Rossi-Semerano L.,Hopital de Bicetre |
Rossi-Semerano L.,National Reference Center for Auto Inflammatory Diseases |
Piram M.,Hopital de Bicetre |
Chiaverini C.,Hopital Archet 2 |
And 3 more authors.
Pediatrics | Year: 2013
YM is the first son of Tunisian consanguineous parents who developed, at 2 weeks of life, an erythematous and scaly eruption, with subsequent rapid evolution toward generalized pustular psoriasis. Afterward, cutaneous flares of diffuse erythematous rash and pustules involving the whole body appeared, with a once weekly periodicity. Intense irritability was present during flares without fever. Moreover, since 1 month of age the infant presented with diarrhea, dysphagia, and reduced feeding rate, with failure to thrive. Laboratory tests during acute flares showed marked leukocytosis, thrombocytosis, and anemia without C-reactive protein elevation. Skin biopsy and clinical presentation were consistent with pustular psoriasis; nevertheless, the patient did not respond to high-potency topical corticosteroids and retinoid acid. As the patient presented with repeated skin flares early after birth, as well as serious constitutional distress with failure to thrive, an autoinflammatory syndrome like interleukine-1-receptor antagonist deficiency or interleukin-36-receptor antagonist deficiency (DITRA) was considered. The hypothesis was reinforced by parental consanguinity, and absence of skin lesion improvement under standard topical treatment. Genetic analyses showed a homozygous mutation in the IL36RN gene (L27P), which represents the same mutation recently described in DITRA patients. At age 6 months we started treatment with the recombinant interleukin-1 receptor antagonist anakinra with efficacy both on constitutional symptoms and skin involvement. DITRA is a recently described autoinflammatory disease characterized by repeated flares of generalized pustular psoriasis, high fever, asthenia, and systemic inflammation. We report herein the first exhaustive clinical description of an infant with DITRA who was successfully treated with anakinra. © 2013 by the American Academy of Pediatrics.
Monpeyssen H.,Hopital Necker |
Tramalloni J.,Hopital Necker |
Poiree S.,Hopital Necker |
Helenon O.,Hopital Necker |
Correas J.-M.,Hopital Necker
Diagnostic and Interventional Imaging | Year: 2013
Thyroid nodules are very common, while thyroid cancer is rare and has a very good prognosis. Thyroid nodule ultrasound characterization performed by experienced clinicians llows the selection of the tumours to be punctured and guiding fine needle aspiration (FNA). FNA provide cytology information able to differentiate benign tumours from cancer in approximately 80% of cases. However, it remains difficult to identify thyroid cancers with ultrasound imaging, as demonstrated by the very low rate of cancers detected in all of the carried out FNA (approximately 5%). As a majority of thyroid cancers are hard, the stiffness evaluation has become part of nodular characterization. Since 2005, elastography has been used for the evaluation of thyroid nodules; quasi-static elastography was the first technique available and used, at first, an external pressure induced by the probe, which was then replaced by carotid internal excitation allowing improvement in sensitivity. Semi-quantitative analysis allows comparison of tissue elasticities between tissue with elasticity anomalies and normal tissue and provides therefore useful analytic information. Shear wave elastography (SWE) provides a map of the elasticity in a region and allows stiffness quantification of lesions in kilopascals in order to reinforce the predictive value of malignancy. A tumour whose stiffness is greater than 65 kPa or for which the stiffness ratio is greater than 3.7 compared to surrounding healthy tissue is highly suspicious. SWE may enable the detection of malignant follicular tumours that currently escape detection by the ultrasound-guided ultrasound/aspiration cytology couple. Lymph node metastasis of papillary thyroid cancer can also be detected by elastography due to its increased stiffness. © 2013 Published by Elsevier Masson SAS on behalf of the Éditions françaises de radiologie.
Matteucci M.C.,Bambino Gesu Childrens Hospital |
Chinali M.,Bambino Gesu Childrens Hospital |
Rinelli G.,Bambino Gesu Childrens Hospital |
Wuhl E.,University of Heidelberg |
And 4 more authors.
Clinical Journal of the American Society of Nephrology | Year: 2013
Background and objectives Left ventricular hypertrophy (LVH) and abnormal systolic function are present in a high proportion of children with CKD. This study evaluated changes in left ventricular (LV) geometry and systolic function in children with mild to moderate CKD as an ancillary project of the Effect of Strict Blood Pressure Control and ACE Inhibition on Progression of Chronic Renal Failure in Pediatric Patients trial. Design, setting, participants, & measurements Echocardiograms and ambulatory BP monitoring were performed at baseline and at 1- or 2-year follow-up in 84 patients with CKD and 24-hour mean BP above the 50th percentile and/or receiving fixed high-dose angiotensin converting enzyme inhibition and randomized to conventional or intensified BP control. Results LVH prevalence decreased from 38% to 25% (P<0.05). Changes in LV mass index (LVMI) were restricted to patients with LVH at baseline (-7.9 g/m2.7; P<0.02). Changes in LVMI were independent of randomization, reduction in BP, hemoglobin, and estimated GFR. A significant increase in midwall fractional shortening was observed in the total cohort (P<0.05), and was greater in the intensified group compared with the conventional BP control group (12%±1.9% versus 8%±1.5%; P=0.05). In multivariate analysis, improvement in myocardial function was associated with reduction in BP (r=-0.4; P<0.05), independently of LVMI reduction. Conclusions In children with CKD, angiotensin converting enzyme inhibition with improved BP control, LVH regression, and improved systolic function was observed within 12 months. Lowering BP to the low-normal range led to a slightly more marked improvement in myocardial function but not in LVMI. © 2013 by the American Society of Nephrology.
Casasnovas R.-O.,Hematologie Clinique |
Meignan M.,Hopital Henri Mondor |
Berriolo-Riedinger A.,Center Georges Francois Leclerc |
Bardet S.,Center Francois Baclesse |
And 9 more authors.
Blood | Year: 2011
The prognostic value of interim positron emission tomography (PET) interpreted according to visual criteria is a matter of debate in diffuse large B-cell lymphoma (DLBCL). Maximal standardized uptake value reduction (ΔSUVmax) may better predict outcome. To compare the prognostic value of both methods, we analyzed PET done at baseline (PET0) and after 2 (PET2) and 4 (PET4) cycles in 85 patients with high-risk DLBCL enrolled on a prospective multicenter trial. All images were centrally reviewed and interpreted visually according to the International Harmonization Project criteria and by computing ΔSUVmax between PET0 and PET2 (ΔSUVmaxPET0-2) or PET4 (ΔSUVmaxPET0-4). Optimal cutoff to predict progression or death was 66% for ΔSUVmaxPET0-2 and 70% for ΔSUVmaxPET0-4. Outcomes did not differ significantly whether PET2 and PET4 were visually positive or negative. Inversely, ΔSUVmaxPET0-2 analysis (> 66% vs ≤ 66%) identified patients with significantly different 2-year progression-free survival (77% vs 57%; P = .0282) and overall survival (93% vs 60%; P < .0001). ΔSUVmaxPET0-4 analysis (> 70% vs ≤ 70%) seemed even more predictive for 2-year progression-free survival (83 vs 40%; P < .0001) and overall survival (94% vs 50%; P < .0001). ΔSUVmax analysis of sequential interim PET is feasible for highrisk DLBCL and better predicts outcome than visual analysis. The trial was registered at http://clinicaltrials.gov as NCT00498043. © 2011 by The American Society of Hematology.
Saadoun D.,Groupe Hospitalier Pitie Salpetriere |
Pineton De Chambrun M.,University Pierre and Marie Curie |
Hermine O.,Groupe Hospitalier Pitie Salpetriere |
Karras A.,Hopital Necker |
And 4 more authors.
Arthritis Care and Research | Year: 2013
Objective Treatment of refractory mixed cryoglobulinemia (MC) with severe organ involvement remains challenging. Fludarabine, cyclophosphamide, and rituximab (FCR) treatment is highly effective for patients with chronic lymphocytic leukemia and marginal-zone lymphoma. We first report the safety and efficacy of FCR treatment in severe and refractory MC vasculitis associated with lymphoma. Methods We report the safety and efficacy of fludarabine (40 mg/m2 orally on days 2-4), cyclophosphamide (250 mg/m2 orally on days 2-4), and rituximab (375 mg/m2 on day 1), every 4 weeks, for 3 to 6 cycles in 7 consecutive patients with severe and refractory MC. Results Clinical features of MC included purpura (n = 7), polyneuropathy (n = 6), and kidney (n = 4) and cardiac involvement (n = 2). Previous treatment included rituximab (n = 5), corticosteroids (n = 5), antiviral therapy (n = 5), cyclophosphamide (n = 3), and plasmapheresis (n = 2). All patients achieved clinical response, with 3 patients (42.9%) achieving a complete remission and 4 patients (57.1%) a partial remission. Cryoglobulin decreased from 0.94 to 0.41 gm/liter (P = 0.015). After a followup of 27 months, 2 patients experienced a relapse of MC. Five patients (71.4%) experienced side effects, including cytopenia (n = 5), pneumopathy (n = 2), and serum sickness (n = 1). Conclusion The FCR regimen represents an effective treatment in severe and refractory MC. Copyright © 2013 by the American College of Rheumatology.
Torres P.A.U.,Clinique du Landy |
De Brauwere D.P.,Hopital Necker
Kidney International | Year: 2011
Parathyroid hormone (PTH) and vitamin D were considered the major factors regulating phosphate homeostasis. Now, with the identification of fibroblast growth factor 23 (FGF23), a phosphaturic molecule inhibiting calcitriol and PTH, they need to be integrated into three feedback loops involving parathyroid, bone, and kidney. PTH and calcitriol are required for the appropriate synthesis of FGF23 by bone cells. PTH also regulates klotho expression in the kidney and thereby the phosphaturic action of FGF23. © 2011 International Society of Nephrology.
De Leersnyder H.,Hopital Necker
Medecine Therapeutique Pediatrie | Year: 2013
Sleep disorders occur in over 75% of children with neurodevelopmental disability. Such disturbances interfere with the child's behaviour during the day and may disturb parents' sleep for long periods. An organic cause (gastro-oesophagal reflux disease, epilepsy, etc) may be eliminated in specialised centres for sleep disorders. Sleep disorders per se result in circadian sleep disorder, difficulty in falling asleep, and/or waking up during the night. In order to improve habits and lifestyle associated with sleep, treatment should first take into account environmental factors (light-dark cycle, diet, bedtime and waking time, and social patterns). The severity of disorders and their impact on thewhole family's sleep often justifies a combined treatment approach using medication and behavioural measures. The use of melatonin has transformed the therapeutic treatment of sleep disorders in children with disabilities. Melatonin may be administered as fast or slow release and exhibits few side effects. Other sedative treatments have a more transient effect and often result in addiction.
Robinson S.,University of Bristol |
Dreger P.,University of Heidelberg |
Caballero D.,Hospital Clinico Servicio Of Hematologica |
Corradini P.,University of Milan |
And 8 more authors.
Leukemia | Year: 2015
The role of both autologous (autoSCT) and allogeneic stem cell transplantation (alloSCT) in the management of mantle cell lymphoma (MCL) remains to be clarified. We conducted a consensus project using the RAND-modified Delphi consensus procedure to provide guidance on how SCT should be used in MCL. With regard to autoSCT, there was consensus in support of: autoSCT is the standard first-line consolidation therapy; induction therapy should include high-dose cytarabine and Rituximab; complete or partial remission should be achieved before autoSCT; Rituximab maintenance following autoSCT is not indicated; and omission of autoSCT in 'low-risk' patients is not indicated. No consensus could be reached regarding: autoSCT in the treatment of relapsed disease following non-transplant therapy; the value of positron emission tomography scanning and minimal residual disease (MRD) monitoring; in vivo purging with Rituximab; total body irradiation conditioning for autoSCT; and preemptive Rituximab after autoSCT. For alloSCT, consensus was reached in support of: alloSCT should be considered for patients relapsing after autoSCT; reduced intensity conditioning regimens should be used; allogeneic immunotherapy should be used for MRD eradication after alloSCT; and there is a lack of prognostic criteria to guide the use of alloSCT as first-line consolidation. No consensus was reached regarding the role of alloSCT for relapsed disease following non-transplant therapy. © 2015 Macmillan Publishers Limited All rights reserved
Savage M.O.,William Harvey Research Institute |
Simon D.,Hopital Robert Debre |
Czernichow P.C.,Hopital Necker
Endocrine Development | Year: 2011
Growth failure is common in paediatric disorders associated with inflammation and nutritional deficiency. Examples are Crohn's disease (CD), juvenile idiopathic arthritis (JIA) and cystic fibrosis. Several factors contribute to the abnormal growth, notably excess pro-inflammatory cytokine production and nutritional deficiency, both of which can disturb the GH-IGF-I axis. Typically, growth hormone (GH) secretion is normal, whereas IGF-I production is compromised. Against this background of a disturbed IGF system, glucorticoid therapy, particularly in JIA, and to some extent in CD is frequently initiated to suppress inflammation and provide symptomatic relief. The availability of GH therapyand its efficacy in non-GH-deficient disorders has led to a number of trials in children withglucocorticoid-dependent diseases. In JIA, GH in pharmacological dosages of 0.066 and 0.047 mg/kg/day was effective in preventing the rapid decrease in height SDS values in the acute phase of thedisease and in increasing adult height after long-term therapy respectively. In CD, fewer children aresteroid-dependent because of widespread use of enteral nutrition, non-steroidal immunosuppressive agents and anti-tumour necrosis factor therapy. However, two trials of GH, using similar doses to those above, have demonstrated anabolic effects with increase in height velocity, bone mineral density and fat free mass compared to untreated controls. Collaboration between paediatric endocrinologists and other subspecialists will improve the opportunity for successful GH therapy. Treatmentshould be initiated before or during early puberty. Copyright © 2011 S. Karger AG, Basel.
Frimat L.,Nancy University Hospital Center |
Mariat C.,Dialysis and Renal Transplant |
Landais P.,Hopital Necker |
Kone S.,Hoffmann-La Roche |
And 2 more authors.
BMJ Open | Year: 2013
Objective: The aim of this study was to describe the management of anaemia with a continuous erythropoietin receptor activator (C.E.R.A., methoxy polyethylene glycol epoetin-ß), in patients with chronic kidney disease (CKD) not on dialysis, naïve or nonnaïve to treatment with erythropoiesis-stimulating agents (ESAs) at inclusion. Design: National, multicentre, longitudinal, observational prospective study. Setting: 133 nephrologists practicing in France selected patients during their routine follow-up visits. The study was non-interventional. Participants: They were adult CKD patients not on dialysis or kidney transplant patients, naïve or not to ESA treatment: 524 patients not on dialysis (48% ESA-naïve) and 92 kidney transplant patients (24% ESA-naïve) were included and followed up every 3 months during 1 year. Outcome measures: The two main endpoints were the percentage of patients who achieved target haemoglobin (Hb) levels as per European Medicines Agency guidelines (10-12 g/dl) around 6 months of treatment and modalities of treatment. Results: Approximately one in two patients had an Hb level within 10-12 g/dl at baseline, and around 6 and 12 months of treatment. Ninety per cent of ESA-naïve patients achieved at least +1 g/dl increase over baseline Hb levels or had Hb within 10-12 g/dl around 6 and 12 months. The Hb level remained at approximately 11.5 g/dl during the 12 months of follow-up. Around 6 months: almost all patients were receiving a oncemonthly subcutaneous dose of C.E.R.A. (patients not on dialysis: 95±54 μg; kidney transplant patients: 121±70 μg); approximately half the patients did not require a change in C.E.R.A. dose. Adverse effects related to C.E.R.A. were observed in less than 5% of patients and led to modification or discontinuation of treatment in 2%. Conclusions: The efficacy and safety of C.E.R.A. in CKD patients not on dialysis, with or without kidney transplantation, were confirmed in routine clinical practice.