Publications by authors named "Marie Piketty"

7 Publications

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Cherubism as a systemic skeletal disease: evidence from an aggressive case.

BMC Musculoskelet Disord 2020 Aug 21;21(1):564. Epub 2020 Aug 21.

Laboratoire de Physiopathologie Orale Moléculaire, INSERM UMRS 1138, Equipe 5, Centre de Recherche de Cordeliers, 75006, Paris, France.

Background: Cherubism is a rare autosomal dominant genetic condition caused by mutations in the SH3BP2 gene. This disease is characterized by osteolysis of the jaws, with the bone replaced by soft tissue rich in fibroblasts and multinuclear giant cells. SH3BP2 is a ubiquitous adaptor protein yet the consequences of SH3BP2 mutation have so far been described as impacting only face. Cherubism mouse models have been generated and unlike human patients, the knock-in mice exhibit systemic bone loss together with a systemic inflammation.

Case Presentation: In light of these observations, we decided to search for a systemic cherubism phenotype in a 6-year-old girl with an aggressive cherubism. We report here the first case of cherubism with systemic manifestations. Bone densitometry showed low overall bone density (total body Z-score = - 4.6 SD). Several markers of bone remodelling (CTx, BALP, P1NP) as well as inflammation (TNFα and IL-1) were elevated. A causative second-site mutation in other genes known to influence bone density was ruled out by sequencing a panel of such genes.

Conclusions: If this systemic skeletal cherubism phenotype should be confirmed, it would simplify the treatment of severe cherubism patients and allay reservations about applying a systemic treatment such as those recently published (tacrolimus or imatinib) to a disease heretofore believed to be localised to the jaws.
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http://dx.doi.org/10.1186/s12891-020-03580-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441549PMC
August 2020

Hyperparathyroidism in Patients With X-Linked Hypophosphatemia.

J Bone Miner Res 2020 07 27;35(7):1263-1273. Epub 2020 Mar 27.

Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Filière OSCAR, Assistance Publique-Hôpitaux de Paris (AP-HP), Le Kremlin-Bicêtre, France.

X-linked hypophosphatemia (XLH) is characterized by increased activity of circulating FGF23 resulting in renal phosphate wasting and abnormal bone mineralization. Hyperparathyroidism may develop in XLH patients; however, its prevalence, pathogenesis, and clinical presentation are not documented. This observational study (CNIL 171036 v 0) recruited XLH adult patients in a single tertiary referral center. Each patient was explored in standardized conditions and compared with two healthy volunteers, matched for sex, age, and 25-OH vitamin D concentrations. The primary endpoint was the proportion of patients with hyperparathyroidism. The secondary endpoints were the factors influencing serum parathyroid hormone (PTH) concentrations and the prevalence of hypercalcemic hyperparathyroidism. Sixty-eight patients (51 women, 17 men) were enrolled and matched with 136 healthy volunteers. Patients had higher PTH concentrations compared with healthy controls (53.5 ng/L, interquartile range [IQR] 36.7-72.7 versus 36.0 ng/L, IQR 27.7-44.0, p < .0001). Hyperparathyroidism was observed in 17 patients of 68 (25%). In patients, a positive relationship between PTH and calcium concentrations and a negative relationship between PTH and phosphate concentrations were observed. Seven (10%) patients (3 premenopausal women, 1 postmenopausal woman, and 3 men) were diagnosed with hypercalcemic hyperparathyroidism. All underwent parathyroid surgery, with consecutive normalization of calcium and PTH concentrations. Hyperparathyroidism is a frequent complication in XLH adult patients. Disruption of the physiological regulation of PTH secretion contributes to parathyroid disease. Early-onset hypercalcemic hyperparathyroidism can be effectively and safely cured by surgical resection. © 2020 American Society for Bone and Mineral Research.
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http://dx.doi.org/10.1002/jbmr.3992DOI Listing
July 2020

Periostin and sclerostin levels in individuals with spinal cord injury and their relationship with bone mass, bone turnover, fracture and osteoporosis status.

Bone 2019 10 24;127:612-619. Epub 2019 Jul 24.

Centre de Rééducation et Réadaptation Fonctionnelle La Châtaigneraie, Menucourt, France.

Background: Spinal cord injury (SCI) induces an acute alteration in bone metabolism. Although the aetiology of the bone disturbances is not precisely known, immobilisation reduces mechanical loading and the morphology of osteocytes, which are the primary mechanosensors. Periostin and sclerostin are secreted mostly by osteocytes and are involved in bone's mechanical response.

Objective: The present study was conducted to determine whether individuals with SCI present alterations in serum periostin and sclerostin and to assess their relationships with bone mineral density, bone turnover markers, fracture status, time since injury, densitometric osteoporosis and paraplegic vs. tetraplegic status.

Subjects And Methods: One hundred and thirty-one individuals with SCI (96 males and 35 females; 42.8 ± 13.7 yr old) with a mean 14.2 ± 12.1 years since the time of injury were evaluated and compared with 40 able-bodied controls in a cross-sectional study. Periostin and sclerostin were assayed by ELISA from Biomedica® (Vienna, Austria), and bone turnover markers and areal bone mineral density (aBMD) were concomitantly analysed.

Results: Compared with controls, individuals with SCI presented higher periostin (p < 0.01), lower sclerostin (p < 0.001), similar markers of bone turnover levels and lower aBMD at the hip. Compared with chronic individuals, bone turnover markers, sclerostin excepted, values were higher as well as aBMD at hip in individuals with acute SCI. Moreover, the aBMD differences were more marked in tetraplegic than paraplegic individuals. Bone mineral density, fracture status, densitometric osteoporosis and paraplegia vs. tetraplegia did not seem to substantially influence the values of biological markers, sclerostin excepted.

Conclusion: This study showed for the first time that individuals with SCI presented higher periostin levels than healthy controls only during the acute phase. Conversely, sclerostin levels are lower whatever the post-injury time. Fractures and densitometric osteoporosis were not associated with differences in these two biological markers, whereas paraplegia vs. tetraplegia and fragility fracture status seemed to influence sclerostin levels only.
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http://dx.doi.org/10.1016/j.bone.2019.07.019DOI Listing
October 2019

Arterial Spin Labeling and Central Precocious Puberty.

Clin Neuroradiol 2020 Mar 5;30(1):137-144. Epub 2018 Nov 5.

Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de sèvres, 75015, Paris, France.

Purpose: To evaluate a non-invasive method to assess the progressivity of idiopathic central precocious puberty (CPP) by quantifying perfusion of the pituitary stalk with arterial spin labeling (ASL) and using the gonadotropin-releasing hormone (GnRH) test as a reference test to define progressive CPP.

Methods: In a single center retrospective study, 52 consecutive patients, observed between October 2015 and April 2017 and referred with early signs of puberty, were evaluated using the GnRH test and cerebral magnetic resonance imaging (MRI). Patients with peripheral or non-idiopathic puberty were excluded. The distribution of perfusion values between patients with progressive and non-progressive CPP was compared using a nonparametric Mann-Whitney U‑test.

Results: In this study 35 patients were included and 29 had progressive CPP. These patients displayed significantly higher cerebral blood flow (CBF) values than the 6 patients with non-progressive CPP (p = 0.006). The median CBF for patients with non-progressive and progressive CPP was 45.25 ml/min/100 g (interquartile range 36.9-54) vs. 65 ml/min/100 g (interquartile range 55.5-74.5), respectively. To determine if the CPP was progressive, the best CBF threshold was 55.5 ml/min/100 g with a sensitivity of 76%, a specificity of 83% and an accuracy of 77%. There were strong significant correlations between CBF and LH peak (r = 0.67, p < 0.001) and between CBF and LH/FSH peaks ratio [r = 0.71, p < 0.001] during the GnRH test.

Conclusion: Arterial spin labelling (ASL) offers a novel tool to assess the progressivity of idiopathic CPP.
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http://dx.doi.org/10.1007/s00062-018-0738-5DOI Listing
March 2020

Prevalence and predictors of early cardiovascular events after kidney transplantation: evaluation of pre-transplant cardiovascular work-up.

PLoS One 2015 24;10(6):e0131237. Epub 2015 Jun 24.

Department of Nephrology and Transplantation, Hôpital Necker Assistance Publique-Hôpitaux de Paris, Université Paris Descartes Sorbonne Paris Cité, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, RTRS « Centaure », Labex « Transplantex », Paris, France.

Introduction: Cardiovascular disease is the leading cause of mortality after renal transplantation. The purpose of this study was to analyze cardiovascular risk factors at transplantation, occurrence of cardiovascular events in the first year after transplantation and evaluate pre-transplant work-up.

Material And Method: In total, 244 renal transplant recipients older than 50 years were included. The results of pre-transplant work-up, including clinical evaluation, electrocardiogram, echocardiography, myocardial perfusion testing and coronary angiography were analyzed.

Results: Patients had multiple risk factors at inclusion on renal transplantation waiting list as high blood pressure (94.7%), dyslipidemia (81.1%), smoking (45.3%), diabetes (23.6%), past history of cardiovascular disease (21.3%) and obesity (12.7%). Following transplantation, 15.5% (n = 38) of patients experienced a cardiovascular event, including 2.8% (n = 7) acute coronary syndrome, 5.8% (n = 14) isolated increase in troponin level and 5.3% (n = 13) new onset atrial fibrillation. The pre-transplant parameters associated with a cardiovascular event were a past medical history of cardiovascular disease (HR = 2.06 [1.06-4.03], p = 0.03), echocardiographic left ventricular hypertrophy (HR = 2.04 [1.04-3.98], p = 0.037) and abnormal myocardial perfusion testing (HR = 2.25 [1.09 -5.96], p = 0.03). Pre-transplantation evaluation allowed the diagnosis of unknown coronary artery lesions in 8.9% of patients.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0131237PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481263PMC
April 2016

Inadequate cortisol response to the tetracosactide (Synacthen®) test in non-classic congenital adrenal hyperplasia: an exception to the rule?

Horm Res Paediatr 2015 7;83(4):262-7. Epub 2015 Feb 7.

Service d'Endocrinologie, Gynécologie et Diabétologie Pédiatriques, Hôpital Universitaire Necker-Enfants Malades, Paris, France.

Aims: To describe cortisol response to tetracosactide and to review the literature on adrenal function in non-classic congenital adrenal hyperplasia (NCCAH) patients.

Methods: We compared cortisol responses to tetracosactide (250 μg) between NCCAH patients and a comparison group (CG) of patients with premature pubarche and normal tetracosactide test. An adequate cortisol response was defined as a peak ≥18 μg/dl.

Results: We included 35 NCCAH patients (26 girls, 9 boys), whose mean age at testing was 7.0 years (0.8-15.6), and 47 patients in the CG (39 girls, 8 boys), whose mean age was 7.2 years (0.5-9.9). Baseline cortisol was significantly higher in the NCCAH group than in the CG [12.9 (4.3-22.2) vs. 9.7 (4.2-16.2) μg/dl, respectively; p = 0.0006]. NCCAH patients had lower cortisol peak response compared to the CG [18.2 (6.3-40) vs. 24.9 (12-30.3) μg/dl, respectively; p < 0.0001]. Peak cortisol was <18 μg/dl in 21/35 (60%) NCCAH patients versus 1/47 (2.1%) in the CG. No NCCAH patients had acute adrenal insufficiency, but 2 reported severe fatigue that improved with hydrocortisone.

Conclusions: The cortisol response to tetracosactide was inadequate (<18 μg/dl) in 60% of patients with NCCAH. Hydrocortisone therapy may deserve consideration when major stress (surgery, trauma, childbirth) or objectively documented fatigue occurs in NCCAH patients with inadequate cortisol response.
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http://dx.doi.org/10.1159/000369901DOI Listing
February 2016

Prevalence of pituitary dysfunction after severe traumatic brain injury in children and adolescents: a large prospective study.

J Clin Endocrinol Metab 2014 Jun 17;99(6):2052-60. Epub 2014 Mar 17.

Pediatric Endocrinology, Gynecology, and Diabetology Unit (C.P., H.C., I.F., Y.D., M.V., M.P.), Pediatric Anesthesiology Unit (P.M.), Radiology Unit (N.B., S.B.), Pediatric Neurosurgery Unit (C.M., S.P., C.S.-R.), Functional Explorations Unit (J.-C.S., M.P., K.L.), and Biostatistics Department (J.-P.J.), Assistance Publique-Hôpitaux de Paris, Hôpital Universitaire Necker Enfants-Malades, 75015 Paris, France; Rehabilitation Department for Children With Acquired Neurological Injury (M.C.), Hôpitaux de St Maurice, 94410 St Maurice, France; Université Paris Descartes (N.B., S.B., S.P., C.S.-R., M.P.), 75014 Paris, France; ER6-Université Pierre et Marie Curie, 75252 Paris, France (M.C.); and IMAGINE Affiliate (N.B., M.P.), 75015 Paris, France.

Context: Traumatic brain injury (TBI) in childhood is a major public health issue.

Objective: We sought to determine the prevalence of pituitary dysfunction in children and adolescents after severe TBI and to identify any potential predictive factors.

Design: This was a prospective longitudinal study.

Setting: The study was conducted at a university hospital.

Patients: Patients, hospitalized for severe accidental or inflicted TBI, were included. The endocrine assessment was performed between 6 and 18 months after the injury.

Main Outcome Measures: Basal and dynamic tests of pituitary function were performed in all patients and GH dynamic testing was repeated in patients with low stimulated GH peak (<7 ng/mL). The diagnosis of proven severe GH deficiency (GHD) was based on the association of two GH peaks less than 5 ng/mL on both occasions of testing and IGF-I levels below -2 SD score. Initial cranial tomography or magnetic resonance imaging was analyzed retrospectively.

Results: We studied 87 children and adolescents [60 males, median age 6.7 y (range 0.8-15.2)] 9.5 ± 3.4 months after the TBI (73 accidental, 14 inflicted). The second GH peak, assessed 4.9 ± 0.1 months after the first evaluation, remained low in 27 children and adolescents. Fifteen patients had a GH peak less than 5 ng/mL (mean IGF-I SD score -1.3 ± 1.5) and five (5.7%) strict criteria for severe GHD. Two children had mild central hypothyroidism and one had ACTH deficiency. We did not find any predictive factors associated with existence of GHD (demographic characteristics, growth velocity, trauma severity, and radiological parameters).

Conclusion: At 1 year after the severe TBI, pituitary dysfunction was found in 8% of our study sample. We recommend systematic hormonal assessment in children and adolescents 12 months after a severe TBI and prolonged clinical endocrine follow-up.
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http://dx.doi.org/10.1210/jc.2013-4129DOI Listing
June 2014