A comparison of the upper anterior teeth movements with optimized and conventional attachment.

Background: Invisalign® attachments are divided into two main groups: the conventional group and the optimized group, which is also known as the SmartForce™. The aim of this study is to compare the movements produced by an optimized crescent-shaped attachment in superior incisor teeth with the movements produced by a conventional rectangular attachment (vertical and horizontal) in the same teeth. Material and Methods: This retrospective study examined the movement table of the initial ClinCheck® and the first refinement of 95 patients (mean age 44.18 ± 4.125, 40 males and 55 females). It represented 147 upper incisors divided into two groups: 87 with rectangular attachment and 60 with optimized attachment. Applying Kravitz's accuracy formula for each movement and each tooth of interest (with attachments of interest), we underlined the effectiveness of each attachment. Mann-Whitney U test, Kruskal-Wallis test, and Pearson and Spearman correlation coefficients were used for statistical analysis. Results: The accuracies of rotation, mesio-distal angulation and vestibulo-lingual inclination are highly significantly related to the type of attachment used on the upper lateral incisor. The optimized attachment presented greater accuracy in the rotation of the lateral incisors than the conventional attachment. However, conventional vertical attachment showed a higher accuracy (p<.01) in the mesio-distal angulation and horizontal attachments showed a higher accuracy (p<.01) in the vestibulo-lingual inclination in the same group of teeth. Conclusions: Optimized attachments rotate better lateral incisors; conventional vertical attachments are more efficient to improve mesio-distal angulation; and horizontal attachments serve best for torque movements. Key words:Orthodontics, clear aligners, orthodontic tooth movements, attachments.

Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.

Inversions are structural variants that are generally balanced. However, they could lead to gene disruptions or have positional effects leading to diseases. Mutations in the NHS gene cause Nance-Horan syndrome, an X-linked disorder characterised by congenital cataracts and dental anomalies. Here, we aimed to characterise a balanced pericentric inversion X(p22q27), maternally inherited, in a child with syndromic bilateral cataracts by breakpoint mapping using whole-genome sequencing (WGS). 30× Illumina paired-end WGS was performed in the proband, and breakpoints were confirmed by Sanger sequencing. EdU assays and FISH analysis were used to assess skewed X-inactivation patterns. RNA expression of involved genes in the breakpoint boundaries was evaluated by droplet-digital PCR. We defined the breakpoint position of the inversion at Xp22.13, with a 15 bp deletion, disrupting the unusually large intron 1 of the canonical NHS isoform, and also perturbing topologically-associated domains (TADs). Moreover, a microhomology region of 5 bp was found on both sides. RNA analysis confirmed null and reduced NHS expression in the proband and his unaffected mother, respectively. In conclusion, we report the first chromosomal inversion disrupting NHS, fine-mapped by WGS. Our data expand the clinical spectrum and the pathogenic mechanisms underlying the NHS defects.

Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

Podocin is a key component of the slit diaphragm in the glomerular filtration barrier, and mutations in the podocin-encoding gene NPHS2 are a common cause of hereditary steroid-resistant nephrotic syndrome. A mutant allele encoding podocin with a p.R138Q amino acid substitution is the most frequent pathogenic variant in European and North American children, and the corresponding mutant protein is poorly expressed and retained in the endoplasmic reticulum both in vitro and in vivo To better understand the defective trafficking and degradation of this mutant, we generated human podocyte cell lines stably expressing podocinwt or podocinR138Q Although it has been proposed that podocin has a hairpin topology, we present evidence for podocinR138QN-glycosylation, suggesting that most of the protein has a transmembrane topology. We find that N-glycosylated podocinR138Q has a longer half-life than non-glycosylated podocinR138Q and that the latter is far more rapidly degraded than podocinwt Consistent with its rapid degradation, podocinR138Q is exclusively degraded by the proteasome, whereas podocinwt is degraded by both the proteasomal and the lysosomal proteolytic machineries. In addition, we demonstrate an enhanced interaction of podocinR138Q with calnexin as the mechanism of endoplasmic reticulum retention. Calnexin knockdown enriches the podocinR138Q non-glycosylated fraction, whereas preventing exit from the calnexin cycle increases the glycosylated fraction. Altogether, we propose a model in which hairpin podocinR138Q is rapidly degraded by the proteasome, whereas transmembrane podocinR138Q degradation is delayed due to entry into the calnexin cycle.

Building a Decision Support System for Inpatient Admission Prediction With the Manchester Triage System and Administrative Check-in Variables.

The usage of decision support tools in emergency departments, based on predictive models, capable of estimating the probability of admission for patients in the emergency department may give nursing staff the possibility of allocating resources in advance. We present a methodology for developing and building one such system for a large specialized care hospital using a logistic regression and an artificial neural network model using nine routinely collected variables available right at the end of the triage process.A database of 255.668 triaged nonobstetric emergency department presentations from the Ramon y Cajal University Hospital of Madrid, from January 2011 to December 2012, was used to develop and test the models, with 66% of the data used for derivation and 34% for validation, with an ordered nonrandom partition. On the validation dataset areas under the receiver operating characteristic curve were 0.8568 (95% confidence interval, 0.8508-0.8583) for the logistic regression model and 0.8575 (95% confidence interval, 0.8540-0. 8610) for the artificial neural network model. χ Values for Hosmer-Lemeshow fixed "deciles of risk" were 65.32 for the logistic regression model and 17.28 for the artificial neural network model. A nomogram was generated upon the logistic regression model and an automated software decision support system with a Web interface was built based on the artificial neural network model.

MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.

Xq28 microduplications including the MECP2 gene constitute a 100% penetrant X-linked syndrome in males caused by overexpression of normal MeCP2 protein. A small number of cases of affected females have been reported. This can be due to the location of the duplicated material into an autosome, but it can also be due to the location of the duplicated material into one of the X chromosomes and random or unfavorable skewed X chromosome inactivation, which is much more likely to occur but may be underdiagnosed because of the resulting broad phenotypic spectrum. In order to contribute to the phenotypic delineation of Xq28 microduplications including MECP2 in symptomatic females, the authors present clinical and molecular data on 3 patients illustrating the broad phenotypic spectrum. Our finding underlines the importance of quantitative analysis of MECP2 in females with intellectual disability and raises the question of the indication in females with borderline intellectual performances or learning difficulties.

Emergency Department Visit Forecasting and Dynamic Nursing Staff Allocation Using Machine Learning Techniques With Readily Available Open-Source Software.

Although emergency department visit forecasting can be of use for nurse staff planning, previous research has focused on models that lacked sufficient resolution and realistic error metrics for these predictions to be applied in practice. Using data from a 1100-bed specialized care hospital with 553,000 patients assigned to its healthcare area, forecasts with different prediction horizons, from 2 to 24 weeks ahead, with an 8-hour granularity, using support vector regression, M5P, and stratified average time-series models were generated with an open-source software package. As overstaffing and understaffing errors have different implications, error metrics and potential personnel monetary savings were calculated with a custom validation scheme, which simulated subsequent generation of predictions during a 4-year period. Results were then compared with a generalized estimating equation regression. Support vector regression and M5P models were found to be superior to the stratified average model with a 95% confidence interval. Our findings suggest that medium and severe understaffing situations could be reduced in more than an order of magnitude and average yearly savings of up to €683,500 could be achieved if dynamic nursing staff allocation was performed with support vector regression instead of the static staffing levels currently in use.

Lifting the weight of a diagnosis-related groups family change: a comparison between refined and non-refined DRG systems for top-down cost accounting and efficiency indicators.

Public healthcare providers in all Spanish Regions - Autonomous Communities (ACs) use All Patients Diagnosis-Related Groups (AP-DRGs) for billing non-insured patients, cost accounting and inpatient efficiency indicators. A national migration to All Patients Refined Diagnosis-Related Groups (APR-DRGs) has been scheduled for 2016. The analysis was performed on 202,912 inpatient care episodes ranging from 2005 to 2010. All episodes were grouped using AP-DRG v25.0 and APR-DRG v24.0. Normalised DRG weight variations for an AP-DRG to APR-DRG migration scenario were calculated and compared. Major differences exist between normalised weights for inpatient episodes depending on the DRGs family used. The usage of the APR-DRG system in Spain without any adjustments, as it was developed in the United States, should be approached with care. In order to avoid reverse incentives and provider financial risks, coding practices should be reviewed and structural differences between DRG families taken into account.

[The influence of dysfunctional thoughts on the burden of the dependent person caregiver]. / Influencia de los pensamientos disfuncionales en la sobrecarga de los cuidadores de personas dependientes.

OBJECTIVE: To determine the influence of dysfunctional thoughts and their relationship on the burden of caregivers. METHOD: Descriptive study conducted in the San Andrés Torcal Health Centre, Malaga, Spain, in 2010. SUBJECTS: A random sample was selected from dependent person caregivers of the centre. Those patients who were receiving palliative care and those cases where the care was less than 6 weeks were excluded.We used the Dysfunctional Thoughts Questionnaire (DTQ) and the short Zarit questionnaire was used on the caregivers. Sociodemographic variables of the caregiver and variables related to care (presence of support, duration of care, and if applicable, the type of help received by them), were collected. Sociodemographic variables of the patients, as well as the Barthel index and presence or absence of dementia were recorded. ANALYSIS USED: descriptive analysis, Pearson correlation coefficient to assess the association between quantitative variables and Kolmogorov-Smirnov test. RESULTS: The mean DTQ score was 49.94 (95% CI; 42.0 - 49.8). The burden measured by Zarit test and dysfunctional thoughts were positively associated (Pearson correlation coefficient 0.57, P<.001). CONCLUSIONS: Dysfunctional thoughts have a high impact on our population of caregivers and may be a contributing factor to the onset of fatigue in the caregiver role.There is a positive association between stress of caregivers and dysfunctional thoughts, and is more intensive in caregivers of patients without dementia.

Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.

CONTEXT: The phenotypic variability of patients with syndromes presenting with dysmorphism makes clinical diagnosis difficult, leading to an exhaustive genetic study to determine the underlying mechanism so that a proper diagnosis could be established. OBJECTIVE: To genetically characterize siblings, the older sister diagnosed with Albright hereditary osteodystrophy and the younger one with CHARGE syndrome. DESIGN: Clinical case report. METHODS: Clinical, biochemical, and radiological studies were performed on the family. In addition, molecular genetic studies including sequencing of GNAS, typing of microsatellites on 2q and 21q, and multiplex ligation-dependent probe amplification of subtelomeric regions were performed, as well as confirmatory fluorescent in situ hybridization analysis. RESULTS: The genetic analysis revealed that both sisters presented a 2q37 deletion due to the maternal unbalanced segregation of a 2;21 translocation. CONCLUSIONS: This is the first report of a 2q37 deletion where differential diagnosis of CHARGE syndrome is needed due to the appearance of choanal atresia.

Association between the proliferative rate of neoplastic B cells, their maturation stage, and underlying cytogenetic abnormalities in B-cell chronic lymphoproliferative disorders: analysis of a series of 432 patients.

Limited knowledge exists about the impact of specific genetic abnormalities on the proliferation of neoplastic B cells from chronic lymphoproliferative disorders (B-CLPDs). Here we analyze the impact of cytogenetic abnormalities on the proliferation of neoplastic B cells in 432 B-CLPD patients, grouped according to diagnosis and site of sampling, versus their normal counterparts. Overall, proliferation of neoplastic B cells highly varied among the different B-CLPD subtypes, the greatest numbers of proliferating cells being identified in diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL). Compared with normal B cells, neoplastic B-CLPD cells showed significantly increased S + G(2)/M-phase values in mantle cell lymphoma (MCL), B-chronic lymphocytic leukemia (B-CLL), BL, and some DLBCL cases. Conversely, decreased proliferation was observed in follicular lymphoma, lymphoplasmacytic lymphoma/Waldenström macroglobulinemia (LPL/WM), and some DLBCL patients; hairy cell leukemia, splenic marginal zone, and MALT-lymphoma patients showed S + G(2)/M phase values similar to normal mature B lymphocytes from LN. Interestingly, in B-CLL and MCL significantly higher percentages of S + G(2)/M cells were detected in BM versus PB and in LN versus BM and PB samples, respectively. In turn, presence of 14q32.3 gene rearrangements and DNA aneuploidy, was associated with a higher percentage of S + G(2)/M-phase cells among LPL/WM and B-CLL cases, respectively.

Satisfaction with treatment and prevalence of discomfort after external electrical cardioversion.

The objective of this study was to evaluate patient satisfaction with direct current (DC) cardioversion and the prevalence of discomfort after the process. A descriptive study of patients (N = 75) who underwent DC cardioversion in the cardiology department of the Juan Canalejo Hospital, Spain, was conducted. As many as 53.8% of the patients stated that they experienced discomfort with DC cardioversion. The factors associated with relatively more discomfort were being a female and younger age. Receiving information before DC cardioversion protected against discomfort (OR = 0.16). All of the patients were satisfied with the way they were treated, but 21.2% were not satisfied with the results. After adjusting for different covariates, patients who were informed about cardioversion before the procedure were more satisfied with the treatment (OR = 4.9). The patients showed a high degree of satisfaction with the treatment received. Information increases the probability of satisfaction and decreases discomfort.