Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome

Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on chromosome 7 (7q11.23), which encompasses the elastin (ELN) gene and about 27 other genes. The gold standard for WBS laboratory diagnosis is FISH (fluorescence in situ hybridization), which is very costly. As a possible alternative, we investigated the accuracy of three clinical diagnostic scoring systems in 250 patients with WBS diagnosed by FISH. We concluded that all three systems could be used for the clinical diagnosis of WBS, but they all gave a low percentage of false-positive (6.0-9.2%) and false-negative (0.8-4.0%) results. Therefore, their use should be associated with FISH testing. © FUNPEC-RP.

Clinical, histopathological and immunohistochemical assessment of human skin field cancerization before and after photodynamic therapy

Background The field cancerization concept in photodamaged patients suggests that the entire sun-exposed surface of the skin has an increased risk for the development of (pre)-malignant lesions, mainly epithelial tumours. Topical photodynamic therapy (PDT) is a noninvasive therapeutic method for multiple actinic keratosis (AK) with excellent outcome. Objectives To evaluate the clinical, histological and immunohistochemical changes in human skin with field cancerization after multiple sessions of PDT with methyl-aminolaevulinate (MAL). Methods Twenty-six patients with photodamaged skin and multiple AK on the face received three consecutive sessions of MAL-PDT with red light (37 J cm(-2)), 1 month apart. Biopsies before and 3 months after the last treatment session were taken from normal-appearing skin on the field-cancerized area. Immunohistochemical stainings were performed for TP-53, procollagen-I, metalloproteinase-1 (MMP-1) and tenascin-C (Tn-C). Results All 26 patients completed the study. The global score for photodamage improved considerably in all patients (P < 0.001). The AK clearance rate was 89.5% at the end of the study. Two treatment sessions were as effective as three MAL-PDT sessions. A significant decrease in atypia grade and extent of keratinocyte atypia was observed histologically (P < 0.001). Also, a significant increase in collagen deposition (P = 0.001) and improvement of solar elastosis (P = 0.002) were noticed after PDT. However, immunohistochemistry showed only a trend for decreased TP-53 expression (not significant), increased procollagen-I and MMP-1 expressions (not significant) and an increased expression of Tn-C (P = 0.024). Conclusions Clinical and histological improvement in field cancerization after multiple sessions of MAL-PDT is proven. The decrease in severity and extent of keratinocyte atypia associated with a decreased expression of TP-53 suggest a reduced carcinogenic potential of the sun-damaged area. The significant increase of new collagen deposition and the reduction of solar elastosis explain the clinical improvement of photodamaged skin.

From fall-risk assessment to fall detection: inertial sensors in the clinical routine and daily life

Falls are caused by complex interaction between multiple risk factors which may be modified by age, disease and environment. A variety of methods and tools for fall risk assessment have been proposed, but none of which is universally accepted. Existing tools are generally not capable of providing a quantitative predictive assessment of fall risk. The need for objective, cost-effective and clinically applicable methods would enable quantitative assessment of fall risk on a subject-specific basis. Tracking objectively falls risk could provide timely feedback about the effectiveness of administered interventions enabling intervention strategies to be modified or changed if found to be ineffective. Moreover, some of the fundamental factors leading to falls and what actually happens during a fall remain unclear. Objectively documented and measured falls are needed to improve knowledge of fall in order to develop more effective prevention strategies and prolong independent living. In the last decade, several research groups have developed sensor-based automatic or semi-automatic fall risk assessment tools using wearable inertial sensors. This approach may also serve to detect falls. At the moment, i) several fall-risk assessment studies based on inertial sensors, even if promising, lack of a biomechanical model-based approach which could provide accurate and more detailed measurements of interests (e.g., joint moments, forces) and ii) the number of published real-world fall data of older people in a real-world environment is minimal since most authors have used simulations with healthy volunteers as a surrogate for real-world falls. With these limitations in mind, this thesis aims i) to suggest a novel method for the kinematics and dynamics evaluation of functional motor tasks, often used in clinics for the fall-risk evaluation, through a body sensor network and a biomechanical approach and ii) to define the guidelines for a fall detection algorithm based on a real-world fall database availability.

Assessment of letrozole and tamoxifen alone and in sequence for postmenopausal women with steroid hormone receptor-positive breast cancer: the BIG 1-98 randomised clinical trial at 8·1 years median follow-up

Postmenopausal women with hormone receptor-positive early breast cancer have persistent, long-term risk of breast-cancer recurrence and death. Therefore, trials assessing endocrine therapies for this patient population need extended follow-up. We present an update of efficacy outcomes in the Breast International Group (BIG) 1-98 study at 8·1 years median follow-up.

Sonographic Assessment of Fetal Cardiac Function: Indirect Measurements of Fetal Cardiac Function, Newer Techniques and Clinical Applications

Noninvasive blood flow measurements based on Doppler ultrasound studies are the main clinical tool for studying the cardiovascular status of fetuses at risk for circulatory compromise. Usually, qualitative analysis of peripheral arteries and in particular clinical situations such as severe growth restriction or volume overload also of venous vessels close to the heart or of flow patterns in the heart is being used to gauge the level of compensation in a fetus. However, quantitative assessment of the driving force of the fetal circulation, the cardiac output remains an elusive goal in fetal medicine. This article reviews the methods for direct and indirect assessment of cardiac function and explains new clinical applications. Part 1 of this review describes the concept of cardiac function and cardiac output and the techniques that have been used to quantify output. Part 2 summarizes the use of arterial and venous Doppler studies in the fetus and gives a detailed description of indirect measurements of cardiac function (like indices derived from the duration of segments of the cardiac cycle) with current examples of their application.

Assessment of three frequently used blood glucose monitoring devices in clinical routine

Self-monitoring of blood glucose plays an important role in the management of diabetes and has been shown to improve metabolic control. The use of blood glucose meters in clinical practice requires sufficient reliability to allow adequate treatment. Direct comparison of different blood glucose meters in clinical practice, independent of the manufactures is scarce. We, therefore, aimed to evaluate three frequently used blood glucose meters in daily clinical practice.

Relative bone width of the edentulous maxillary ridge. Clinical implications of digital assessment in presurgical implant planning

Healthy, well-structured mucosa may clinically disguise atrophic jawbone in preimplant diagnosis.

Comparative assessment of clinical performance of esthetic bracket materials

To compare the alterations in esthetic appearance and slot morphology/integrity of two main types of esthetic brackets caused after clinical use.

Clinical application and reliability of a post abdominal surgery pain assessment scale (PASPAS) in horses

The aim of this study was to refine a multi-dimensional scale based on physiological and behavioural parameters, known as the post abdominal surgery pain assessment scale (PASPAS), to quantify pain after laparotomy in horses. After a short introduction, eight observers used the scale to assess eight horses at multiple time points after laparotomy. In addition, a single observer was used to test the correlation of each parameter with the total pain index in 34 patients, and the effect of general anaesthesia on PASPAS was investigated in a control group of eight horses. Inter-observer variability was low (coefficient of variation 0.3), which indicated good reliability of PASPAS. The correlation of individual parameters with the total pain index differed between parameters. PASPAS, which was not influenced by general anaesthesia, was a useful tool to evaluate pain in horses after abdominal surgery and may also be useful to investigate analgesic protocols or for teaching purposes.

Laser Doppler flowmetry for assessment of anterior mandibular teeth in conjunction with bone harvesting in the symphysis: a clinical pilot study

PURPOSE: To evaluate the pulp sensitivity and vitality of mandibular incisors and canines before and after bone harvesting in the symphysis. MATERIALS AND METHODS: In 20 patients requiring bone grafts from the symphysis, pulp sensitivity (carbon dioxide [CO2]) and pulpal blood flow (laser Doppler flowmetry [LDF]) of mandibular incisors and canines were evaluated preoperatively, postoperatively, and 6 months after surgery. Teeth were allocated to 1 of 3 groups according to their initial and final reaction to CO2 (group A = teeth with a positive reaction throughout the study, group B = teeth that exhibited a sensitivity change from positive to negative, and group C = teeth with a negative reaction throughout the study). RESULTS: Preoperative flux measurements (LDF) did not differ between groups A, B, and C. Teeth with sensitivity changes (group B) showed the greatest decrease (a statistically significant decrease) of pulpal blood flow over time, whereas teeth in groups A and C demonstrated an insignificant reduction of flux over time. DISCUSSION AND CONCLUSIONS: LDF was purely used as an experimental tool in the present study. Pulpal blood flow measurements using LDF demonstrated a decrease of flux over time in anterior mandibular teeth following bone harvesting in the symphysis. A significant change of flux, however, was only observed for teeth that also demonstrated a loss of pulp sensitivity during the same study period. Loss of pulp sensitivity appeared to be correlated to a significant decrease of blood flow assessed by LDF.

Clinical and radiographic assessment of various predictors for healing outcome 1 year after periapical surgery

This clinical study prospectively evaluated the influence of various predictors on healing outcome 1 year after periapical surgery. The study cohort included 194 teeth in an equal number of patients. Three teeth were lost for the follow-up (1.5% drop-out rate). Clinical and radiographic measures were used to determine the healing outcome. For statistical analysis, results were dichotomized (healed versus nonhealed). The overall success rate was 83.8% (healed cases). The only individual predictors to prove significant for the outcome were pain at initial examination (p=0.030) and other clinical signs or symptoms at initial examination (p=0.042), meaning that such teeth had lower healing rates 1 year after periapical surgery compared with teeth without such signs or symptoms. Logistic regression revealed that pain at initial examination (odds ratio=2.59, confidence interval=1.2-5.6, p=0.04) was the only predictor reaching significance. Several predictors almost reached statistical significance: lesion size (p=0.06), retrofilling material (p=0.06), and postoperative healing course (p=0.06).

Measurement of dental implant stability by resonance frequency analysis and damping capacity assessment: comparison of both techniques in a clinical trial

PURPOSE: Two noninvasive methods to measure dental implant stability are damping capacity assessment (Periotest) and resonance frequency analysis (Osstell). The objective of the present study was to assess the correlation of these 2 techniques in clinical use. MATERIALS AND METHODS: Implant stability of 213 clinically stable loaded and unloaded 1-stage implants in 65 patients was measured in triplicate by means of resonance frequency analysis and Periotest. Descriptive statistics as well as Pearson's, Spearman's, and intraclass correlation coefficients were calculated with SPSS 11.0.2. RESULTS: The mean values were 57.66 +/- 8.19 implant stability quotient for the resonance frequency analysis and -5.08 +/- 2.02 for the Periotest. The correlation of both measuring techniques was -0.64 (Pearson) and -0.65 (Spearman). The single-measure intraclass correlation coefficients for the ISQ and Periotest values were 0.99 and 0.88, respectively (95% CI). No significant correlation of implant length with either resonance frequency analysis or Periotest could be found. However, a significant correlation of implant diameter with both techniques was found (P < .005). The correlation of both measuring systems is moderate to good. It seems that the Periotest is more susceptible to clinical measurement variables than the Osstell device. The intraclass correlation indicated lower measurement precision for the Periotest technique. Additionally, the Periotest values differed more from the normal (Gaussian) curve of distribution than the ISQs. Both measurement techniques show a significant correlation to the implant diameter. CONCLUSION: Resonance frequency analysis appeared to be the more precise technique.