Phenotypic characterization and predictive analysis of p.Asp47Asn LDL receptor mutation associated with Familial Hypercholesterolemia in a Chilean population

BackgroundFamilial hypercholesterolemia (FH) is an inherited disorder mainly caused by mutations in the LDL receptor (LDL-R) and characterized by elevation of low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease.ObjectiveIn this study, we evaluated the clinical phenotype of the p.Asp47Asn, described as an uncertain pathogenic variant, and its effect on the structure of LDL-R and ligand interactions with apolipoproteins.Methods27 children and adolescents with suspected FH diagnosis were recruited from a pediatric endocrinology outpatient clinic. Blood samples were collected after 12 h fasting for lipid profile analysis. DNA sequencing was performed for six FH-related genes by Ion Torrent PGM platform and copy number variation by MLPA. For index cases, a familial cascade screening was done restricted to the same mutation found in the index case. In silico analysis were developed to evaluate the binding capacity of LDL-R to apolipoproteins B100 and E.ResultsLipid profile in children and adolescents demonstrated higher LDL-C levels in p.Asp47Asn carriers compared to the wild type genotype. In silico analysis predicted a reduction in the binding capacity of the ligand-binding modules LA1-2 of p.Asp47Asn LDL-R for ApoB100 and ApoE, which was not produced by local structural changes or folding defects but as a consequence of a decreased apparent affinity for both apolipoproteins.ConclusionThe clinical phenotype and the structural effects of p.Asp47Asn LDL-R mutation suggest that this variant associates to FH.     

Oral health effects of botulinum toxin treatment for drooling: a systematic review

Background Drooling is a major morbidity in several neurological diseases. Intraglandular botulinum neurotoxin (BoNT) injections have been used to manage this condition. However, by decreasing salivary flow, BoNT injections may result in an increased risk of caries and other oral adverse effects. In this study, we aimed to assess whether, in patients with drooling, intraglandular BoNT injections are associated with increased dental caries development, modifications on salivary composition (oral pH, buffering capacity and osmolality) and cariogenic bacterial load. Material and Methods We performed a systematic review, searching PubMed, CENTRAL, Web of Science, and Scopus for all experimental and observational studies reporting on adverse effects of intraglandular BoNT injections in patients with drooling. Primary study selection, quality assessment, and data extraction were independently performed by two researchers. No studies were excluded based on their language, publication status or date of publication. Studies’ quality was based on revised Cochrane Risk of Bias tools. Meta-analysis was not performed. Results We retrieved 1025 studies, of which 5 were included. Two studies were two randomized controlled trials and three quasi-experimental studies. None of the included studies found BoNT injections to be associated with dental caries development or with significant reductions in oral pH. One of the included primary studies even observed an increase in salivary buffer capacity. One study found an increase in Lactobacilli counts. As for the risk of bias, two studies were classified as having a critical risk, two as high risk and one as having some concerns. Conclusions Currently, there is no evidence that, in patients with drooling, BoNT injections associate with increased risk of dental caries or disturbances in oral pH or salivary buffering capacity. However, the included primary studies had important limitations and differences in their methodologies. Key words:Neurological diseases, drooling, sialorrhea, botulinum toxin, oral health, caries, saliva.     

Accuracy of three-dimensional virtual simulation of the soft tissues of the face in OrtogOnBlender for correction of class II dentofacial deformities: an uncontrolled experimental case-series study

Oral and Maxillofacial Surgery - To assess whether virtual simulations of the projection of the soft tissues of the face after class II bimaxillary orthognathic surgery, generated from 3D...     

Shoulder Isokinetic Strength Balance Ratio in Overhead Athletes: A Cross-Sectional Study

BackgroundStudies have grouped different overhead sports and evaluated together the isokinetic strength of shoulder internal (IR) and external (ER) rotator muscles. However, muscular adaptations could be a consequence of the specific sport, and some strength imbalance between these muscles may exist as a consequence of the muscular demand unique to the sport. Therefore, grouping different overhead sports together may not be adequate.PurposeTo compare strength balance ratios between different overhead sports (volleyball, handball, swimming, judo, baseball, softball, functional movements performed at high-intensity interval training, and tennis) with a control athletic group (no overhead group).Study designCross-sectional study.MethodsA total of 237 athletes were submitted to isokinetic shoulder strength tests. The isokinetic concentric and eccentric peak torque values of shoulder internal IR and external ER rotator muscles were measured. Conventional (CR) and functional strength ratios (FR) were calculated.ResultsThere were no significant differences between the sports for the CR in the male group. Female softball athletes (90.4±13.6%) had a significantly higher CR than judo (67.3±6.9%), volleyball (74.9±15.9%), and swimming athletes (70.3±8.7%). In the female group, judo athletes had lower FR values (0.76±0.19) than soccer athletes (1.31±0.35), volleyball athletes (1.24±0.27), functional movements performed at high intensity (1.10±0.1), and softball athletes (1.40±0.39). Female handball athletes also had a lower FR (0.99±0.25) than soccer athletes (1.31±0.35) and softball athletes (1.40±0.39). Male handball (0.90±0.23), tennis (0.86±0.30), and judo (0.68±0.22) athletes had lower FR values than soccer athletes (1.20±0.21) and volleyball athletes (1.25±0.28).ConclusionsCR for males may be analyzed together, as there were no significant differences between them. However, for females, the CR for softball athletes should be analyzed individually. As there were several differences between the overhead sports according to the FRs, the authors suggest caution in grouping overhead athletes across multiple sports. These results could have important implications for the design of injury prevention and rehabilitation programs associated with the shoulder joint in overhead sports.Level of Evidence3     

Four-year clinical prospective follow-up of resin composite restoration after selective caries removal using Er:YAG laser

Clinical Oral Investigations - The aim of this study was to longitudinally evaluate, after a 4-year period, the clinical longevity of composite resin restoration compared to the baseline, after...     

A Study in First-Episode Psychosis Patients: Does Angiotensin I-Converting Enzyme Activity Associated With Genotype Predict Symptom Severity Reductions After Treatment With Atypical Antipsychotic Risperidone?

BackgroundOur previous studies showed increased angiotensin I-converting enzyme (ACE) activity in chronic schizophrenia patients compared with healthy control (HC) volunteers, and the relevance of combining ACE genotype and activity for predicting schizophrenia was suggested.MethodsACE activity was measured in plasma of ACE insertion/deletion (I/D) genotyped HC volunteers (n = 53) and antipsychotic-naïve first-episode psychosis (FEP) patients (n = 45) assessed at baseline (FEB-B) and also after 2 months (FEP-2M) of treatment with the atypical antipsychotic risperidone.ResultsACE activity measurements showed significant differences among HC, FEP-B, and FEP-2M groups (F = 5.356, df = 2, P = .005) as well as between HC and FEP-2M (post-hoc Tukey’s multiple comparisons test, P = .004). No correlation was observed for ACE activity increases and symptom severity reductions in FEP as assessed by total Positive and Negative Syndrome Scale (r = −0.131, P = .434). FEP subgrouped by ACE I/D genotype showed significant ACE activity increases, mainly in the DD genotype subgroup. No correlation between ACE activity and age was observed in FEP or HC groups separately (r = 0.210, P = .392), but ACE activity level differences observed between these groups were influenced by age.ConclusionsThe importance of measuring the ACE activity in blood plasma, associated with ACE I/D genotyping to support the follow-up of FEP patients, did not show correlation with general symptom amelioration in the present study. However, new insights into the influence of age and I/D genotype for ACE activity changes in FEP individuals upon treatment was demonstrated.     

Anatomical basis for the intrahepatic glissonian approach during hepatectomies

Background

Anatomical liver resections are based on some basic technical principles such as vascular control, ischemic area delineation to be resected and maximum parenchymal preservation. These aspects are achieved by the intrahepatic glissonian approach, which consists in accessing the pedicles of hepatic segments within the hepatic parenchyma. Small incisions on well-defined anatomical landmarks are performed to approach the pedicles, making dissection of the hilar plate unnecessary.

Aim

Analyze parameters in liver anatomy related to intrahepatic surgical technique to glissonians pedicles, to set the normal anatomy related to the procedure and thereby facilitate the attainment of this technique.

Methods

Anatomical parameters related to the intrahepatic glissonian approach were studied in 37 cadavers. Measurements were performed with precision instruments. Data were expressed as mean±standard deviation. The subjects were divided into groups according to gender and liver weight and groups were compared statistically.

Results

Twenty-five cadavers were male and 12 female. No statistically significant difference was observed in virtually all parameters when groups were compared. This demonstrates the consistency of the anatomical parameters related to the intrahepatic glissonian approach.

Conclusion

The results obtained in this study made possible major technical advances in the realization of open and laparoscopic hepatectomies with intrahepatic glissonian approach, and can help surgeons to perform liver resections by this method.