Factors affecting mandibular residual ridge resorption in edentulous patients: a preliminary report

The aim of the study was to assess the rate of mandibular residual ridge resorption in edentulous patients and to analyse the factors which determine this process. A group of 35 edentulous patients aged between 51 and 89 years, with a mean age of 74 (65-78) years, were included in the study. Individual factors (age, gender and duration of edentulousness), local biochemical parameters (oral hygiene and history of periodontal diseases) and systemic biochemical parameters (calcium and phosphate metabolism, diet, smoking, alcohol intake and systemic diseases), as well as physical factors involved in the process (the use of prosthetic dentures), were analysed. The study was performed on the basis of the results of dental examinations, assessment of panoramic radiograms, research surveys and total calcium and phosphate serum levels, which were determined using a calorimetric method. Bone resorption in the mandible affected all the study patients to varying extents. More than half the edentulous patients showed a high degree of mandibular residual ridge resorption. The duration of mandibular edentulism was found to be closely associated with values of the radiological IC/IM index, which is generally considered to reflect the degree of mandibular resorption. Total calcium serum levels were shown to correlate positively with the value of IC/IM index in these patients

Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign

Aims/hypothesis The aim of this study was to study dynamic changes in the prevalence of different types of diabetes in paediatric populations in Poland, with a specific focus on monogenic diabetes (MD). Methods Using epidemiologic data (PolPeDiab Collaboration) and nationwide genetic test results (TEAM Programme), we compared the prevalence of type 1, type 2 and cystic fibrosis-related diabetes (CFRD) and MD. Genetically confirmed MD included MODY, neonatal diabetes and Wolfram and Alström syndromes. The study covered all children aged 0-18 years treated for diabetes between 2005 and 2011 in three regions, inhabited by 23.7% (1,989,988) of Polish children, with a low prevalence of childhood obesity (<5%). Results The prevalence of type 1 diabetes showed a continuous increase, from 96 to 138/100,000 children. The prevalence of type 2 diabetes and CFRD also increased, from 0.3 to 1.01/100,000 children and from 0.1 to 0.95/100,000 children, respectively. The prevalence of MD was stable at between 4.2 and 4.6/100,000 children, accounting for 3.1-4.2% of children with diabetes, with glucokinase (GCK)-MODY being the most frequent type, amounting to 83% of patients with MD. The percentage of positive test results decreased with the number of referrals, suggesting that children with the highest probability of MD were referred initially, followed by those with a less clear-cut phenotype. The prevalence of neonatal diabetes equalled 1 in 300,000 children. Conclusions/interpretation The prevalence of MD in a paediatric population with a low prevalence of obesity remains stable and is nearly fivefold higher than that of type 2 diabetes and CFRD, justifying a need for increased access to genetic diagnostic procedures in diabetic children

Corneal abnormalities are novel clinical feature in Wolfram Syndrome

Purpose To evaluate corneal morphology among patients with Wolfram syndrome (WFS). Design Comparative observational longitudinal case series of WFS patients with a laboratory approach in the WFS1 gene knockout (Wfs1KO) mouse model. Methods A group of 12 patients with biallelic mutations in the WFS1 gene recruited from the whole country and a control group composed of 30 individuals with type 1 diabetes (T1D) were evaluated in a national reference center for monogenic diabetes. All subjects (n = 42) underwent a complete ophthalmic examination, computer videokeratography, and corneal thickness and endothelial measurements. Additionally, WFS patients (n = 9) underwent longitudinal videokeratography and Pentacam evaluation. Corneal characteristics were assessed and compared between both groups. Human and mouse corneas were subjected to immunohistochemistry to detect wolframin expression and microscopic evaluation to study corneal morphology ex vivo. Results Clinical and topographic abnormalities similar to keratoconus were observed in 14 eyes (58.3%) of 8 WFS patients (66.7%). Flat keratometry, inferior-superior dioptric asymmetry, skewed radial axis, logarithm of keratoconus percentage index, index of surface variance, index of vertical asymmetry, keratoconus index, central keratoconus index, index of height asymmetry, and index of height decentration differed between WFS and T1D patients. Immunohistochemistry demonstrated wolframin expression in human and mouse corneas. Compared with Wfs1WT mice, Wfs1KO mice also presented corneal abnormalities. Conclusions Patients with WFS present a high prevalence of changes in corneal morphology compatible with the diagnosis of early stages of keratoconus. Observations in a mouse model suggest that a mutation in the WFS1 gene may be responsible for corneal abnormalities similar to keratoconus