Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations

Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood

Assignment of autogenous bone grafts for reconstruction of the alveolar ridge before implant placement

Introduction: Autologous bone is considered to be the “gold standard” for the reconstruction of the reabsorbed alveolar ridges. For small defects, autologous bone samples can be harvested from intraoral donor sites. However, extraoral donor sites are the first choice for any extensive augmentation of the alveolar ridges. The resorption of the bone grafts depends on several factors, including the recipient sites, the donor sites, volume of the bone grafts and whether or not the patient smokes. The aim of this study was to investigate the rate of autologous bone graft resorption, 4 months after the surgical reconstruction, according to their sites of origin, parietal or ramus, according to the grafted site, mandible or maxilla and according to the surgical indications. Patients and methods: 22 patients had 51 reconstructions of alveolar ridges with ramic or parietal onlay bone grafts. The increase of bone volume was assessed with computed tomography, immediately after augmentation (V0) and 4 months after the procedure (V1), before the placement of dental implants. Results: The mean rate of bone resorption was 26% for the parietal bone grafts and 27% for the ramus bone grafts after 4 months (p: ns). This rate was 26% for maxillary grafts and 25% for mandibular grafts (p: ns). This rate varies from 22% to 33% according to the etiology of the bone defect but these variations are not significant and ultimately, this rate of bone resorption was unaffected by the gender of patients. Conclusion: Based on these findings, the resorption of onlay grafts doesnʼt seems to be affected by the recipient and donor sites nor by the etiology of the bone defects. Parietal and ramic bone grafts showed limited resorption rates for the pre-implant reconstruction of alveolar ridges

Juvenile ossifying fibroma: case report and literature review. Management and differential diagnosis

Introduction: Juvenile ossifying fibroma (JOF) is a rare neoplasm characterized by the replacement of the normal bone matrix with osteo-fibrous tissue. It has the tendency to be locally aggressive despite its benign character and to have a strong tendency for recurrence. Observation: In this case report, the patient is a young man, aged 16, with rapidly advancing maxillary swelling. We describe the diagnostic procedure, the surgical procedure and the differential diagnosis to be eliminated. Discussion: The clinical presentation of JOF, and its rapid growth, can cause fear of other pathologies such as osteosarcoma. The radiological characteristics should reassure the practitioner and a histological examination confirmed the diagnosis. Conclusion: JOF is a benign tumor. It should be operated on at an early stage because of its rapid growth. In its clinical and histological presentation, its trabecular form may mimic an osteosarcoma

Ameloblastic fibrosarcoma of the mandible: case report and literature review

Introduction: Ameloblastic fibrosarcoma is a rare malignant odontogenic tumor. Over 50% reported cases have histological evidence of ameloblastic fibroma at the same site. The mortality rate of the tumor is 19% and its recurrence rate is 37%, which mandates a total resection along with long-term follow-up. Observation: We present the case of a 14-year-old male diagnosed with ameloblastic fibrosarcoma, who underwent multiple stages of treatments and was followed up over 8 years. The initial management consisted of a total tumor resection with chemoradiotherapy. Then, for bone, soft, mucosal, and dental restoration after resection, mandibular reconstruction with a fibula free flap, onlay iliac graft, iliac graft fixation, facial lipofilling treatments (two), vestibular deepening procedures (two), and implant-supported dental prosthesis were performed. Comments and conclusion: This is the first case reported in the literature for the global management of mandibular ameloblastic fibrosarcoma, from oncological treatment to functional and aesthetic long-term rehabilitation

Adenosine Receptors Profile in Fibromuscular Dysplasia

International audienceFibromuscular dysplasia (FMD) is a non-inflammatory vascular disease that is characterized by unexplained systemic hypertension occurring in young people, associated with arterial stenosis, aneurysm rupture, intracranial/renal infarction, and stroke. Although the gold standard for the diagnosis remains catheter-angiography, biological markers would be helpful due to the delay from first symptom to diagnosis. Adenosine is an ATP derivative, that may be implicated in FMD pathophysiology. We hypothesized that changes in adenosine blood level (ABL) and production of adenosine receptors may be associated with FMD. Using peripheral blood mononuclear cells, we evaluated A1, A2A, and A2B receptor production by Western blot, in 67 patients (17 men and 50 women, mean (range) age 55 (29–77) years and 40 controls, 10 men and 30 women, mean (range) age 56 (37–70)). ABL was evaluated by liquid chromatography, mass spectrometry. ABL was significantly higher in patients vs. controls, mean (range): 1.7 (0.7–3) µmol/L vs. controls 0.6 (0.4–0.8) µmol/L (+180%) p < 0.001. While A1R and A2AR production did not differ in patients and controls, we found an over-production of A2BR in patients: 1.70 (0.90–2.40; arbitrary units) vs. controls = 1.03 (0.70–1.40), mean + 65% (p < 0.001). A2BR production with a cut off of 1.3 arbitrary units, gives a good sensitivity and specificity for the diagnosis. Production measurement of A2BR on monocytes and ABL could help in the diagnosis, especially in atypical or with poor symptoms

A2 Adenosine Receptor Subtypes Overproduction in Atria of Perioperative Atrial Fibrillation Patients Undergoing Cardiac Surgery: A Pilot Study

International audienceObjective: Although atrial fibrillation is a common cardiac arrhythmia in humans, the mechanism that leads to the onset of this condition is poorly elucidated. Adenosine is suspected to be implicated in the trigger of atrial fibrillation (AF) through the activation of its membrane receptors, mainly adenosine receptor (AR) subtypes A 1 R and A 2 R. In this study, we compared blood adenosine concentration (BAC), and A 1 R, A 2A R, and A 2B R production in right (RA) and left atrium (LA), and on peripheral blood mononuclear cells (PBMCs) in patients with underlying structural heart disease undergoing cardiac surgery with or without peri-operative AF (PeOpAF). Methods: The study group consisted of 39 patients (30 men and 9 women, mean age, range 65 [40–82] years) undergoing cardiac surgery and 20 healthy patients (8 women and 12 men; mean age, range 60 [39–72] years) as controls were included. Among patients, 15 exhibited PeOpAF. Results: Blood adenosine concentration was higher in patients with PeOpAF than others. A 2A R and A 2B R production was higher in PBMCs of patients compared with controls and was higher in PeOpAF patients than other patients. In LA and RA, the production of A 2A R and A 2B R was higher in patients with PeOpAF than in other patients. Both A 2A R and A 2B R production were higher in LA vs. RA. A 1 R production was unchanged in all situations. Finally, we observed a correlation between A 1 R, A 2A R, and A 2B R production evaluated on PBMCs and those evaluated in LA and RA. Conclusions: Perioperative AF was associated with high BAC and high A 2A R and A 2B R expression, especially in the LA, after cardiac surgery in patients with underlying structural heart disease. Whether these increases the favor in triggering the AF in this patient population needs further investigation

Homocysteine concentration and adenosine A 2A

International audienceHyperhomocysteinemia is associated with coronary artery disease (CAD). The mechanistic aspects of this relationship are unclear. In CAD patients, homocysteine (HCy) concentration correlates with plasma level of adenosine that controls the coronary circulation via the activation of adenosine A2A receptors (A2AR). We addressed in CAD patients the relationship between HCy and A2AR production, and in cellulo the effect of HCy on A2AR function. 46 patients with CAD and 20 control healthy subjects were included. We evaluated A2AR production by peripheral blood mononuclear cells using Western blotting. We studied in cellulo (CEM human T cells) the effect of HCy on A2A R production as well as on basal and stimulated cAMP production following A2A R activation by an agonist‐like monoclonal antibody. HCy concentration was higher in CAD patients vs controls (median, range: 16.6 [7‐45] vs 8 [5‐12] µM, P < 0.001). A2A R production was lower in patients vs controls (1.1[0.62‐1.6] vs 1.53[0.7‐1.9] arbitrary units, P < 0.001). We observed a negative correlation between HCy concentration and A2A R production (r = −0.43; P < 0.0001), with decreased A2A R production above 25 µM HCy. In cellulo, HCy inhibited A2AR production, as well as basal and stimulated cAMP production. In conclusion, HCy is negatively associated with A2A R production in CAD patients, as well as with A2A R and cAMP production in cellulo. The decrease in A2A R production and function, which is known to hamper coronary blood flow and promote inflammation, may support CAD pathogenesis

Assault-related maxillofacial injuries:the results from the European Maxillofacial Trauma (EURMAT) multicenter and prospective collaboration

Objective. The aim of this study is to present and discuss the demographic characteristics and patterns of assault-related maxillofacial fractures as reported by a European multicenter prospective study. Study Design. Demographic and injury data were recorded for each patient who was a victim of an assault. Results. Assaults represented the most frequent etiology of maxillofacial trauma with an overall rate of 39% and the values ranging between 60.8% (Kiev, Ukraine) and 15.4% (Bergen, Norway). The most frequent mechanisms of assault-related maxillofacial fractures were fists in 730 cases, followed by kicks and fists. The most frequently observed fracture involved the mandible (814 fractures), followed by orbito-zygomatic-maxillary complex fractures and orbital fractures. Conclusions. Our data confirmed the strong possibility that patients with maxillofacial fractures may be victims of physical aggression. The crucial role of alcohol in assault-related fractures was also confirmed by our study