[Perception and assessment of pain by caregiver and adolescent with sickle cell disease: The impact of the patient's anxiety]. / Perception et évaluation de la douleur par le soignant et l'adolescent drépanocytaire : impact de l'anxiété du patient.

Pain is the main symptom in sickle cell disease and is a major issue in its management. Its complexity often makes assessment difficult for both patients and caregivers. This study looks for a link between anxiety in children with sickle cell disease at the beginning of their hospital stay and the difficulties experienced by caregivers to assess their pain. Forty teenagers hospitalized for a vaso-occlusive crisis were included in this prospective study. To determine which patients were "difficult to assess," a self-assessment of pain combined with a nursing assessment were proposed to patients (NS [numerical scale] and FLACC [Face Legs Activity Cry Consolability]). Feedback from specialized physicians was collected. In this study, no objective criteria allowed us to determine whether patients were "difficult to assess." At the beginning of the hospital stay, self-assessment for pain and nurse assessment with the NS matched. In this context, the FLACC scale did not assist in determining the pain score accurately. Patients identified as difficult to assess by physicians are more anxious than others.

[Development of psychological and intellectual performance in transplanted sickle cell disease patients: a prospective study from pretransplant period to 5 years after HSCT]. / Développement psycho-intellectuel des enfants drépanocytaires ayant reçu une allogreffe de cellules souches hématopoïétiques.

RATIONALE: Allogeneic hematopoietic stem-cell transplantation (HSCT) is the only curative treatment for sickle cell disease (SCD). Cerebral vasculopathy was the principal indication for transplantation. These children could present impaired neuropsychological development related to different causes, hence the value of exploring their intellectual capacities before and after transplantation. MATERIAL AND METHODS: Prospective longitudinal study from 1992 to 2006 in all transplanted SCD patients. The patients were assessed using Wechsler scales with four different indices: verbal comprehension, perceptual reasoning, working memory, and processing speed (PSI), providing a full-scale intellectual quotient (IQ). RESULTS: Fifteen SCD patients (8 females and 7 males; mean age, 8.9 years) were evaluated before and 36 and 60 months after transplantation. All were from Africa and lived in France. All patients except 2 had experienced ischemic stroke before HSCT. The median full-scale IQ was 87, 94, and 94 before transplantation and 36 months and 60 months after HSCT, respectively. DISCUSSION: At pre-HSCT evaluation, full-scale IQ was considered as "low average". This relatively poor result could be related to impairment of PSI, which reflects frequent graphic and motor abnormalities related to the previous stroke experienced by almost all patients. At 3 years after HSCT, all indices including IQ had increased. Only the PSI had decreased, this observation being potentially related to previous stroke and to the depression frequently experienced by the transplant recipient patient after the acute phase, when the disease is cured. At 5 years after HSCT, the median full-scale IQ was stable and the PSI had increased. CONCLUSION: At the end of follow-up, the patients improved their physical and psychological well-being. This allowed them to build projects for the future and to manifest the desire of becoming an adult. Bone marrow transplantation in this cohort of children with SCD and severe cerebral vasculopathy is associated with improved performance as measured by the Wechsler scale.

Current to frequency conversion in a Josephson circuit.

The voltage oscillations which occur in an ideally current-biased Josephson junction were proposed to make a current standard for metrology. We demonstrate similar oscillations in a more complex Josephson circuit derived from the Cooper pair box: the quantronium. When a constant current I is injected in the gate capacitor of this device, oscillations develop at the frequency f(B)=I/2e, with e the electron charge. We detect these oscillations through the sidebands induced at multiples of f(B) in the spectrum of a microwave signal reflected on the circuit, up to currents I exceeding 100 pA. We discuss the potential interest of this current-to-frequency conversion experiment for metrology.

Zener enhancement of quantum tunneling in a two-level superconducting circuit.

We have investigated the macroscopic quantum tunneling (MQT) of the phase across a Josephson junction embedded in a superconducting circuit. This system is equivalent to a spin 1/2 particle in a potential energy well. The MQT escape rate of such a particle was recently predicted to be strongly modified when a crossing of its inner Zeeman levels occurs while tunneling. In this regime, we observe a significant enhancement of the MQT rate and compare it to theory.

NMR-like control of a quantum bit superconducting circuit.

Coherent superpositions of quantum states have already been demonstrated in different superconducting circuits based on Josephson junctions. These circuits are now considered for implementing quantum bits. We report on experiments in which the state of a qubit circuit, the quantronium, is efficiently manipulated using methods inspired from nuclear magnetic resonance (NMR): multipulse sequences are used to perform arbitrary operations, to improve their accuracy, and to fight decoherence.

[Significance of post-partum diagnosis of congenital toxoplasmosis primary maternal infection at the end of the pregnancy]. / Intérêt du dépistage en post-partum de la toxoplasmose congénitale après primo-infection maternelle en fin de grossesse.

We report two cases of congenital toxoplasmosis following maternal primary infection occurring late during pregnancy. These congenital infections are often asymptomatic at birth and can be recognized only by an appropriate serological screening program performed in mothers after delivery.

BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.

An account of familial aggregation in breast/ovarian cancer has become possible with the identification of BRCA1 germ-line mutations. We evaluated, for 249 individuals registered with the Institut Curie in Paris, the prior probability that an individual carried a mutation that predisposes to these diseases. We chose 160 women for BRCA1 analysis: 103 with a family history of breast cancer and 57 with a family history of breast-ovarian cancer. To detect small mutations, we generated and analyzed 35 overlapping genomic PCR products that cover the coding portion of the gene, by using denaturing gradient gel electrophoresis. Thirty-eight truncating mutations (32 frameshifts, 4 nonsense mutations, and 2 splice variants) were observed in 15% of women with a family history of breast cancer only and in 40% of those with a history of breast-ovarian cancer. Twelve of 25 distinct truncating mutations identified were novel and unique. Most BRCA1 mutations that had been reported more than five times in the Breast Cancer Information Core were present in our series. One mutation (5149del4) observed in two apparently unrelated families most likely originates from a common ancestor. The position of truncating mutations did not significantly affect the ratio of the risk of breast cancer to that of ovarian cancer. In addition, 15 DNA variants (14 missense mutations and 1 neutral mutation) were identified, 9 of which were novel. Indirect evidence suggests that seven of these mutations are deleterious.

Sublocalization of smallest common regions of deletion on chromosome 17q12-q23 in sporadic primary breast-tumors.

Frequent loss of heterozygosity (LOH) on the long arm of chromosome 17 has been described in breast tumor DNAs by a number of groups, and recent fine genetic mapping and cloning of an inherited breast-ovarian cancer susceptibility locus (BRCA1) to a small region of 17q12-q21 has focused interest on this area. The absence of sporadic mutations in the BRCA1 gene in breast tumors studied so far suggests that there may be other tumor suppressor genes in the region involved in sporadic breast cancer. We studied 28 sporadic breast cancers with 14 highly polymorphic markers on chromosome 17 (2 on 17p and 12 on 17q). Most of the 17q markers are located within the 17q12-q23 region. We confirmed that 50% of tumors have deletions of at least one locus on chromosome arm 17q, and that half the deleted cases probably correspond to monosomies 17 or 17q. The other half correspond to a partial deletion on 17q and were used to identify 2 smallest common deleted regions (SCDR1 and SCDR2) on 17q12-q23. SCDR1 comprised the THRA1 gene, but not the 2 flanking loci tested (D17S250 and D17S800); while SCDR2 was defined by loci GIP and GH. BRCA1 was deleted in half the cases but it is outside the SCDR1. Moreover, breast tumors in young women frequently showed chromosome 17 alterations.