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Le Touquet – Paris-Plage, France

Defachelles A.-S.,Center Oscar Lambret | Rocourt N.,Center Oscar Lambret | Branchereau S.,CHU Bicetre | Peuchmaur M.,CHU Robert Debre
Bulletin du Cancer | Year: 2012

A recent review of the literature identified more than 150 reported cases of pancreatoblastoma in children. However, the clinical, histological and therapeutic characteristics of this tumour are hardly known by most paediatric surgeons and oncologists. The clinical symptomatology is often discrete, such as abdominal pain and/or intestinal transit disturbances, and the revealing sign is usually the discovery of a voluminous abdominal mass. Pancreatoblastoma is most often located in the head or body of the pancreas but can be seen in any part of the pancreas. It forms a full mass, rather well encapsulated, round and soft in consistency, often large in size and that can develop beyond the limits of the pancreatic gland. The metastases may be present in the lymph nodes, liver, lungs and spleen. It is an embryonic organ tumour that morphologically resembles what the nephroblastoma or the hepatoblastoma are for the kidneys or liver, respectively. The pathological analysis characteristically shows two components in which cell density is often high: an epithelial component and a mesenchymatic component. The lab test evaluation should include an assay of alpha-foetoprotein. Elevated levels of this marker are often present in these tumours. An assay of this marker is therefore interesting, not only at the time of diagnosis, but especially for early diagnosis of relapses. The pancreatoblastoma treatment is above all surgical and only complete exeresis makes recovery possible. However, at the time of diagnosis, many patients are inoperable due to the extension of the tumour. The combination of cisplatin + adriamycin seems to be the most effective neoadjuvant chemotherapy regimen. Patients who have had an incomplete tumour exeresis pose a real problem due to the frequency of local relapses and/or metastases. Local irradiation is indicated in this case, as chemotherapy has not yet provided proven results in this context. ©John Libbey Eurotext. Source

Wolff N.,CRF Les Embruns | Paye-Jaouen A.,CHU Robert Debre | Boillot B.,Grenoble University Hospital Center | Grise P.,CHU Hopitaux de Rouen
Pelvi-perineologie | Year: 2011

Bladder exstrophy-epispadias complex (BEEC) is a rare malfunction of the urinary system, and its severity varies depending on whether it is partial or complete. Treatment is always by surgery and in two stages: (1) a neonatal bladder closure procedure and (2) bladder enlargement when the patient is about 4 years old, which often involves multiple steps, including reconstruction of the bladder neck. It may be necessary to resort to an urinary tract diversion. Genital repair is necessary for boys presenting epispadias, often associated with a tortuous urethra and a short penis. The surgical steps are many and complicated, but the objective is to allow these children to become continent, while preserving their upper urinary system and ensuring the best possible quality of life in terms of their future sexuality. © 2011 Springer-Verlag France. Source

Fares-Taie L.,University of Paris Descartes | Gerber S.,University of Paris Descartes | Chassaing N.,Toulouse University Hospital Center | Chassaing N.,University Paul Sabatier | And 21 more authors.
American Journal of Human Genetics | Year: 2013

Anophthalmia and microphthalmia (A/M) are early-eye-development anomalies resulting in absent or small ocular globes, respectively. A/M anomalies occur in syndromic or nonsyndromic forms. They are genetically heterogeneous, some mutations in some genes being responsible for both anophthalmia and microphthalmia. Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified homozygosity for one splice-site and two missense mutations in the gene encoding the A3 isoform of the aldehyde dehydrogenase 1 (ALDH1A3) in three consanguineous families segregating A/M with occasional orbital cystic, neurological, and cardiac anomalies. ALDH1A3 is a key enzyme in the formation of a retinoic acid gradient along the dorso-ventral axis during early eye development. Transitory expression of mutant ALDH1A3 open reading frames showed that both missense mutations reduce the accumulation of the enzyme, potentially leading to altered retinoic acid synthesis. Although the role of retinoic acid signaling in eye development is well established, our findings provide genetic evidence of a direct link between retinoic-acid- synthesis dysfunction and early-eye-development anomalies in humans. © 2013 The American Society of Human Genetics. Source

Morin C.,Toulouse University Hospital Center | Malivoir S.,CHU Robert Debre | Malivoir S.,University of Paris 13 | Le Tallec C.,Toulouse University Hospital Center | Gagnayre R.,University of Paris 13
Education Therapeutique du Patient | Year: 2013

Introduction: According to families of children with Type 1 diabetes followed in France's Midi-Pyrénées region, entrusting their children to others-even grandparents (GP)-is difficult. Diabetes becomes a barrier to hosting the child, even by his own family. Aim: To identify the educational needs of GPs in making it easier for the child to stay with them. Methods: Educational needs were analyzed in three stages: (a) using the results of a descriptive quantitative survey of 680 Midi-Pyrénées families; (b) refining those results with opinions collected at a "forum/gathering" of parents and GP on the topic "Entrusting my child to others," and (c) prioritizing needs by conducting parent and GP focus groups. Results: From the "forum/gathering" we were able to describe possible modifications to stays and some family relationship-related difficulties. The focus groups confirmed GP need for "self-care" (diet and treatment) and reassurance with regard to their anxiety, or even fears, about the child's stay. Conclusion: This paper discusses the potential benefits of specific therapeutic education for grandparents of diabetic children and their family circle. © 2012 EDP Sciences, SETE. Source

Levy M.,CHU Robert Debre | Bourrat E.,Saint Louis University Hospital | Baudouin V.,CHU Robert Debre | Guillem C.,Mantes la Jolie Hospital | And 3 more authors.
Pediatrics International | Year: 2015

Infection by Toxocara canis can cause systemic vasculitis. We report here a unique case of systemic lupus erythematosus (SLE) triggered by T. canis infection. An 8-year-old girl was treated with albendazole therapy for common toxocariasis, but she developed two weeks later, asthenia, fever, infiltrated maculopapular eruption of the face, peripheral vascular disease with necrosis of the fingers and inflammatory anemia with proteinuria. Anti-nuclear, anti-DNA and anti-Sm antibodies positivity, together with minimal change nephritis with mesangial exclusive IgM deposit on renal biopsy and clinical relapse after initially successful steroid therapy, led to the diagnosis of SLE. T. canis infection can trigger systemic lupus but must also be ruled out of the differential diagnosis given its association with autoimmunity. © 2015 Japan Pediatric Society. Source

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