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Publications 2010 des Services du site Necker :
10ème semaine
(mise à jour du lundi 8 mars 2010)

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(ordre alphabétique du 1er auteur)

BIDET M., BELLANNE-CHANTELOT C., GALAND-PORTIER M.B., GOLMARD J.L., TARDY V., MOREL Y., CLAUIN S., COUSSIEU C., BOUDOU P., MOWZOWICZ I., BACHELOT A., TOURAINE P., KUTTENN F.
Fertility in Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.
J. Clin. Endocrinol. Metabol., 95 (3), 1182-1190, 2010 ; (Facteur d'Impact 2006 : 6,325)
(Services cités : U845 (VG))
Objective: In contrast to subfertility often reported in women suffering from the classical form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, fertility in nonclassical CAH (NC-CAH) has been rarely studied. Our objective was to evaluate fertility in NC-CAH women. Material and Methods: We studied 190 NC-CAH women (161 probands + 29 first degree relatives). Only 20 probands had consulted for infertility (12%), either alone or associated with hirsutism or menstrual cycle disorders. The diagnosis was established on post-ACTH 17-hydroxyprogesterone 10 ng/ml or greater and further characterized by CYP21A2 gene analysis. Results: Ninety-five of the 190 women wanted pregnancy (aged 26.7 +/- 8.9 yr); 187 pregnancies occurred in 85 women, which resulted in 141 births in 82 of them. Ninety-nine pregnancies (52.9%) occurred before the diagnosis of NC-CAH (96 spontaneously and three with ovulation inducers) whereas 98 occurred after diagnosis (11 spontaneously and 77 with hydrocortisone treatment); 83% of pregnancies were obtained within 1 yr. The rate of miscarriages was 6.5% for pregnancies obtained with glucocorticoid treatment vs. 26.3% without. Two of the 141 infants (1.5%) were born with classical CAH. Conclusion: Subfertility is mild in NC-CAH. However, the rate of miscarriages is lower in pregnancies occurring with glucocorticoid treatment and argues for treating NC-CAH women wanting pregnancy. In addition, considering the high rate of heterozygotes for CYP21A2 mutations in the general population, it is essential to genotype the partner of patients with a severe mutation to predict the risk of classical CAH and offer genetic counseling.
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BROUTIN I., JOMAIN J.B., TALLET E., VAN AGTHOVEN J., RAYNAL B., HOOS S., KRAGELUND B.B., KELLY P.A., DUCRUIX A., ENGLAND P., GOFFIN V.
Crystal structure of an affinity-matured prolactin complexed to its dimerized receptor reveals the topology of hormone binding site 2.
J. Biol. Chem., 285 (11), 8422-8433, 2010 ; (Facteur d'Impact 2006 : 5,520)
(Services cités : U845 (VG))
We report the first crystal structure of a 1:2 hormone-receptor complex that involves prolactin (PRL) as the ligand, at 3.8 A resolution. Stable ternary complexes were obtained by generating affinity-matured PRL variants harboring an N-terminal tail from ovine placental lactogen, a closely-related PRL receptor (PRLR) ligand. This structure allows to draw up an exhaustive inventory of the residues involved at PRL/PRLR site 2 interface, consistent with all previously reported site-directed mutagenesis data. This description allows to propose an interaction model involving three structural components of PRL site 2 ("three pin plug"): the conserved glycine 129 of helix alpha3, the hydrogen bond network involving surrounding residues (glycine cavity), and the N-terminus. The model provides a molecular basis for the properties of the different PRL analogs designed to date, including PRLR antagonists. Finally, comparison of our 1:2 PRL/PRLR2 structure with those of free PRL and its 1:1 complex indicates that the structure of PRL undergoes significant changes when binding the first, but not the second receptor. This suggests that the second PRLR moiety adapts to the 1:1 complex rather than the opposite. In conclusion, this structure will be a useful guiding tool for further investigations of the molecular mechanisms involved in PRLR dimerization and activation, as well as for the optimization of PRLR antagonists, an emerging class of compounds with high therapeutic potential against breast and prostate cancer.
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CAVAZZANA-CALVO M., HACEIN-BEY A.S., FISCHER A.
Ten years of gene therapy: thoughts and perspectives.
M S-Méd. Sci., 26 (2), 115-118, 2010 ; (Facteur d'Impact 2006 : 0,590)
(Services cités : Biothérapie, CIC-BT, Immunologie-Hématologie Pédiatriques, U768)
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CHAPPERT P., LEBOEUF M., RAMEAU P., LALFER M., DESBOIS S., LIBLAU R.S., DANOS O., DAVOUST J.M., GROSS D.A.
Antigen-specific Treg impair CD8(+) T-cell priming by blocking early T-cell expansion.
Eur. J. Immunol., 40 (2), 339-350, 2010 ; (Facteur d'Impact 2006 : 4,865)
(Services cités : U1013, U781)
Foxp3(+) Treg are crucial for the maintenance of self-tolerance and have been shown to control CD8(+) T-cell effector functions. In addition, Treg are thought to control the priming of CD8(+) T cells, which recognize the same antigens as Treg. Taking advantage of our model of peripheral tolerance induction to influenza hemagglutinin (HA) after HA gene transfer, we found that HA-specific Treg suppress antigen-linked CTL responses through early blockade of CD8(+) T-cell expansion. Confronted with their cognate antigen, Treg expand more rapidly than CD8(+) T cells and are highly suppressive only during the initial stages of immune priming. They nullify HA-specific CD8(+) T-cell responses, local inflammatory responses and rejection of HA transduced cells. When HA gene transfer is performed with extensive tissue inflammation, HA-specific Treg are less effective but still reduce the frequency of newly primed HA-specific CD8(+) T cells and the ensuing frequency of memory CD8(+) T cells. Our results demonstrate that Treg control CTL priming in an antigen-specific manner at the level of T-cell expansion, highlighting how self-reactive Treg could prevent the induction of autoimmune responses through selective blockade of autoreactive T-cell proliferation.
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CHIPAUX M., VILLENEUVE N., SABOURAUD P., DESGUERRE I., BODDAERT N., DEPIENNE C., CHIRON C., DULAC O., NABBOUT R.
Unusual consequences of status epilepticus in Dravet syndrome.
Seizure - Eur. J. Epilep., 19 (3), 190-194, 2010 ; (Facteur d'Impact 2006 : 2,179)
(Services cités : Neurologie, Radiologie Pédiatrique, U663)
Although status epilepticus (SE) affects the course of Dravet syndrome (DS), it rarely alters dramatically psychomotor outcome. We report an unusual pattern in 3 patients who following refractory SE lasting respectively 2, 7 and 12h experienced persistent and severe cognitive and motor deterioration. We compared these patients to published data and to personal experience in Necker hospital, to find links between severe outcome and clinical features such as treatment or duration of refractory SE. The key point was that anoxoischemic-like lesions appeared on MRI although cardiovascular function had remained stable. Therefore, neither hemodynamic failure, nor abnormalities of cardiac rhythm could explain the lesions and neurological worsening. For theoretical reasons the responsibility of therapy common for the 3 patients, e.g., barbiturates was suspected.
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DIAMOND B., CUNNINGHAM-RUNDLES C., FISCHER A., GEHA R., NOTARANGELO L., OCHS H., ROTROSEN D., TERHORST C.
Josiah F. Wedgwood (1950-2009).
J. Allergy Clin. Immunol., 125 (2), 506, 2010 ; (Facteur d'Impact 2006 : 9,773)
(Services cités : Immunologie-Hématologie Pédiatriques)
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EL GHOUL B., SQUALLI T., SERVAIS A., ELIE C., MEAS-YEDID V., TRIVINT C., VANMASSENHOVE J., GRUNFELD J.P., OLIVO-MARIN J.C., THERVET E., NOEL L.H., PRIE D., FAKHOURI F.
Urinary procollagen III aminoterminal propeptide (PIIINP): a fibrotest for the nephrologist.
Clin. J. Amer. Soc. Nephrol., 5 (2), 205-210, 2010 ; (Facteur d'Impact 2006 : 4,361)
(Services cités : Biostatistique, Explorations Fonctionnelles, Néphrologie Adulte, U845 (FT))
BACKGROUND AND OBJECTIVES: Kidney biopsy (KB), to date the only tool for the evaluation of renal fibrosis, carries specific risks, and its relevance is limited by the small size of renal parenchyma assessed. Thus, a noninvasive alternative to KB is required. Collagen type III amino-terminal propeptide (PIIINP) is a degradation product of collagen type III, the increase of which may reflect an ongoing fibrotic process. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: In a prospective study including 199 patients with various stages of chronic kidney disease (CKD), the association between urinary PIIINP/creatinine ratio (UPIIINP/Cr), patients' characteristics, and renal fibrosis was assessed. RESULTS: A total of 118 of the patients had UPIIINP/Cr measured simultaneously with the performance of a KB. In patients, median UPIIINP/Cr was 290 ng/mmol versus 93.7 ng/mmol in controls. In univariate analysis, UPIIINP/Cr was correlated with serum creatinine, estimated GFR, CKD stage, presence of coronary artery disease, and nephropathy type (glomerulonephritis versus other types). In multivariate analysis, only estimated GFR and nephropathy type were correlated with UPIIINP/Cr. UPIIINP/Cr was closely correlated with the extent of interstitial fibrosis in KB assessed using two different methods. Moreover, UPIIINP/Cr >800 ng/mmol had a negative predictive value of 94% to detect patients in whom KB will eventually prove "noninformative" (KB leading neither to a definite diagnosis of nephropathy nor to specific treatment). CONCLUSIONS: UPIIINP/Cr is a promising fibro-test for the kidney and may alleviate the need for KB in some patients with CKD. Its predictive value for CKD progression deserves evaluation in prospective studies.

GUIHOT A., TUBIANA R., BRETON G., MARCELIN A.G., SAMRI A., ASSOUMOU L., GONCALVES E., BRICAIRE F., COSTAGLIOLA D., CALVEZ V., ROUZIOUX C., AUTRAN B., KATLAMA C., CARCELAIN G.
Immune and virological benefits of 10 years of permanent viral control with antiretroviral therapy.
AIDS, 24 (4), 614-617, 2010 ; (Facteur d'Impact 2006 : 5,460)
(Services cités : Laboratoire de Microbiologie, EA 3620)
The effects of a 10-year control of HIV replication without viral blips with antiretroviral therapy were examined in progressors. CD4 cell counts did not plateau but showed a continuous increase until the 10th year. Ultrasensitive techniques showed very low plasma HIV RNA and cell-associated DNA levels. Robust memory T cell responses to HIV-p24 were higher than in 3-year treated patients and comparable to those of Elite controllers, whereas interferon-gamma-producing HIV-specific T cells were infrequent. Long-term and efficient antiretroviral therapy provides continuous benefits both on the immune system and on the HIV reservoirs.
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HERVIER B., LATOUR S., LOUSSOUARN D., RIMBERT M., de SAINT-BASILE G., PICARD C., HAMIDOU M.
An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma.
J. Neuroimmunol., 218 (1-2), 125-128, 2010 ; (Facteur d'Impact 2006 : 3,159)
(Services cités : U768)
X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency, partially characterized by a defect in cytotoxicity to Epstein-Barr virus. This viral infection is therefore often fatal in affected boys, whilst a variety of immune disorders or proliferative diseases may occur in surviving patients. We report an atypical case of a 41year-old male who presented with a primitive B-cell cerebral lymphoma, revealing an XLP. This presentation was unusual because of its late onset, the broad spectrum of the familial characteristics, its initial presentation as a cerebral lymphoma, and the occurrence of B-cell alymphocytosis associated with a-gamma-globulinemia.
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HOVNANIAN A.
Modifier genes in pseudoxanthoma elasticum: novel insights from the Ggcx mouse model.
J. Mol. Med., 88 (2), 149-153, 2010 ; (Facteur d'Impact 2006 : 4,370)
(Services cités : Centre de Génétique Médicale Jean Frézal)
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SARZI E., ROTIG A.
Mitochondrial genome instability and associated diseases.
M S-Méd. Sci., 26 (2), 171-176, 2010 ; (Facteur d'Impact 2006 : 0,590)
(Services cités : U781)
Some cases of mitochondrial diseases are due to mitochondrial DNA instability: multiple deletions or depletions. These anomalies are responsible for a mitochondrial respiratory chain impairment leading to various clinical involvements ranging from mild features with multiple mtDNA deletions to severe organ failure and premature death caused by mtDNA depletions. Both, deletions and depletions share an important and common feature between these two specificities: indeed, both are expressed in a tissue-specific manner.
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SUAREZ F., PUGET S., BEAUDET R., GOULAMHOUSSEN N., HERMINE O.
Patient support for primary immunodeficiency with hypogammaglobulinemia and intravenous immunoglobulin substitution: Result of a national survey.
Presse Médicale, 39 (3), e45-e51, 2010 ; (Facteur d'Impact 2006 : 0,593)
(Services cités : Hématologie Adulte, UMR 8147)
INTRODUCTION: Primary Immunodeficiencies (PIDs) represent a heterogeneous group of rare diseases characterized by increased susceptibility to infections, often accompanied by a diverse immuno-pathological manifestations (autoimmunity, inflammation, benign or malignant lymphoproliferative disorders). The precise prevalence of PIDs in France is not known but is estimated to represent approximately 5 000 patients. METHODS: To better understand the situation of PID in France and gain an insight as to the care of these patients, we conducted a national survey by sending a questionnaire to physicians potentially involved in the care of PID patients. RESULTS: The majority of physicians follow only a few PID patients but the diagnostic and therapeutic attitudes are generally satisfactory. DISCUSSION: These results underscore the need to coordinate the care of PID patients in France as part of national networks. The approach adopted by the CEREDIH (French reference center for hereditary immune deficiencies) and DEF-I french national cohort identifying patients with DIP, will optimize the management of PID by defining diagnostic and therapeutic guidelines. In addition, these networks will provide valuable data regarding the incidence of PID and their complications.
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TOUNIAN A., AGGOUN Y., LACORTE J.M., DUBERN B., CLEMENT K., BONNET D., TOUNIAN P.
Influence of polymorphisms in candidate genes on early vascular alterations in obese children.
Arch. Cardiovasc. Dis., 103 (1), 10-18, 2010 ; (Facteur d'Impact 2006 : X)
(Services cités : Cardiologie Pédiatrique)
BACKGROUND: Many studies performed in adults have reported the involvement of genetic determinants in vascular alterations that predispose to cardiovascular diseases later in life. To date, no study has assessed the co-involvement of gene polymorphisms as cardiovascular risk factors in children. AIMS: To search for variants involved in early vascular alterations in obese children. METHODS: In 232 obese children, we performed an association study between variables related to endothelial function or arterial mechanical properties and functional variants reported to predispose towards vascular alterations in adults. Candidate polymorphisms were selected in genes involved in the renin-angiotensin system, vascular endothelial cell remodelling and communication, arterial inflammation, adiponectin production and lipoprotein metabolism. Non-invasive arterial measurements were performed to evaluate the mechanical characteristics of the common carotid artery and the endothelial function of the brachial artery. RESULTS: We found no association between the polymorphisms studied, taken alone or in combination with the arterial variables measured. CONCLUSION: Our hypothesis predicting that the tested genetic variants, which are involved in adult cardiovascular diseases, may influence the susceptibility to early vascular alterations in obese children was not validated. Thus, obesity-associated metabolic complications appear to remain the main predictors of arterial alterations in obese children.
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WILLEMS L., SUAREZ F., MESSAS E., BAUBION N., DECAUDIN D., FOURQUET A., GHEZ D., DELARUE R., HERMINE O., BUZYN A., VARET B., RUBIO M.T.
High risk of cardiac dysfunction after treatment of secondary acute myeloid leukemia following chemotherapy and radiotherapy for breast cancer.
Bull. Cancer, 97 (2), 245-254, 2010 ; (Facteur d'Impact 2006 : 1,094)
(Services cités : Cardiologie Adulte, Hématologie Adulte)
Secondary acute myeloid leukaemia (AML) occurring after breast cancer is a rare long-term complication of the chemo- and/or radiation therapy required to treat breast cancer. The usually recognized curative option of these secondary AML includes courses of anthracycline-based chemotherapy followed by haematopoietic stem cell transplantation (HSCT). Cardiac dysfunction during AML treatment of these patients previously treated with anthracyclines for breast cancer has not been reported to date. We evaluated the evolution of cardiac function in seven patients treated with anthracyclines and/or autologous or allogeneic bone marrow transplantation for secondary AML occurring after breast cancer. All of the patients who received a cumulative anthracycline dose above the cardiac toxicity threshold developed cardiac symptoms during AML chemotherapy courses. Moreover, four of the five transplanted patients developed severe heart failure among which two were fatal. Thus, the risk of severe cardiac dysfunction after treatment of secondary AML following breast cancer must be taken in account as part of the therapeutic strategy of those patients. As discussed here, an accurate evaluation of risk factors, the use of sensitive detection tests and of cardioprotective drugs as well as that of non-cardiotoxic chemotherapy might decrease the occurrence and severity of this life-threatening complication.
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