Collaborative hospital models for shared care and on-demand interconsultations. Which offer the best results for Orthopaedic Surgery and Trauma? / Modelos colaborativos hospitalarios de asistencia compartida e interconsultas a demanda. ¿Cuál ofrece mejores resultados en Cirugía Ortopédica y Traumatología?

BACKGROUND AND OBJECTIVES: Hospitalized surgical patients are increasing in medical complexity, thereby increasing the need for support by internal medicine departments. This support is provided through interconsultations, which present problems that have resulted in the development of shared care (SC). Our objective was to compare the healthcare results achieved by the SC and interconsultation models in Orthopaedic Surgery and Trauma. MATERIALS AND METHODS: We conducted an observational, prospective, multicentre study of patients hospitalized for emergency Orthopaedic Surgery and Trauma recorded in the REINA-SEMI registry, treated by internal medicine departments through interconsultation or SC. We recorded the demographic characteristics, comorbidity, medical complications, hospital stay and mortality. RESULTS: The study included 697 patients, 415 with SC and 282 with interconsultations. The SC patients were older (78.9 vs. 74.3; P<.001) underwent more operations (89.9 vs. 78.7%; P<.001), had fewer medical complications (50.4 vs. 62.8%; P<.001) and had shorter hospital stays (10 vs. 18 days; P<.001), with no differences in comorbidity or mortality. The following independent factors were associated with stays longer than 15 days: heart failure (OR 3.4; 95% CI 1.8-6.1; P<.001), the male sex (OR 1.9; 95% CI 1.2-3.1; P=.004), electrolyte disorder (OR 2.4; 95% CI 1.3-4.4; P=.003), respiratory infection (OR 1.9; 95% CI 1.04-3.7; P=.035), surgical delay (OR 1.1; 95% CI 1.08-1.2; P<.001) and treatment using the interconsultation on demand model (OR 3.5; 95% CI 2.3-5.4; P<.001). CONCLUSIONS: SC offers better healthcare results than interconsultations for patients hospitalized for emergency Orthopaedic Surgery and Trauma.

Non-motor symptoms burden, mood, and gait problems are the most significant factors contributing to a poor quality of life in non-demented Parkinson's disease patients: Results from the COPPADIS Study Cohort.

OBJECTIVE: To identify factors related to a poor health-related and global quality of life (QoL) in a cohort of non-demented Parkinson's disease (PD) patients and compare to a control group. METHODS: The data correspond to the baseline evaluation of the COPPADIS-2015 Study, an observational, 5-year follow-up, multicenter, evaluation study. Three instruments were used to assess QoL: (1) the 39-item Parkinson's disease Questionnaire (PDQ-39), (2) a subjective rating of global QoL (PQ-10), and (3) the EUROHIS-QOL 8-item index (EUROHIS-QOL8). Multiple linear regression methods were used to evaluate the direct impact of different variables on these QoL measures. RESULTS: QoL was worse in PD patients (n = 692; 62.6 ±â€¯8.9 years old, 60.3% males) than controls (n = 206; 61 ±â€¯8.3 years old, 49.5% males): PDQ-39, 17.1 ±â€¯13.5 vs 4.4 ±â€¯6.3 (p < 0.0001); PQ-10, 7.3 ±â€¯1.6 vs 8.1 ±â€¯1.2 (p < 0.0001); EUROHIS-QOL8, 3.8 ±â€¯0.6 vs 4.2 ±â€¯0.5 (p < 0.0001). A high correlation was observed between PDQ-39 and Non-Motor Symptoms Scale (NMSS) (r = 0.72; p < 0.0001), and PDQ-39 and Beck Depression Inventory-II (BDI-II) (r = 0.65; p < 0.0001). For health-related QoL (PDQ-39), non-motor symptoms burden (NMSS), mood (BDI-II), and gait problems (Freezing Of Gait Questionnaire [FOGQ]) provided the highest contribution to the model (ß = 0.32, 0.28, and 0.27, respectively; p < 0.0001); whereas mood and gait problems contributed the most to global QoL (PQ-10, ß = -0.46 and -0.21, respectively; EUROHIS-QOL8, ß = -0.44 and -0.23, respectively). CONCLUSIONS: QoL is worse in PD patients than in controls. Mood, non-motor symptoms burden, and gait problems seem to be the most relevant factors affecting health-related and global perceived QoL in non-demented PD patients.

Continued propagation of the CRF19_cpx variant among HIV-positive MSM patients in Spain.

Objectives: The HIV-1 CRF19_cpx genetic form has been recently associated with greater pathogenicity. We used CoRIS, a national cohort of 31 reference hospitals in Spain, to investigate the current epidemiological situation of this variant in Spain. Patients and methods: We analysed 4734 naive HIV-1-positive patients diagnosed during the 2007-15 period with an available pol gene sequence in the CoRIS resistance database. HIV-1 CRF19_cpx was ascribed through REGA3.0 and confirmed by a phylogenetic analysis. We analysed the presence of the transmission clusters of HIV-1 CRF19_cpx by maximum likelihood [with the randomized accelerated maximum likelihood (RAxML) program] and the time to the most recent common ancestor using Bayesian inference (BEAST, v. 1.7.5). Results: Nineteen patients were infected with CRF19_cpx: all were male, they had a mean age of 42.9 years (95% CI: 36.4-52.5 years), the majority were MSM [n = 18 (95%)] and of Spanish nationality [n = 16 (84.2%)] and they had high CD4+ T cell counts (∼415 cells/mm3). Fifteen patients were grouped into four different transmission clusters: two clusters (two patients each) grouped the patients from Valencia and another cluster grouped one patient from Madrid and another from Seville. We found a larger cluster that grouped nine patients from southern Spain (Malaga and Seville), of which six presented mutation G190A. We estimated the origin of all the transmission clusters to take place between 2009 and 2010. Conclusions: We demonstrate that this variant has spread in Spain in recent years among young HIV-positive MSM and we note a recent expansion in southern Spain in patients who carry mutation G190A. We alert healthcare managers to enhance preventive measures to prevent the continuous spread of HIV-1 CRF19_cpx.

The cobas® HCV GT is a new tool that accurately identifies Hepatitis C virus genotypes for clinical practice.

OBJECTIVE: We aimed to evaluate the correct assignment of HCV genotype/subtypes 1a and 1b by cobas® HCV genotyping (GT) assay (Roche Molecular Diagnostics) compared with nonstructural protein 5B (NS5B) sequencing. PATIENTS AND METHODS: Clinical samples from 153 patients submitted for HCV genotyping were studied. After genotyping with the cobas® HCV GT, sequencing of a 387 bp fragment in the NS5B gene and phylogenetic analysis was employed to compare genotyping results. Major discrepancies were defined as differences in the assigned genotype by cobas® HCV GT and NS5B sequencing (including genotype 1 subtypes 1a and 1b misclassification). RESULTS: Overall agreement between the cobas® HCV GT and NS5B sequencing was 98%; all the 1a, 1b, 2, 3 and 4 genotypes identified by cobas® HCV GT were concordant with NS5B sequencing. Three samples tested "indetermined" by cobas® HCV GT assay and were genotyped as 1a, 3a, and 4d by NS5B sequencing. CONCLUSSION: These results indicate that the cobas® HCV GT assay correctly identifies HCV genotypes, and points out the importance of additional methods based on DNA sequencing for resolving indeterminate results.

[Effectiveness of a program of early instillation single chemotherapy in patients with bladder cancer]. / Efectividad de un programa de instilación de quimioterapia precoz en pacientes con cáncer de vejiga.

OBJECTIVE: To determine the effectiveness of early intravesical chemotherapy intervention for patients with non-muscle invasive bladder cancer, before and after a training and inter-professional communication plan. METHOD: Non-experimental prospective longitudinal study of a cohort of 349 patients with endoscopic diagnosis of a non-muscle invasive bladder tumour in Northern Area Health Management of Cadiz between 2010 and 2013 and amenable to postoperative treatment with mitomycin C. RESULTS: The mean rate of patients included in the program was 53.9%. The inclusion rate rose by 79.3% at 3 years. The absolute risk reduction of recurrence for patients receiving treatment is 18.1% (95% CI; 8.81% - 27.48%, p<.001), and the number of patients needed to treat was 5.5 (95% CI; 3.6 - 11.3, p<.001). CONCLUSIONS: A program of early postoperative chemotherapy that includes a plan for evaluation and dissemination of results has achieved a good level of adherence among professionals, obtaining the expected impact on the reduction of early recurrence of non-muscle invasive bladder cancer.

Impact of 5-HTTLPR and BDNF polymorphisms on response to sertraline versus transcranial direct current stimulation: implications for the serotonergic system.

Transcranial direct current stimulation (tDCS) has been intensively investigated as a non-pharmacological treatment for major depressive disorder (MDD). While many studies have examined the genetic predictors of antidepressant medications, this issue remains to be investigated for tDCS. In the current study, we evaluated whether the BDNF Val66Met and the 5-HTT (5-HTTLPR) polymorphisms were associated with tDCS antidepressant response. We used data from a factorial trial that evaluated the efficacy of tDCS and sertraline and enrolled 120 moderate-to-severe, antidepressant-free participants. In the present study, we used analyses of variance to evaluate whether the BDNF (Val/Val vs. Met-carries) and 5-HTTLPR alleles (long/long vs short-carriers) were predictors of tDCS (active/sham) and sertraline (sertraline/placebo) response. Analyses were conducted on the polymorphisms separately and also on their interaction. Genotype frequencies were in Hardy-Weinberg equilibrium. BDNF polymorphism was not associated with treatment response. We found that 5-HTTLPR predicted tDCS effects as long/long homozygotes displayed a larger improvement comparing active vs. sham tDCS, while short-allele carriers did not. A dose-response relationship between active-sham differences with the long allele was also suggested. These results strengthen the role of the serotonergic system in the tDCS antidepressant effects and expand previous findings that reported that tDCS mechanisms of action partially involve serotonergic receptors. Therefore, we hypothesize that tDCS is a neuromodulation technique that acts over depression through the modulation of serotonergic system and that tDCS "top-down" antidepressant effects might not be optimal in brain networks with a hyperactive amygdala inducing bottom-up effects, such as occurs in short-carriers.

First report of a small supernumerary der(8;14) marker chromosome.

Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, generally equal in size or smaller than a chromosome 20 of the same metaphase spread. Most of them are unexpectedly detected in routine karyotype analyses, and it is usually not easy to correlate them with a specific clinical picture. A small group of sSMCs is derived from more than one chromosome, called complex sSMCs. Here, we report on a patient with a de novo complex sSMC, derived from chromosomes 8 and 14. Banding karyotype analysis, multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism (SNP)-based array, and fluorescence in situ hybridization (FISH) were performed to investigate its origin. Array and FISH analyses revealed a der(14)t(8;14)(p23.2;q22.1)dn. The propositus presents some clinical features commonly found in patients with partial duplication or triplication of 8p and 14q. This is the first report describing a patient with a congenital der(14)t(8;14)(p23.2;q22.1)dn sSMC.

Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features.

We present a 2-year-old boy with a de novo 46,XY,idic(Y)(q11.221),del(4)(q26q31.1) karyotype. G-banding, FISH, MLPA, and SNP-array techniques were used to characterize the 24-Mb deletion in 4q and the breakpoint in the isodicentric Y-chromosome region between 15,982,252 and 15,989,842 bp. The patient presented with mild facial dysmorphism, hemangioma, mild frontal cerebral atrophy, and Dandy-Walker variant. Essentially, this case reveals that patients can present more complex genomic imbalances than initially suspected.

Different conformation of two supernumerary 18p isochromosomes, one with a concomitant partial 18q trisomy.

The presence of a supernumerary 18p isochromosome is a rare chromosomal abnormality that results in 18p tetrasomy. This is a report on the clinical, cytogenetic and molecular findings of 2 non-related patients with a supernumerary 18p isochromosome. Both patients present some features of the 18p tetrasomy syndrome (strabismus, low-set ears, long and narrow fingers and toes), but additional characteristics were also observed. Cytogenetic analysis, FISH, MLPA and SNP array techniques showed that one of the isochromosomes is symmetric and monocentric, while the other is asymmetric and dicentric, yet resulting in a similar tetrasomy of the 18pter-18p10 region, followed by a partial 18q11.2 trisomy, an unprecedented finding in the literature.

Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome

Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems, with a wide clinical variability. Although mutations in the FBN1 gene have been recognized as the cause of the disease, more recently other loci have been associated with MFS, indicating the genetic heterogeneity of this disease. We addressed the issue of genetic heterogeneity in MFS by performing linkage analysis of the FBN1 and TGFBR2 genes in 34 families (345 subjects) who met the clinical diagnostic criteria for the disease according to Ghent. Using a total of six microsatellite markers, we found that linkage with the FBN1 gene was observed or not excluded in 70.6 percent (24/34) of the families, and in 1 family the MFS phenotype segregated with the TGFBR2 gene. Moreover, in 4 families linkage with the FBN1 and TGFBR2 genes was excluded, and no mutations were identified in the coding region of TGFBR1, indicating the existence of other genes involved in MFS. Our results suggest that the genetic heterogeneity of MFS may be greater that previously reported.

[Isolated intracranial Rosai-Dorfman disease: a case report and literature review]. / Enfermedad de Rosai-Dorfman intracraneal. Presentación de un caso y revisión de la literatura.

INTRODUCTION: Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease (RDD) is an idiopathic histiocytosis that usually affects the lymph nodes. Occasionally it may affect the CNS, being exceptional intracranial involvement without lymph node lesions. In the absence of typical radiological signs, affected patients are generally operated under the suspicion of a meningioma. The histological diagnosis is obtained after the surgical procedure. It is a clinicopathological entity not well known, controversy exists about its pathogenesis, clinical course and therapeutic management. CASE REPORT: We report the case of a 40-year-old male presented two generalized tonic-clonic seizures and brain MRI showed a left parieto-occipital extra-axial lesion extending into the posterior fossa, without presenting lesions at other levels. A partial resection of the lesion was performed and the histological findings were reported as Rosai-Dorfman disease. CONCLUSIONS: Despite its low frequency, the ERD should be included in the differential diagnosis of dural-based masses, compared to more common, such as meningiomas. Due to lack of specificity of additional studies its diagnosis is fundamentally histologic. More research is needed to define the best therapeutic option.

Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome.

Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems, with a wide clinical variability. Although mutations in the FBN1 gene have been recognized as the cause of the disease, more recently other loci have been associated with MFS, indicating the genetic heterogeneity of this disease. We addressed the issue of genetic heterogeneity in MFS by performing linkage analysis of the FBN1 and TGFBR2 genes in 34 families (345 subjects) who met the clinical diagnostic criteria for the disease according to Ghent. Using a total of six microsatellite markers, we found that linkage with the FBN1 gene was observed or not excluded in 70.6% (24/34) of the families, and in 1 family the MFS phenotype segregated with the TGFBR2 gene. Moreover, in 4 families linkage with the FBN1 and TGFBR2 genes was excluded, and no mutations were identified in the coding region of TGFBR1, indicating the existence of other genes involved in MFS. Our results suggest that the genetic heterogeneity of MFS may be greater that previously reported.

Charcot-MArie-tooth y analgesia epidural obstétrica, una opción segura / No disponible

No disponible

Validación de la Escala de Conductas Indicadoras de Dolor para valorar el dolor en pacientes críticos, no comunicativos y sometidos a ventilación mecánica: resultados del proyecto ESCID / Validation of the Scale of Behavior Indicators of Pain (ESCID) in critically ill, non-communicative patients under mechanical ventilation: results of the ESCID scale

ObjetivoDeterminar la fiabilidad y la validez de la Escala de Conductas Indicadoras de Dolor (ESCID) para valorar el dolor en pacientes críticos, no comunicativos y sometidos a ventilación mecánica (VM).MétodosEstudio observacional de desarrollo y validación de una escala como instrumento de medida en pacientes ingresados en UCI mayores de 18 años, con VM, no comunicativos. Se evaluó el dolor con las escalas Behavioural Pain Scale (BPS) y ESCID, simultáneamente, por dos evaluadores independientes, en aplicación de dos procedimientos dolorosos (PD): movilización y aspiración de secreciones, medidos antes, durante y después del PD. Análisis descriptivo de las características generales de la muestra. La fiabilidad de ESCID se midió a través de la consistencia interna de cada ítem con el coeficiente alfa de Cronbach. Mediante análisis de varianza de medidas repetidas se midió concordancia interobservador e intraobservador; se compararon los componentes de las dos escalas de dolor para medir el cambio entre los resultados obtenidos en función del tiempo, observador y procedimiento. La correlación entre las dos escalas se midió con la correlación de Pearson.ResultadosCuatrocientas ochenta observaciones en 42 pacientes, 62% varones; edad 57,33 ±16,35. Predomina patología infecciosa (36%) y neurológica (35%). Glasgow Coma Scale 8,45 ± 1,2 y Richmond Agitation-Sedation Scale −2,55 ± 1,5. La tensión arterial, frecuencia cardiaca y frecuencia respiratoria se mantuvieron estables. El coeficiente alfa de Cronbach para ESCID osciló entre 0,70-0,80. Existe una buena correlación entre ESCID y BPS, en los tres momentos de medición: correlación de Pearson antes 0,97, durante 0,94 y después 0,95.ConclusionesESCID constituye una herramienta útil y válida para valorar el dolor en pacientes críticos, no comunicativos y sometidos a VM (AU)

ObjectiveTo determine the reliability and validity of the “Scale of Behavior Indicators of Pain” (Escala de Conductas Indicadoras de Dolor: ESCID) as a tool to assess pain in the critically ill, non-communicative patients with mechanical ventilation.MethodsAn observational study of development and validation of this scale as an instrument for pain measurement in ICU patients over 18 years of age, who are uncommunicative and under mechanical ventilation. Their pain was assessed with the Behavioral Pain Scale (BPS) and the ESCID simultaneously, by two independent observers, when the painful maneuvers (PM), secretion aspiration and mobilization, were applied. Measurements were obtained before, during and after the PM. A descriptive analysis of the general characteristics of the population was carried out. The reliability of the ESCID was measured through the internal consistency of each item using Cronbach's alpha. Intraobserver and interobserver concordance was measured with the repeated measurements analysis of variance test. The components of the two pain scales were compared to obtain the change between the results obtained based on time, observer and procedure. The correlation between the scales was measured with the Pearson's correlation.ResultsA total of 480 observations were obtained in 42 patients, 62% were males; age 57.33 ± 16.35 years. The most frequent ICU admission was due to infectious disease (36%) and neurological disease (35%). Glasgow Coma Scale 8.45±1.2 and Richmond Agitation-Sedation Scale −2.55±1.5. Arterial blood pressure, heart rate and respiratory rate remained stable. Cronbach's s Alpha Coefficient for ESCID ranged from 0.70-0.80. There is a good correlation between the ESCID and BPS in the three measurement points in time: Pearson's correlation: before 0.97, during 0.94 and after 0.95.ConclusionsESCID is a reliable and valid tool to assess pain in critically ill, non-communicative patients under mechanical ventilation (AU)

Implicaciones anestésica en el síndrome de Marshall Smith / No disponible

No disponible