations, whatever the breakpoints may be, are of particular interest because of their propensity to 3:1 segregation of the chromosomes at meiosis I. Until now, no unbalanced karyotype resulting from 2:2 adjacent segregation was published among offspring of 11q;22q translocation carriers. The authors report the case of an unbalanced karyotype due to adjacent 1 segregation of a maternal translocation (11;22)(q23.3;q13.2). The proband's karyotype was 46,XX,-22,+der(22)(11;22)(q23.3;q13.2)mat. This finding demonstrates that adjacent 1 segregation is possible in t(11;22) with breakpoints at 11q23 and 22q13, and can lead to birth of viable infants.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 11/ultrastructure , Chromosomes, Human, Pair 22/ultrastructure , Translocation, Genetic , Bone and Bones/abnormalities , Cutis Laxa/genetics , Face/abnormalities , Female , Humans , Infant , KaryotypingABSTRACT
A de novo structural abnormality of one X chromosome was prenatally detected in a female fetus. This chromosomal abnormality has been analyzed by conventional cytogenetic methods, fluorescence in situ hybridization, and laser scanning image cytometry. The association of these techniques has demonstrated that this anomaly corresponds to a (X;X) translocation. Analysis of hybridization signals by laser scanning image cytometry allowed to localize that the breakpoints were at the X-centromeric region and Xp11.3, respectively. These results show the usefulness of image analysis and fluorescence in situ hybridization for a rapid characterization of de novo structural chromosome anomalies in prenatal diagnosis.
Subject(s)
Image Cytometry , In Situ Hybridization, Fluorescence , Prenatal Diagnosis/methods , Sex Chromosome Aberrations/diagnosis , Translocation, Genetic/genetics , X Chromosome/genetics , Adult , Female , Humans , Pregnancy , Sex Chromosome Aberrations/geneticsABSTRACT
The human gene encoding coproporphyrinogen oxidase is the defective gene in hereditary coproporphyria. This gene was mapped to chromosome band 3q12 using fluorescent in situ hybridization. The chromosomal localization was confirmed by cosegregation of the human gene with chromosome 3 in a panel of human/rodent somatic hybrids.
Subject(s)
Chromosome Mapping , Chromosomes, Human, Pair 3 , Coproporphyrinogen Oxidase/genetics , Animals , Base Sequence , Cells, Cultured , Humans , Hybrid Cells , In Situ Hybridization, Fluorescence , Lymphocytes , Molecular Sequence Data , RodentiaABSTRACT
The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the use of four commercially available centromeric DNA probes (DXZ1, DYZ1, D18Z1, and D13Z1/D21Z1) for direct analysis of uncultured amniocytes. One hundred and sixteen amniotic fluid samples were analysed by FISH and standard cytogenetics. This evaluation demonstrated that FISH with X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory. In contrast, the 13/21 alpha satellite DNA probe hybridizing both chromosomes 13 and 21 was unreliable for prenatal diagnosis in uncultured amniocytes.
Subject(s)
Amniotic Fluid/cytology , Aneuploidy , Chromosome Aberrations , DNA Probes , In Situ Hybridization, Fluorescence , Prenatal Diagnosis , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 18 , Chromosomes, Human, Pair 21 , DNA, Satellite , Female , Humans , Interphase , Karyotyping , Male , Pregnancy , Prospective Studies , X Chromosome , Y ChromosomeABSTRACT
Fluorescence in situ hybridization (FISH) allows to diagnose aneuploidy in uncultured interphase nuclei. This rapid method of chromosomal analysis associated with cell-sorting techniques was realized on 47,XYY fetal cells isolated from maternal blood. Trophoblast cells were sorted by combining immunomagnetic removal of maternal lymphocytes and flow cytometry sorting using antitrophoblast monoclonal antibodies. Cells were sorted directly on slides and analyzed by FISH with a Y-centromeric probe. Among 1,387 examinable nuclei, 59 (4.25%) showed one single or two Y-specific domains.