Lack of association between genetic variants in the mannose-binding lectin 2 (MBL2) gene and HPV infection

Genetic variants in the immunomodulatory gene mannose-binding lectin 2 (MBL2), were associated with risk, severity, and frequency of viral infections. In a case-control setting, we investigated the association of MBL2 functional polymorphisms with Human Papillomas Virus (HPV) infection. No differences between cases (HPV+) and controls (HPV-) were found in the distribution of each single genotypes or allele. Haplotype analysis did not show any difference between HPV+ and HPV- groups

Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age

OBJECTIVE: To investigate the influence of (CA)n repeats in the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene on birth size in children who are small or adequate-sized for gestational age and to correlate these polymorphisms with serum insulin-like growth factor 1 levels and insulin sensitivity in children who are small for gestational age, with and without catch-up growth. PATIENTS AND METHODS: We evaluated 439 infants: 297 that were adequate-sized for gestational age and 142 that were small for gestational age (66 with and 76 without catch-up). The number of (CA)n repeat in the insulin-like growth factor 1 gene and a variable number of tandem repeats in the insulin gene were analyzed using GENESCAN software and polymerase chain reaction followed by enzymatic digestion, respectively. Clinical and laboratory data were obtained from all patients. RESULTS: The height, body mass index, paternal height, target height and insulin-like growth factor 1 serum levels were higher in children who were small for gestational age with catch-up. There was no difference in the allelic and genotypic distributions of both polymorphisms between the adequate-sized and small infants or among small infants with and without catch-up. Similarly, the polymorphisms were not associated with clinical or laboratory variables. CONCLUSION: Polymorphisms of the (CA)n repeats of the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene, separately or in combination, did not influence pre- or postnatal growth, insulin-like growth factor 1 serum levels or insulin resistance

Validation of the test for finding word retrieval deficits (WoFi) in detecting Alzheimer's disease in a naturalistic clinical setting

Background Detecting impaired naming capacity contributes to the detection of mild (MildND) and major (MajorND) neurocognitive disorder due to Alzheimer’s disease (AD). The Test for Finding Word retrieval deficits (WoFi) is a new, 50-item, auditory stimuli-based instrument. Objective The study aimed to adapt WoFi to the Greek language, to develop a short version of WoFi (WoFi-brief), to compare the item frequency and the utility of both instruments with the naming subtest of the widely used Addenbrooke’s cognitive examination III (ACEIIINaming) in detecting MildND and MajorND due to AD. Methods This cross-sectional, validation study included 99 individuals without neurocognitive disorder, as well as 114 and 49 patients with MildND and MajorND due to AD, respectively. The analyses included categorical principal components analysis using Cramer’s V, assessment of the frequency of test items based on corpora of television subtitles, comparison analyses, Kernel Fisher discriminant analysis models, proportional odds logistic regression (POLR) models and stratified repeated random subsampling used to recursive partitioning to training and validation set (70/30 ratio). Results WoFi and WoFi-brief, which consists of 16 items, have comparable item frequency and utility and outperform ACEIIINaming. According to the results of the discriminant analysis, the misclassification error was 30.9%, 33.6% and 42.4% for WoFi, WoFi-brief and ACEIIINaming, respectively. In the validation regression model including WoFi the mean misclassification error was 33%, while in those including WoFi-brief and ACEIIINaming it was 31% and 34%, respectively. Conclusions WoFi and WoFi-brief are more effective in detecting MildND and MajorND due to AD than ACEIIINaming

Long-term risk prediction after major lower limb amputation: 1-year results of the PERCEIVE study

Background: Decision-making when considering major lower limb amputation is complex and requires individualized outcome estimation. It is unknown how accurate healthcare professionals or relevant outcome prediction tools are at predicting outcomes at 1-year after major lower limb amputation. Methods: An international, multicentre prospective observational study evaluating healthcare professional accuracy in predicting outcomes 1 year after major lower limb amputation and evaluation of relevant outcome prediction tools identified in a systematic search of the literature was undertaken. Observed outcomes at 1 year were compared with: healthcare professionals' preoperative predictions of death (surgeons and anaesthetists), major lower limb amputation revision (surgeons) and ambulation (surgeons, specialist physiotherapists and vascular nurse practitioners); and probabilities calculated from relevant outcome prediction tools. Results: A total of 537 patients and 2244 healthcare professional predictions of outcomes were included. Surgeons and anaesthetists had acceptable discrimination (C-statistic = 0.715), calibration and overall performance (Brier score = 0.200) when predicting 1-year death, but performed worse when predicting major lower limb amputation revision and ambulation (C-statistics = 0.627 and 0.662 respectively). Healthcare professionals overestimated the death and major lower limb amputation revision risks. Consultants outperformed trainees, especially when predicting ambulation. Allied healthcare professionals marginally outperformed surgeons in predicting ambulation. Two outcome prediction tools (C-statistics = 0.755 and 0.717, Brier scores = 0.158 and 0.178) outperformed healthcare professionals' discrimination, calibration and overall performance in predicting death. Two outcome prediction tools for ambulation (C-statistics = 0.688 and 0.667) marginally outperformed healthcare professionals. Conclusion: There is uncertainty in predicting 1-year outcomes following major lower limb amputation. Different professional groups performed comparably in this study. Two outcome prediction tools for death and two for ambulation outperformed healthcare professionals and may support shared decision-making

Probabilistic modeling of walking excitation for building floors

Slender floor structures are becoming increasingly prone to excessive vibration due to human-induced walking excitation. To prevent discomfort of floor occupants and/or malfunctioning of sensitive equipment, it is necessary to have a reliable means of estimating floor vibration in the design phase. For accurate estimation of the floor vibration, both reliable excitation and structural models are required. This paper concentrates on the former by evaluating the performance of the existing force models and suggesting their improvement. For this a force model adopted in the United Kingdom by the Concrete Society was applied to four nominally identical floors using their experimentally identified modal properties. After comparison with experimental data the drawbacks of the force model were identified after which an improved model of the walking-induced dynamic force, based on the combination of two existing methodologies used separately for low- and high-frequency floors, is proposed. The improved model accounts for the intersubject variability in the walking force with respect to the pacing frequency, step length, and forcing magnitude. Moreover, it includes all relevant frequency components of the walking force into analysis, removing the need for classification of floors as low or high frequency. The proposed approach should help designers and building owners to make more informed decisions when evaluating vibration serviceability of floor structures

Ultrasound diagnosis of fetal annular pancreas

A case of fetal 'duodenal' obstruction was brought to our attention at 37 weeks gestation. The patient was referred to our Prenatal Diagnosis Center with an ultrasound finding of 'double bubble' in the abdominal area of the fetus. We submitted the patient to an aimed ultrasound examination in order to establish the etiopathogenetic mechanism and to perfect the diagnosis. The ultrasound scans of the epigastric region strongly suggested the presence of annular pancreas. The diagnosis of duodenal stenosis due to annular pancreas was confirmed at birth and the infant underwent corrective surgery: duodeno-jejunostomy was successfully performed. We would like, in this context, to stress again the powerful diagnostic value of ultrasound investigation, when dealing with complex fetal malformations. The present report shows that high resolution echographic equipment and the ever-increasing qualification of medical staff make it possible to envisage the presence of annular pancreas already in prenatal life

MECKEL-GRUBER SYNDROME - ULTRASONOGRAPHIC DIAGNOSIS AT 13 WEEKS GESTATIONAL-AGE IN AN AT-RISK CASE

A case of early diagnosis at 13 weeks' gestational age of Meckel-Gruber syndrome by ultrasound is reported in a patient with a 25 per cent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed