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Stoupa A.,Necker Childrens University Hospital | Samara-Boustani D.,Necker Childrens University Hospital | Flechtner I.,Necker Childrens University Hospital | Pinto G.,Necker Childrens University Hospital | And 18 more authors.
Hormone Research in Paediatrics | Year: 2017

Background: Early postnatal administration of gonadotropins to infants with congenital hypogonadotropic hypogonadism (CHH) can mimic minipuberty, thereby increasing penile growth. We assessed the effects of gonadotropin infusion on stretched penile length (SPL) and hormone levels in infants with congenital micropenis. Methods: Single-center study including 6 males with micropenis in case of isolated CHH (n = 4), panhypopituitarism (n = 1), and partial androgen insensitivity syndrome (PAIS; n = 1). Patients were evaluated at baseline, monthly and at the end of the study through a clinical examination (SPL, testicular position and size), serum hormone assays (testosterone, luteinizing hormone, follicle-stimulating hormone, inhibin B, anti-Müllerian hormone [AMH]), and ultrasound of penis/testes. Results: In CHH, significant increases occurred in serum testosterone (from undetectable level to 3.5 ± 4.06 ng/mL [12.15 ± 14.09 nmol/L]), SPL (from 13.8 ± 4.5 to 42.6 ± 5 mm; p < 0.0001), inhibin B (from 94.8 ± 74.9 to 469.4 ± 282.5 pg/mL, p = 0.04), and AMH (from 49.6 ± 30.6 to 142 ± 76.5 ng/mL, p = 0.03). Micropenis was corrected in all patients, except one. On treatment, in the patient with PAIS, SPL was increased from 13 to 38 mm. Conclusions: Early gonadotropin infusion is a safe, well-Tolerated and effective treatment. The effect in PAIS has not been reported previously. Long-Term follow-up is needed to assess the impact, if any, on future fertility and reproduction. © 2017 S. Karger AG, Basel.

Clement M.C.,Hotel Dieu Hospital | Mahlaoui N.,Necker Enfants Malades University Hospital | Mahlaoui N.,French Institute of Health and Medical Research | Mahlaoui N.,University of Paris Descartes | And 19 more authors.
Journal of Allergy and Clinical Immunology | Year: 2015

Background: The inclusion of severe combined immunodeficiency (SCID) in a Europe-wide screening program is currently debated. Objective: In making a case for inclusion in the French newborn screening program, we explored the costs incurred and potentially saved by early management of SCID. Methods: For test costs, a microcosting study documented the resources used in a laboratory piloting a newborn screening test on Guthrie cards using the T-cell receptor excision circle quantification method. For treatment costs, patients with SCID admitted to the national reference center for primary immunodeficiency in France between 2006 and 2010 were included. Costs of admission were estimated from actual national production costs. We estimated the costs for patients who underwent early versus delayed hematopoietic stem cell transplantation (HSCT; age, ≤3 vs >3 months, respectively). Results: The unit cost of the test varied between €4.69 and €6.79 for 33,800 samples per year, depending on equipment use and saturation. Of the 30 patients included, 27 underwent HSCT after age 3 months. At 1 year after HSCT, 10 of these had died, and all 3 patients undergoing early transplantation survived. The medical costs for HSCT after 3 months were €195,776 (interquartile range, €165,884-€257,160) versus €86,179 (range, €59,014-€272,577) when performed before 3 months of age. In patients undergoing late transplantation, active infection contributed to high cost and poor outcome. Conclusion: Early detection of SCID could reduce the cost of treatment by €50,000-100,000 per case. Assuming a €5 unit cost per test, the incidence required to break even is 1:20,000; however, if the survival advantage of HSCT before 3 months isconfirmed, universal screening is likely to be cost-effective. © 2015 American Academy of Allergy, Asthma & Immunology.

Viallard M.L.,University of Paris Descartes | Viallard M.L.,Necker Childrens University Hospital
Culture, Medicine and Psychiatry | Year: 2014

Specificities of situation of individuals with multiple disabilities and pediatric neurological pathologies call for specialized and multi-field competences that are commonly allowed and disallowed in contemporary clinical contexts. However what must be questioned in this matter is not only the meaning of the clinical, social, and human approach that is implemented, but also its spirit. The aim of medicine is double: to offer a technoscientific capacity (to cure as much as it is possible and always relieve suffering) and guarantee the meaning and value of the child's human and social capacities. We suggest the importance of a medicine always as care-giving whose aim(s) can be either curative or palliative, or even both at the same time with possibilities for moving back and forth between each one, is easily understandable by all professional groups and patients. It is not at the time of the death, at the last moments, that we will be able to introduce what could have given meaning, spirit and comfort in life. It is very early in the life, in the approach of care, to precisely preserve a meaning of life and to take adapted and shared care as a precious tool that we will propose to the patients, to the parents, and to the professionals. Palliative medicine can support a caring and human approach that takes account of the handicapped child's vulnerabilities not only at the end of his life, but throughout his/her life. The palliative approach and reasoning approach requires a specific, adapted training and the development of shared knowledge. Without giving up the indisputable contributions of the Evidence-Based Medicine (EBM), it is necessary to develop, in a scientific way, what we could call Human-Based Medicine (HBM). © 2013 Springer Science+Business Media New York.

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