Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.

Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion.

Axillary lymph node metastasis in second oropharyngeal cancer.

Background: The risk of metastasizing in axillary lymph node is occasional in the head and neck cancers. This pattern of spread is difficult to explain and totally unpredictable even for these lymphophilic cancers.

Observation: A 72-year-old patient benefited, 11 years ago, of surgical oncology care associated with adjuvant radiotherapy for squamous cell carcinoma of the left floor of the mouth (pT4 pN2b M0).

Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study.

Purpose: To determine the incidence and risk factors of occurrence of non-syndromic cleft lip and/or cleft palate (NSCLP) in Lubumbashi.

Method: A case-control study was conducted in the health district of Lubumbashi from February 2012 to December 2015. An exhaustive sampling, collecting all newborns with cleft lip and/or cleft palate (CL ± P) in maternity wards was conducted.

Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.

Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa.

Anthropometric and aesthetic outcomes for the nasolabial region in 101 consecutive African children with unilateral cleft lip one year after repair using the anatomical subunit approximation technique.

One hundred and one patients with complete or incomplete cleft lip underwent the anatomical subunit approximation technique for repair. The patients were followed up prospectively for 1year. The objective of this study was to determine the outcomes for the nasolabial area through anthropometric measurements and assessment of the Asher-McDade Aesthetic Index and Steffensen's criteria at 1year after surgery.

Reproducibility of three-dimensional posterior cranial base angles using low-dose computed tomography.

Objectives: One of the key aspects of three-dimensional (3D) craniofacial cephalometry is the measurement of posterior cranial base angle as this area is deeply involved in craniofacial development. The purpose of our retrospective study was to define the best reproducible 3D posterior cranial base angles among five 3D angles transposed from 2D cephalometry (Cousin, BL1 of Ross and Ravosa, Bjork, Delaire, CBA4 of Liberman) and seven 3D angles based on physical anthropology studies and on new concepts (R1 to R7). The null hypothesis was that all 3D posterior cranial base angles were equally reproducible.

Influence of Tracheostomy on Lung Deposition in Spontaneously Breathing Patients.

Background: Nebulized drugs are frequently administrated through tracheostomy in clinical routine. So far, the amount of drug deposited into the lung in these patients remains unknown. The aim of our pharmacokinetic study was to compare lung delivery of amikacin in the same subjects in two settings: spontaneously breathing through a tracheostomy and through the mouth.

[Lymph node metastases from squamous cell carcinoma of unknown primary site. Is it time to change of paradigm?].

The diagnosis of carcinoma of unknown primary (CUP) is made after exclusion of the presence of a mucosal primary. There are two mains options for the primary treatment of CUP, either a neck node dissection followed by postoperative radiotherapy or chemo-radiotherapy, or a primary radiotherapy or chemo-radiotherapy depending on the nodal stage followed in case of residual neck disease by a selective neck dissection. There is no data to suggest the superiority of one over the other.

Etiologic diagnosis of jaw osteonecrosis, other than bisphosphonate and radiotherapy related osteonecrosis.

Our purpose was to highlight the various etiologies of maxillo-mandibular osteonecrosis, other than radiotherapy and biphosphonate related osteitis that have been abundantly reported. We performed a PubMed search from August 1, 1972 to August 1, 2012 using the following MeSH terms: "osteonecrosis", "bone", "necrosis", "jaw", "maxilla", "mandible", "palate", "oral", "avascular necrosis", NOT "bisphosphonate" NOT "osteoradionecrosis". Most cases of osteonecrosis were iatrogenic.

[Etiologic diagnosis of jaw osteonecrosis, other than bisphosphonate and radiotherapy related osteitis].

Our purpose was to highlight the various etiologies of maxillo-mandibular osteonecrosis, other than radiotherapy and biphosphonate related osteitis that have been abundantly reported. We performed a PubMed search from August 1, 1972 to August 1, 2012 using the following MeSH terms: "osteonecrosis", "bone", "necrosis", "jaw", "maxilla", "mandible", "palate", "oral", "avascular necrosis", NOT "bisphosphonate" NOT "osteoradionecrosis". Most cases of osteonecrosis were iatrogenic.

Cortical activation resulting from the stimulation of periodontal mechanoreceptors measured by functional magnetic resonance imaging (fMRI).

Objective: To describe the normal cortical projections of periodontal mechanoreceptors.

Material And Methods: A device using von Frey filaments delivered 1-Hz punctate tactile stimuli to the teeth during fMRI. In a block design paradigm, tooth (T) 11 and T13 were stimulated in ten volunteers and T21 and T23 in ten other subjects.

Pentoxifylline and tocopherol in the treatment of yearly zoledronic acid-related osteonecrosis of the jaw in a corticosteroid-induced osteoporosis.

Osteonecrosis of the jaw (ONJ) is a well-known side effect of bisphosphonate (BP) therapy. ONJ is specifically related to the intravenous form of BPs and is usually seen in combination with other risk factors, such as dental surgery, concurrent corticosteroids, chemotherapy, and tobacco use. The risk of developing ONJ in patients treated with oral BPs for osteoporosis is lower than that in patients with cancer but is still significant.

Tumour response and safety of cetuximab in a window pre-operative study in patients with squamous cell carcinoma of the head and neck.

Background: To investigate the safety and activity of cetuximab in the pre-operative treatment of squamous cell carcinoma of the head and neck (SCCHN).

Patients And Methods: Cetuximab was administered for 2 weeks before surgery to 33 treatment-naïve patients selected for primary surgical treatment. Tumour biopsies, 2-[fluorine-18]-fluoro-2-deoxy-d-glucose positron emission tomography ((18)FDG-PET) and imaging were carried out at baseline and before surgery.

Aerosol delivery to the lung is more efficient using an extension with a standard jet nebulizer than an open-vent jet nebulizer.

Background: Open-vent jet nebulizers are frequently used to promote drug deposition in the lung, but their clinical efficacy and indications are not clear. Our study compared lung deposition of amikacin using two different configurations of a jet nebulizer (Sidestream(®)): one vented (N1) and one unvented with a corrugated piece of tubing (N2).

Methods: In vitro nebulizer performance was assessed by laser diffraction and filtering.

Osteosarcomas of the mandible: multidisciplinary management of a rare tumor of the young adult a cooperative study of the GSF-GETO, Rare Cancer Network, GETTEC/REFCOR and SFCE.

Background: Mandibular osteosarcomas (MOS) mostly affect young adults. Their treatment is extrapolated from that of extragnathic osteosarcomas.

Material And Methods: A retrospective multicooperative group study was conducted to determine the impact of chemotherapy, adjuvant radiation therapy and surgery on outcomes and to identify prognostic factors.

Intraparotid facial nerve schwannoma: case report and literature review.

A 68-year-old female presented with a right parotid mass and partial frontal peripheral facial nerve palsy. Pre-operatively, the mass was thought to be benign. Surgical intervention consisted of parotidectomy with sacrifice of the facial nerve due to the nerve's involvement in the tumoural process and its intrapetrosal course.

Brain plasticity and cortical correlates of osseoperception revealed by punctate mechanical stimulation of osseointegrated oral implants during fMRI.

Purpose: Our aim was to unveil the cortical neural correlates of osseoperception, i.e. the tactile sensation perceived when loading a bone-anchored implant, by taking oral implants as a model.

Aerosol delivery through tracheostomy tubes: an in vitro study.

Background: Our study investigated the influence of the cannula's inner diameter (ID) and of its removal on the expected respiratory dose of amikacin, using three different jet nebulizer configurations (Sidestream(®)): vented (N1), unvented with a piece of corrugated tubing attached to the expiratory limb of the T attachment (N2), and unvented alone (N3).

Methods: The jet nebulizer was filled with amikacin (500 mg/4 mL) and was attached to the tracheostomy tube. A lung model simulating spontaneous breathing was connected to the tracheostomy tube.

Schwannoma-like pleomorphic adenoma of the parotid.

Pleomorphic adenoma is the most common benign salivary gland tumour. It can occur in any salivary gland, but is most frequently found in the parotid gland. Chondroid metaplasia is a frequent finding in pleomorphic adenoma.

Reproducibility of three-dimensional cephalometric landmarks in cone-beam and low-dose computed tomography.

Objectives: The purpose of this study is to compare the reproducibility of three-dimensional cephalometric landmarks on three-dimensional computed tomography (3D-CT) surface rendering using clinical protocols based on low-dose (35-mAs) spiral CT and cone-beam CT (I-CAT). The absorbed dose levels for radiosensitive organs in the maxillofacial region during exposure in both 3D-CT protocols were also assessed.

Materials And Methods: The study population consisted of ten human dry skulls examined with low-dose CT and cone-beam CT.

Three-dimensional surgical guide for frontal-nasal-ethmoid-vomer disjunction in Le Fort III osteotomy.

The aim of this article was to describe the achievement and the clinical use of a new three-dimensional surgical guide for frontal-nasal-ethmoid-vomer osteotomy. The three-dimensional guide is based on a three-dimensional rapid prototyping model and provides the three-dimensional spatial orientation and depth for the frontonasal osteotome. The method was applied to a 7-year-old patient with Apert syndrome.