Publications by authors named "J T Bachelet"

The authors report the case of a 10-month-old child with total oral duplication. The authors review this pathology and the diagnostic and treatment modality through the few cases described in scientific history. The discussed etiopathogeny of this rare malformation is detailed in this work.

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Neurofibromatosis type 1 (NF1) is a disease characterized by high occurrence of benign and malignant brain tumours and caused by mutations of the neurofibromin protein. While there is an increasing evidence that NF1 is associated with radiosensitivity and radiosusceptibility, few studies have dealt with the molecular and cellular radiation response of cells from individuals with NF1. Here, we examined the ATM-dependent signalling and repair pathways of the DNA double-strand breaks (DSB), the key-damage induced by ionizing radiation, in skin fibroblast cell lines from 43 individuals with NF1.

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Purpose: MacCune-Albright syndrome (MAS) is a rare autosomal dominant osteo-hormonal disorder. MAS is characterized by a severe form of polyostotic fibrous dysplasia, 'café-au-lait' pigmentation of the skin and multiple endocrinopathies. MAS was shown to be caused by mosaic missense somatic mutations in the gene coding for the alpha-subunit of the stimulatory G-protein.

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Purpose: Although orbital blowout fractures are common, there is no consensus with respect to treatment decision making and long-term outcome. The purpose of this study was to evaluate the association between inferior rectus muscle (IRM) displacement and fracture size and the surgical repair decisions and clinical outcomes in patients with blowout fractures (BOFs).

Patients And Methods: We designed a prospective cohort study and enrolled all patients who presented to the University Hospital of Geneva for evaluation of a BOF.

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Facial feminization surgery brings a set of surgical procedures that address the three thirds of the face and aims to give feminine characteristics to a masculine face. The characteristics of the lower third of a male face are a long, broad chin, a prominent mandible with sharp angles (in connection with the insertions of the masseter muscles). Mandibular angle reduction is an important procedure of the male-to-female transformation.

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