Rare and Common Variants Conferring Risk of Tooth Agenesis

We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach

On the periodic Wigner-Poisson-Fokker-Planck system

This paper is concerned with the existence and uniqueness analysis of global classical solutions of a diffusive quantum evolution equation with non-linear coupling to the Poisson equation. The main technical difficulty in the existence proof is to show that the quantum Fokker-Planck term is a semigroup-generator in a weighted L^{2}-space. The potential term is then a Lipschitz-perturbation of it

Familial colorectal cancer: a concept revisited

OBJECTIVE: The family history of patients with colorectal cancer (CRC) shows an increased risk of disease although evident inherited syndromes are demonstrable in only a small percentage of patients. The purpose of this study was to identify factors that might suggest an inherited component in the transmission of CRC. METHOD: The study monitored 880 consecutive patients between 1980 and 2005 treated for CRC. RESULTS: Familial adenomatous polyposis (FAP) was found in only one patient, and a classical mutation of hereditary nonpolyposis colon cancer was found in only two patients. The risk assessment was possible mainly because of factors such as early onset CRC, the presence of multiple primary tumours and a high risk family history. Considering these 36 more patients were suspected to be high risk and referred for further genetic testing. At least one first-degree relative with CRC was reported in 140 patients. In 49 patients, CRC was diagnosed before 50 years of age. Multiple primary tumours, colonic or extra colonic, synchronous or metachronous were found in 136 patients. CONCLUSION: Our study suggests that if only patients with identified mutations are taken into consideration, then the percentage of evident hereditary colon cancer is very low, but this percentage quickly increases if we make marginal adjustments to the identifying criteria. It seems that it is the physician's clinical suspicion, more than the fulfillment of rigid criteria, which plays a fundamental role in the timely identification and a subsequent focused treatment of patients with hereditary CR

Renal transplant from very old donors: how far can we go?

The organ shortage has led many transplant centers to accept kidneys from old, suboptimal deceased donors, and make increasing use of old-for-old allocation systems. We report the experience of an Italian transplant center in the utilization of "ultra-old" (>75 years old) donors. Methods. Sixty grafts from donors aged 75 years or older (mean age 79.1 years, range 75-90 years) were used for 38 patients: 16 as single and 22 as double transplants. Results. The actuarial graft survival rate was 73.7% for year 1, 69.8% for year 2, and 64.0% for year 3. The patient survival rate was 81.2% and remained stable for years 1, 2, and 3. The delayed graft function rate was 57.9%. Acute rejection and chronic allograft nephropathy rates were comparable with our other expanded criteria donors. The majority of the patients had stable creatinine levels, between 2 and 3 mg/mL after the second month, with sufficient creatinine clearance. Conclusions. Our results seems encouraging with patient and graft survival rates, complication rates, and renal function parameters being slightly worse than in expanded criteria donors, but still generally acceptable. The use of old kidneys in old recipients, bearing in mind their usual life expectancy, gives them a properly functioning kidney and improved quality of life

Craniofacial characteristics of children with mild hypodontia

INTRODUCTION: The aim of our study was to evaluate the craniofacial characteristics of children with mild hypodontia using conventional and principal component (PC) analysis. METHODS: We used radiographic images of 124 children (8-12 years old) with up to 4 missing teeth (55 boys, 69 girls) and of 676 reference children (365 boys, 311 girls) from the Rotterdam Generation R Study and the Nijmegen Growth Study in The Netherlands. Fifteen cephalometric measurements of children with hypodontia were compared with those of the reference children. Moreover, cephalometric parameters were combined into standardized PC scores using PC analysis, and the components were compared between the 2 groups. RESULTS: PC analysis showed common dental characteristics for all types of hypodontia: a significant increase of the interincisal angle, and decreases of the maxillary and mandibular incisor angles. Other findings were consistent when both methods were applied: (1) anterior hypodontia was significantly associated with the high-angle (hyperdivergent) craniofacial pattern, (2) the tendency toward a Class III malocclusion was identified in maxillary hypodontia, and (3) we observed a significant reduction of lower posterior facial height in children with posterior and mandibular hypodontia. CONCLUSIONS: Our findings suggest that children with mild hypodontia have distinctive skeletal and dental features