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Le Touquet – Paris-Plage, France

Loibl S.,German Breast Group | Schmidt A.,University Hospital Jena | Gentilini O.,Italian National Cancer Institute | Kaufman B.,Chaim Sheba Medical Center | And 11 more authors.
JAMA oncology | Year: 2015

Breast cancer during pregnancy (BCP), although rare, is becoming more common and treatment should be as similar as possible to that for nonpregnant young patients with breast cancer. A group of specialists convened to review current guidelines and provide guidance on how recent advances in breast cancer diagnosis and treatment can be adapted for pregnant patients. The majority of patients with BCP will be considered for treatment during the pregnancy. Premature delivery should be avoided whenever possible. Most treatments, including sentinel lymph node biopsy, systemic therapy with taxanes, platinum agents, or dose-dense treatment can be safely given during pregnancy, after careful risk/benefit assessment for mother and child. Chemotherapy is contraindicated during the first trimester because of a higher risk of fetal malformations but is feasible in the second and third trimesters. Other treatments such as radiation therapy or anti-human epidermal growth receptor 2 treatment are in general not indicated during pregnancy but might be considered in some instances. Patient data should be collected in a systematic way whenever possible. Source


Dror Y.,University of Toronto | Donadieu J.,Trousseau Hospital | Koglmeier J.,Great Ormond Street Hospital and Institute of Child Health | Dodge J.,University of Swansea | And 12 more authors.
Annals of the New York Academy of Sciences | Year: 2011

Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency and bone marrow failure, often associated with neurodevelopmental and skeletal abnormalities. Mutations in theSBDSgene have been shown to cause SDS. The purpose of this document is to provide draft guidelines for diagnosis, evaluation of organ and system abnormalities, and treatment of hematologic, pancreatic, dietary, dental, skeletal, and neurodevelopmental complications. New recommendations regarding diagnosis and management are presented, reflecting advances in understanding the genetic basis and clinical manifestations of the disease based on the consensus of experienced clinicians from Canada, Europe, and the United States. Whenever possible, evidence-based conclusions are made, but as with other rare diseases, the data on SDS are often anecdotal. The authors welcome comments from readers. © 2011 New York Academy of Sciences. Source


Cassuto N.G.,ART Unit | Hazout A.,ART Unit | Bouret D.,ART Unit | Balet R.,Bleuets Hospital | And 3 more authors.
Reproductive BioMedicine Online | Year: 2014

Consistent evidence from meta-analysis has linked assisted conception by IVF, and particularly intracytoplasmic sperm injection (ICSI), with an increased risk of major birth defects. To compare the risk of major malformations of children born after standard ICSI and after intracytoplasmic injection of morphologically selected spermatozoa (IMSI), a prospective population-based study was conducted from 2005 to 2010. ICSI and IMSI were performed in only one assisted reproduction unit according to its classification of spermatozoa and using fresh semen. Medical data and follow up during 2 years of 1028 infants were collected. Major malformations were identified and classified by an external independent physician. The two groups were similar concerning the parents' age, treatment, number of oocytes recovered, days of transfer, gestational age and birthweight. However, major malformations were significantly lower with IMSI (6/450, 1.33%) versus ICSI (22/578, 3.80%; adjusted odds ratio 0.35, 95% confidence interval 0.14-0.87, P = 0.014), mainly affecting boys (adjusted odds ratio 2.84, 95% confidence interval 1.24-6.53, P = 0.009). In conclusion, the significantly decreased risk of major birth defects associated with IMSI remained decreased after multivariate adjustment and highlights the beneficial effect of sperm selection before ICSI. The aim of this study was to compare the birth defects in children born after intracytoplasmic sperm injection (ICSI) and intracytoplasmic morphologically selected sperm injection (IMSI). We conducted a prospective population-based study from 2005 to 2010. Medical data and follow up at 2 years of age for 1028 infants were collected. We show that the major malformations were significantly lower in the IMSI group versus the ICSI group, and they mainly affected the boys. We found less abnormality when abnormal spermatozoa, according to the Cassuto Barak classification, were deselected at high magnification and not injected. In conclusion, the significantly decreased risk of major birth defects associated with IMSI remained decreased after multivariate adjustment and highlights the beneficial effect of spermatozoon selection before ICSI. Source


Rossi L.,Pediatric Rheumatology | Zulian F.,University of Padua | Billette de Villemur T.,Trousseau Hospital
Joint Bone Spine | Year: 2011

Objectives: To describe the initial manifestations and clinical characteristics of bone involvement in a cohort of patients with pediatric-onset Gaucher disease (GD). Methods: Patients with pediatric-onset GD, followed at the French Reference Center of Lysosomal Diseases, were retrospectively evaluated. Demographic characteristics, frequency, type and site of the relevant skeletal event were recorded. Results: Forty-four patients, 41 type 1 and three type 3 GD, entered the study. Bone involvement, present in 32% of the patients, was the second most frequent presenting feature of the disease after hepatosplenomegaly (41%). Children with bone symptoms at presentation were significantly older than those without (9.8 vs 5.6 years). At diagnosis, 45% of patients had a positive anamnesis of skeletal symptoms (bone pain and/or bone crisis). Two thirds of patients in which X-ray were taken showed evidence of at least one bone abnormality, mainly Erlenmeyer deformity and avascular necrosis. Seventy three percent of patients had at least one major skeletal event in their clinical history; among these, 45% had the first major skeletal event in pediatric age. Conclusions: Skeletal involvement is a frequent presenting feature of GD in children. Given its high prevalence, it should be carefully evaluated, in order to timely start appropriate therapy and prevent irreversible complications. © 2010 Société française de rhumatologie. Source


Coelho J.,University Paris Diderot | Beaugerie L.,University Pierre and Marie Curie | Colombel J.F.,Lille University Hospital Center | Hebuterne X.,University of Nice Sophia Antipolis | And 15 more authors.
Gut | Year: 2011

Background and aims: Few studies have been conducted addressing the safety of thiopurine treatment in pregnant women with inflammatory bowel disease (IBD). The aim of this study was to evaluate the pregnancy outcome of women with IBD who have been exposed to thiopurines. Methods: 215 pregnancies in 204 women were registered and documented in the CESAME cohort between May 2004 and October 2007. Physicians documented the following information from the women: last menstrual date, delivery term, details of pregnancy outcome, prematurity, birth weight and height, congenital abnormalities, medication history during each trimester, smoking history and alcohol ingestion. Data were compared between three groups: women exposed to thiopurines (group A), women receiving a drug other than thiopurines (group B) and women not receiving any medication (group C). Results: Mean age at pregnancy was 28.3 years. 75.7% of the women had Crohn's disease and 21.8% had ulcerative colitis, with a mean disease duration of 6.8 years at inclusion. Of the 215 pregnancies, there were 138 births (142 newborns), and the mean birth weight was 3135 g. There were 86 pregnancies in group A, 84 in group B and 45 in group C. Interrupted pregnancies occurred in 36% of patients enrolled in group A, 33% of patients enrolled in group B, and 40% of patients enrolled in group C; congenital abnormalities arose in 3.6% of group A cases and 7.1% of group B cases. No significant differences were found between the three groups in overall pregnancy outcome. Conclusions: The results obtained from this cohort indicate that thiopurine use during pregnancy is not associated with increased risks, including congenital abnormalities. Source

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