Publications by authors named "Mariette Renaux Petel"

Unlabelled: The supracondylar fracture of the child is a common fracture. Its physiology, physiopathology and treatment use periosteum. As far as we know, there is no 3D printed model of this typical fracture in children with periosteum.

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Introduction: The aim was to compare the efficacy of polyacrylate polyalcohol copolymer (PPC) injections and dextranomer/hyaluronic acid (Dx/Ha) injections for the endoscopic treatment of vesicoureteral reflux in children.

Material: This retrospective cohort study included 189 young patients who had endoscopic treatment for vesicoureteral reflux from January 2012 to December 2019 in our center. Among them, 101 had PCC injections and 88 had Dx/Ha injections.

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Introduction: SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating SMG9 variants in a context of severe syndromic developmental disorder. To our knowledge, no additional patient has been described since this first report.

Methods: We performed exome sequencing in a patient exhibiting a syndromic developmental delay and in her unaffected parents and report the phenotypic features.

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We described the initial experience of four referral centers in the treatment of primary obstructive megaureter (POM) in children, by high-pressure balloon dilatation (HPBD) of the ureterovesical junction with double JJ stenting. We managed a retrospective multicenter study to assess its effectiveness in long-term. We reviewed the medical records of all children who underwent HPBD for POM that require surgical treatment from May 2012 to December 2017 in four different institutions.

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Background: Diffusion-weighted imaging plays a key role in the imaging of acute pyelonephritis by MRI. However the use of respiratory triggering is challenging and time-consuming in children. Diffusion tensor imaging without respiratory triggering might provide satisfying images of the moving kidneys.

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Objective: To assess the effectiveness of intradetrusor injections of botulinum toxin type A (IDBTX-A) in children with spina bifida.

Methods: All patients aged less than 16 years old who underwent IDBTX-A between 2002 and 2016 at 6 institutions were included in a retrospective study. Our primary endpoint was the success rate of IDBTX-A defined as both clinical improvement (no incontinence episodes between clean intermittent catheterizations [CICs], absence of urgency, and less than 8 CICs per day) and urodynamic improvement (resolution of detrusor overactivity and normal bladder compliance for age) lasting ≥12 weeks.

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Article Synopsis
  • Development of certain tumors before age 31 or multiple cancers may indicate germline mutations, which are significant in the context of Li-Fraumeni syndrome (LFS).
  • This study analyzed 328 patients with germline mutations, finding that 14% of cases involved de novo mutations, with some occurring during embryonic development.
  • The researchers also discovered mosaic mutations in both affected individuals and their unaffected relatives, emphasizing the need for medical labs to effectively identify these mutations during testing.
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Pyogenic sacroiliitis is exceptional in very young children. Diagnosis is difficult because clinical examination is misleading. FABER test is rarely helpful in very young children.

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Article Synopsis
  • The study aimed to enhance understanding of Li-Fraumeni syndrome (LFS), a genetic condition linked to a high risk of different cancers, by examining 1,730 patients and their TP53 mutations.
  • In their findings, 322 mutation carriers developed 552 tumors, with many experiencing multiple cancers, and early onset of tumors was common, particularly in childhood, where certain types like osteosarcomas and adrenocortical carcinomas were prevalent.
  • The study concludes that the severity and type of cancer associated with TP53 mutations vary, suggesting a need for personalized treatment strategies based on the specific mutation type.
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In the Li-Fraumeni syndrome (LFS) resulting from germline TP53 mutations, the MDM2 SNP309G allele has been shown to be associated with an earlier age of tumour onset, however the significance of this association is controversial. The 285C variation, also located in the MDM2 promoter, has been shown to reduce the strength of Sp1 binding to MDM2 promoter, antagonizing the effect of the 309G variation. In this study, we investigated the interaction of the MDM2 SNP285 and 309 in a large series of 195 LFS patients.

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Introduction: The aim of this study was to evaluate the medium-term results and complications of open inguinal varicocelectomy, including vein ligation, intraoperative venography, and antegrade sclerotherapy.

Materials And Methods: Sixty-four children were treated between 2000 and 2009 for idiopathic varicocele. Fifty children were examined 6 months after surgery.

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In contrast to other tumor suppressor genes, the majority of TP53 alterations are missense mutations. We have previously reported that in the Li-Fraumeni syndrome (LFS), germline TP53 missense mutations are associated with an earlier age of tumor onset. In a larger series, we observed that mean age of tumor onset in patients harboring dominant negative missense mutations and clearly null mutations was 22.

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