Relationship between intraperitoneal pressure and the development of hernias in peritoneal dialysis: confirmation for the first time of a widely accepted concept.

BACKGROUND: Intraperitoneal pressure (IPP) in peritoneal dialysis (PD) is an individual characteristic that can be modified by posture and intraperitoneal volume (IPV). It is considered one of the predisposing factors for complications in the abdominal wall, such as the appearance of hernias. No studies to date have confirmed this. The main aim of this study was to assess the relationship between the development of hernia in incident PD patients and IPP measured at PD onset. METHODS: A prospective observational study of incident patients in a PD programme between 2010 and 2020. IPP was measured using the Durand's method. RESULTS: One hundred and twenty-four incident patients on PD, 68% male, mean age 62.1 ± 15.23 years, body mass index (BMI) 27.7 ± 4.82 kg/m2, 44% were diabetic. IPP in supine was 16.6 ± 4.60 cm H2O for a mean IPV of 2047.1 ± 359.19 mL. Hernias were reported in 18.5% of patients during PD follow-up: 57% were inguinal hernias, 33% umbilical, and a further 10% presented in a combined form. PD hernias correlated positively with IPP in supine position (p = 0.037), patient age (p = 0.008), BMI (p = 0.043), a history of prior hernia (0.016), laparoscopic catheter placement (p = 0.026), and technique failure (p = 0.012). In the multivariate analysis, a higher IPP was independently related to the development of hernias (p = 0.028). CONCLUSIONS: The development of hernias in PD was related to a higher IPP at PD onset, older age, higher BMI, history of prior hernia, catheter placement by laparoscopy, and technique failure.

Rediscovery of Rhyacoglanis pulcher (Boulenger, 1887) (Siluriformes: Pseudopimelodidae), a rare rheophilic bumblebee catfish from Ecuadorian Amazon.

Rhyacoglanis pulcher is a rare Neotropical rheophilic bumblebee catfish known only from the type locality in the Cis-Andean Amazon region, Ecuador, and the type-species of the genus. So far, the three syntypes collected in 1880 were the only specimens unambiguously associated to the name R. pulcher available in scientific collections. Recently, a specimen was discovered in a fast-flowing stretch of the Villano river, a tributary of the Curaray river, Napo river basin, Ecuador, representing a new record after nearly 140 years. Here, we present this new record, identified by morphology, provide the DNA barcode sequence of the specimen, and propose why the species of Rhyacoglanis are scarce in zoological collections. Additionally, we discuss the intraspecific variation in the color pattern observed in R. pulcher.

Complicaciones agudas hospitalarias en adultos mayores con Enfermedad Cerebrovascular asociadas a características neuro-geriátricas / Acute hospital complications in older adults with Cerebrovascular Disease associated with neurogeriatric characteristics

INTRODUCCIÓN: La enfermedad cerebrovascular en los adultos mayores tiene implicaciones clínicas, sociales y económicas que pueden comprometer la funcionalidad y la calidad de vida. Es importante determinar las complicaciones que puede presentar el paciente geriátrico con enfermedad cerebrovascular durante los días de estancia hospitalaria. OBJETIVO: Determinar las características neuro-geriátricas asociadas a las complicaciones agudas no neurológicas y los días de hospitalización de los pacientes adultos mayores con enfermedad cerebrovascular. MATERIALES Y MÉTODOS: Estudio descriptivo prospectivo. Población de 120 y muestra de 73 pacientes mayores de 65 años con enfermedad cerebro vascular de la Unidad de Neurología del Hospital Carlos Andrade Marín que inició en agosto de 2020 y culminó en enero 2021. Se excluyó a pacientes que no cumplieron el criterio mencionado, con dependencia funcional total previa, patologías psiquiátricas previas, o personas que no aceptaron ser parte del estudio. Se efectuó el seguimiento de los pacientes desde el ingreso hasta el alta hospitalaria, para identificar complicaciones agudas no neurológicas y días de hospitalización. Se determinó las características neuro-geriátricas mediante las escalas de Barthel, Gijón, Charlson, Norton, Glasgow y NIHSS. Se obtuvo riesgo relativo e intervalos de confianza, considerando significativo un valor p<0,05. RESULTADOS: La edad media fue de 77 (±8,5) años. Las complicaciones fueron infección de tracto urinario (22,0%), neumonía (20,0%), desequilibrio hidroelectrolítico (19,0%), disfagia (13,0%) y úlceras por presión (9,0%). Las complicaciones que se presentaron significativamente ante una estancia hospitalaria prolongada comparada con quienes no las presentaron fueron la Neumonía (Media 5,81 (1,47 a 10,16) con IC 95%) y la infección del tracto urinario (Media 4,95 (1,52 a 8,38) con IC 95%). Según las características neuro-geriátricas y las complicaciones, encontramos diferencia estadísticamente significativa solo con en el grupo de riesgo bajo, según la escala de Norton RR 0,744 con IC 95% (0,584 - 0,949). CONCLUSIONES: Es importante realizar la valoración geriátrica integral al paciente neurológico tanto al ingreso como al egreso hospitalario, ya que permite detectar complicaciones que pueden pasar desapercibidas y prolongar la estancia hospitalaria.

INTRODUCTION: Cerebrovascular disease in older adults has clinical, social, and economic implications that can compromise functionality and quality of life. It is important to determine the complications that the geriatric patient with cerebrovascular disease may present during hospital days. OBJECTIVE: To determine the neuro-geriatric characteristics associated with acute non-neurological complications and hospital days in older adult patients with cerebrovascular disease. MATERIALS AND METHODS: Prospective descriptive study. Population of 120 and sample of 73 patients older than 65 years with cerebrovascular disease from the Neurology Unit of the Carlos Andrade Marín Hospital that began in August 2020 and culminated in January 2021. Patients who did not meet the aforementioned criteria, with previous total functional dependence, previous psychiatric pathologies, or people who did not agree to be part of the study were excluded. Patients were followed up from admission to hospital discharge to identify acute non-neurological complications and days of hospitalization. Neuro-geriatric characteristics were determined using the Barthel, Gijon, Charlson, Norton, Glasgow and NIHSS scales. Relative risk and confidence intervals were obtained, considering a p-value <0.05 as significant. RESULTS: Mean age was 77 (±8.5) years. Complications were urinary tract infection (22.0%), pneumonia (20.0%), water and electrolyte imbalance (19.0%), dysphagia (13.0%) and pressure ulcers (9.0%). Complications that occurred significantly in the face of a prolonged hospital stay compared to those who did not present were Pneumonia (Mean 5.81 (1.47 to 10.16) with 95% CI) and urinary tract infection (Mean 4.95 (1.52 to 8.38) with 95% CI). According to neuro-geriatric characteristics and complications, we found statistically significant difference only with in the low risk group, according to the Norton scale RR 0.744 with 95% CI (0.584 - 0.949). CONCLUSIONS: It is important to perform comprehensive geriatric assessment of the neurological patient both on admission and hospital discharge, as it allows the detection of complications that may go unnoticed and prolong hospital stay.

FFPE samples from cavitational ultrasonic surgical aspirates are suitable for RNA profiling of gliomas.

During surgical procedures for gliomas, tissue material obtained from cavitational ultrasonic surgical aspirators (CUSAs) is generally discarded but can actually exceed the amount and quality of certain tumour core resections (TCRs). Despite reports indicating the suitability of CUSA-derived material for diagnosis and research, its use is still marginal. We extended these conclusions to formalin-fixed, paraffin-embedded (FFPE) samples, the most common format for archival tumour tissue in anatomical pathology departments, by conducting for the first time RNA-seq analysis in CUSA aspirates. We compared the molecular diagnosis of somatic mutations used in the clinical routine and the gene expression profiles of fixed solid material from CUSA aspirates and TCRs from the same patients in selected gliomas encompassing grades II to IV. Despite the characteristic heterogeneity of gliomas, we found substantial similarities between the corresponding aspirates and TCRs that included transcriptional signatures associated with glioma subtypes. Based on these results, we confirmed that CUSA-fixed biomaterials from glioma surgeries are appropriate for downstream applications and biomarkers screening.

TFAP2E Methylation and Expression Status Does Not Predict Response to 5-FU-based Chemotherapy in Colorectal Cancer.

Purpose: A recent study reported that 5-fluorouracil (5-FU)-based chemotherapy is less effective in treating patients with advanced colorectal cancer demonstrating hypermethylation of the TFAP2E gene. The aim of our study was to confirm and validate these findings in large, uniformly treated, well-characterized patient cohorts.Experimental Design: Two cohorts of 783 patients with colorectal cancer: 532 from a population-based, multicenter cohort (EPICOLON I) and 251 patients from a clinic-based trial were used to study the effectiveness of TFAP2E methylation and expression as a predictor of response of colorectal cancer patients to 5-FU-based chemotherapy. DNA methylation status of the TFAP2E gene in patients with colorectal cancer was assessed by quantitative bisulfite pyrosequencing analysis. IHC analysis of the TFAP2E protein expression was also performed.Results: Correlation between TFAP2E methylation status and IHC staining was performed in 607 colorectal cancer samples. Among 357 hypermethylated tumors, only 141 (39.6%) exhibited loss of protein expression. Survival was not affected by TFAP2E hypermethylation in stage IV patients [HR, 1.21; 95% confidence interval (CI), 0.79-1.87; log-rank P = 0.6]. In stage II-III cases, disease-free survival was not influenced by TFAP2E hypermethylation status in 5-FU-treated (HR, 0.91; 95% CI, 0.52-1.59; log-rank P = 0.9) as well as in nontreated patients (HR, 0.88; 95% CI, 0.5-1.54; log-rank P = 0.7).Conclusions:TFAP2E hypermethylation does not correlate with loss of its protein expression. Our large, systematic, and comprehensive study indicates that TFAP2E methylation and expression may not play a major role in predicting response to 5-FU-based chemotherapy in patients with colorectal cancer. Clin Cancer Res; 24(12); 2820-7. ©2018 AACR.

IGFBP3 methylation is a novel diagnostic and predictive biomarker in colorectal cancer.

BACKGROUND AND AIM: Aberrant hypermethylation of cancer-related genes has emerged as a promising strategy for the development of diagnostic, prognostic and predictive biomarkers in human cancer, including colorectal cancer (CRC). The aim of this study was to perform a systematic and comprehensive analysis of a panel of CRC-specific genes as potential diagnostic, prognostic and predictive biomarkers in a large, population-based CRC cohort. PATIENTS AND METHODS: Methylation status of the SEPT9, TWIST1, IGFBP3, GAS7, ALX4 and miR137 genes was studied by quantitative bisulfite pyrosequencing in a population-based cohort of 425 CRC patients. RESULTS: Methylation levels of all genes analyzed were significantly higher in tumor tissues compared to normal mucosa (p<0.0001); however, cancer-associated hypermethylation was most frequently observed for miR137 (86.7%) and IGFBP3 (83%) in CRC patients. Methylation analysis using the combination of these two genes demonstrated greatest accuracy for the identification of colonic tumors (sensitivity 95.5%; specificity 90.5%). Low levels of IGFBP3 promoter methylation emerged as an independent risk factor for predicting poor disease free survival in stage II and III CRC patients (HR = 0.49, 95% CI: 0.28-0.85, p = 0.01). Our results also suggest that stage II & III CRC patients with high levels of IGFBP3 methylation do not benefit from adjuvant 5FU-based chemotherapy. CONCLUSION: By analyzing a large, population-based CRC cohort, we demonstrate the potential clinical significance of miR137 and IGFBP3 hypermethylation as promising diagnostic biomarkers in CRC. Our data also revealed that IGFBP3 hypermethylation may serve as an independent prognostic and predictive biomarker in stage II and III CRC patients.

Gerstmann-Sträussler-Scheinker syndrome with variable phenotype in a new kindred with PRNP-P102L mutation.

Gerstmann-Sträussler-Scheinker syndrome (GSS) is a dominantly inherited disorder belonging to the group of transmissible human spongiform encephalopathies or prion diseases. Several families affected by GSS with patients carrying mutations in the prion protein gene have been described worldwide. We report clinical, genealogical, neuropathology and molecular study results from two members of the first Argentine kindred affected by GSS. Both family members presented a frontotemporal-like syndrome, one with and the other without ataxia, with different lesions on neuropathology. A Pro to Leu point mutation at codon 102 (P102L) of the prion protein gene was detected in one of the subjects studied. The pathogenic basis of phenotypic variability observed in this family remains unclear, but resembles that observed in other P102L GSS patients from the same family.

Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers.

BACKGROUND: Lynch syndrome (LS) is a hereditary condition that increases the risk for endometrial and other cancers. The identification of endometrial cancer (EC) patients with LS has the potential to influence life-saving interventions. We aimed to study the prevalence of LS among EC patients in our population. METHODS: Universal screening for LS was applied for a consecutive series EC. Tumor testing using microsatellite instability (MSI), immunohistochemistry (IHC) for mismatch-repair (MMR) protein expression and MLH1-methylation analysis, when required, was used to select LS-suspicious cases. Sequencing of corresponding MMR genes was performed. RESULTS: One hundred and seventy-three EC (average age, 63 years) were screened. Sixty-one patients (35%) had abnormal IHC or MSI results. After MLH1 methylation analysis, 27 cases were considered suspicious of LS. From these, 22 were contacted and referred for genetic counseling. Nineteen pursued genetic testing and eight were diagnosed of LS. Mutations were more frequent in younger patients (<50 yrs). Three cases had either intact IHC or MSS and reinforce the need of implement the EC screening with both techniques. CONCLUSION: The prevalence of LS among EC patients was 4.6% (8/173); with a predictive frequency of 6.6% in the Spanish population. Universal screening of EC for LS is recommended.

Creutzfeldt-Jakob disease surveillance in Argentina, 1997-2008.

BACKGROUND: Epidemiological data on Creutzfeldt-Jakob disease (CJD) from Latin America are limited. We present a comprehensive epidemiological survey on CJD patients in Argentina based on systematic surveillance between 1997 and 2008. METHODS: A CJD Surveillance Referral Center (SRC) was established in Argentina in 1997; previously a Neuropathology Referral Center was used from 1983 to 1996. All suspected cases referred to the SRC were classified using established criteria on the basis of information derived from the following: clinical data form, EEG, MRI (both for central review), cerebrospinal fluid (CSF) for protein 14-3-3 Western blot (WB), autopsy or biopsy material for neuropathology, prion protein (PrP) immunohistochemistry and PrP WB, as well as blood for DNA studies (when brain tissue was not available). RESULTS: Of the 517 patients referred to the SRC between 1997 and 2008, 211 (40.8%) had CJD or other transmissible spongiform encephalopathies (TSEs) (definite or probable). Possible cases totaled 14.5%, while cases with no WHO criteria accounted for 16.4%. Non-CJD cases excluded by biopsy/autopsy or during follow-up corresponded to 28.2% of the 517 referrals. Main differential diagnoses included neurodegenerative diseases such as Alzheimer's disease, frontotemporal dementia, vascular, metabolic or viral encephalopathy, and Hashimoto's disease. Five percent of referred patients ultimately recovered. Eighty-three percent of TSE cases were sporadic CJD; 17% were genetic, mainly E200K (15.6%); the remaining 1.4% included an octarepeat insertion and two Gerstmann-Sträussler-Scheinker cases (P102L). Seventy-four of 100 definite cases had frozen tissue available for molecular subtyping (PrP(Sc)/codon 129). CSF protein 14-3-3 WB sensitivity was 72.3% and specificity was 92.1%. Clinical diagnostic criteria for probable CJD when compared to definite diagnosis by neuropathology showed 71.3% sensitivity, 86.2% specificity, 94.4% positive predictive value and 48% negative predictive value. Country incidence increased over time and reached 0.85 cases per million in 2008, with the highest rate detected in the city of Buenos Aires (1.8). Districts with 6% of the total population have never reported suspected cases. CONCLUSION: In spite of an increase in incidence observed over time, the difference between Buenos Aires city, where the incidence is comparable to that of smaller European countries with higher population density, and the incidence observed in the rest of the country suggests underreporting in nonmetropolitan areas, probably due to a lack of access to specialized medical facilities. CSF WB sensitivity results for protein 14-3-3 were probably linked to the fact that testing was not routinely repeated during the course of the disease, when earlier test results had been negative. The spectrum of molecular CJD subtypes observed did not differ from other countries in Europe. No iatrogenic or variant CJD cases were identified. The sensitivity and negative predictive value of clinical diagnostic criteria for probable CJD (which includes EEG and/or CSF protein 14-3-3 levels) may have been resulted from confirmed cases not meeting probable criteria before autopsy, due to a lack of ancillary tests such as EEG and/or CSF 14-3-3 WB, or because negative tests were not repeated during follow-up.

5-Fluorouracil adjuvant chemotherapy does not increase survival in patients with CpG island methylator phenotype colorectal cancer.

BACKGROUND & AIMS: 5-Fluorouracil (5-FU)-based adjuvant chemotherapy does not increase survival times of patients with colorectal tumors with microsatellite instability. We determined the response of patients with colorectal tumors with the CpG island methylator phenotype (CIMP) to 5-FU-based therapy. METHODS: We analyzed a population-based cohort of 302 patients with colorectal cancer (CRC) for a median follow-up time of 50.7 months. CIMP status was determined by analysis of the CACNAG1, SOCS1, RUNX3, NEUROG1, and MLH1 promoters; tumors were considered to be CIMP positive if at least 3 promoters were methylated. RESULTS: Tumors from 29.5% of patients (89/302) were CIMP positive; CIMP status did not influence disease-free survival (DFS; log-rank = 0.3). Of tumors of TNM stages II-III (n = 196), 32.7% were CIMP positive. Among patients with stages II-III CRC who did not receive adjuvant 5-FU chemotherapy, those with CIMP-positive tumors had longest times of DFS (log-rank = 0.04); In patients who received chemotherapy, those with CIMP-positive tumors had shorter times of DFS (log-rank = 0.02). In patients with CIMP-negative tumors, adjuvant 5-FU chemotherapy significantly increased time of DFS (log-rank = 0.00001). However, in patients with CIMP-positive tumors, adjuvant 5-FU chemotherapy did not affect time of DFS (log-rank = 0.7). Multivariate analysis showed a significant, independent interaction between 5-FU treatment and CIMP status (hazard ratio [HR], 0.6; 95% confidence interval [CI], 0.5-0.8). Among patients with CIMP-positive tumors, adjuvant chemotherapy was not an independent predictor of outcome (HR, 0.8; 95% CI, 0.3-2.0). In patients who did not receive adjuvant 5-FU chemotherapy, CIMP status was the only independent predictor of survival (HR, 2.0; 95% CI, 1.1-3.8). CONCLUSIONS: Patients with CIMP-positive colorectal tumors do not benefit from 5-FU-based adjuvant chemotherapy.

Do Spanish children use the syllable in visual word recognition in learning to read?

The purpose of this study was to investigate whether Spanish children that are learning to read use the syllable unit in word reading. We used a visual version of the syllable monitoring technique (Mehler, Dommerges, Freavenfelder & Seguí, 1981). For Experiment I, we selected first grade readers at the end of the first year of reading instruction. In the Experiment II we selected second grade readers at the middle of the second year of reading instruction. Participants responded whenever the structure of the target string (e.g., bal) appeared at the beginning of a subsequently presented printed word (e.g., bala). The target was either a consonant-vowel (CV) or consonant-vowel-consonant (CVC) structure and either did or did not correspond to the initial syllable of the target-bearing word. At the end of the first year of reading instruction, children showed significant effects of syllable compatibility (faster detection times when the targets correspond to the initial syllable of target-bearing words than when they did not). When we tested children of the second year of reading instruction, they also showed a syllable compatibility effect. These results suggest that Spanish children use syllabic units at the beginning of reading instruction in the visual word recognition.

Methylation analysis of MLH1 improves the selection of patients for genetic testing in Lynch syndrome.

Inactivation of MLH1 due to promoter hypermethylation strongly suggests a sporadic origin, providing exclusion criteria for Lynch syndrome. The aim of this study is to compare the utility of methylation analysis of MLH1 and BRAF V600E mutations for the selection of patients with MLH1 negative colorectal cancer for genetic testing. MLH1 methylation status was evaluated by MethyLight and methylation-specific MLPA (MS-MLPA) in tumor DNA from 73 colorectal cancer patients with loss of MLH1 protein expression. These tumors were analyzed for BRAF V600E mutations, and genetic testing for germline MLH1 mutations was performed in all corresponding patients. Ten patients had germline mutations in MLH1 and none of their tumors showed significant MLH1 methylation or BRAF V600E mutation. MLH1 genetic testing excluded patients by MethyLight in 47 patients (64%), by MS-MLPA in 49 (67%), and BRAF V600E mutation in only 25 patients (34%) (chi(2) P = 0.00001). Specificity was 75% for MethyLight, 78% for MS-MLPA and 40% for BRAF V600E mutation. The use of MethyLight or MS-MLPA instead of BRAF mutation resulted in a cost reduction of 41% and 45%, respectively, per every MLH1 mutation detected. Taken together, methylation analysis of MLH1 shows better performance characteristics than BRAF V600E mutation in the selection of patients for genetic testing of MLH1, especially when using MS-MLPA.

Do Spanish children use the syllable in visual word recognition in learning to read?

The purpose of this study was to investigate whether Spanish children that are learning to read use the syllable unit in word reading. We used a visual version of the syllable monitoring technique (Mehler, Dommerges, Freavenfelder & Seguí, 1981). For Experiment I, we selected first grade readers at the end of the first year of reading instruction. In the Experiment II we selected second grade readers at the middle of the second year of reading instruction. Participants responded whenever the structure of the target string (e.g., bal) appeared at the beginning of a subsequently presented printed word (e.g., bala). The target was either a consonant-vowel (CV) or consonant-vowel-consonant (CVC) structure and either did or did not correspond to the initial syllable of the target-bearing word. At the end of the first year of reading instruction, children showed significant effects of syllable compatibility (faster detection times when the targets correspond to the initial syllable of target-bearing words than when they did not). When we tested children of the second year of reading instruction, they also showed a syllable compatibility effect. These results suggest that Spanish children use syllabic units at the beginning of reading instruction in the visual word recognition (AU)

El principal objetivo de este estudio fue analizar si los niños españoles que aprenden a leer se apoyan en la sílaba para el reconocimiento visual de palabras. Usamos una versión visual de la técnica de monitorización de sílaba (Mehler, Dommerges, Freavenfelder y Seguí, 1981). En un primer experimento seleccionamos a niños que estaban finalizando el primer año de instrucción lectora, y en un segundo experimento seleccionamos a niños que estaban en el segundo año de instrucción lectora. Los niños tenían que responder si la sílaba que se presentaba como target (v.gr., bal) aparecía al principio de una palabra que se presentaba posteriormente en la pantalla del ordenador (v.gr., bala). La sílaba target era una sílaba con estructura consonante-vocal (CV) o con estructura consonante-vocal-consonante (CVC) que podía corresponder o no con la sílaba inicial de la palabra que se presentaba. Al final del primer año de instrucción lectora, se encontró un efecto significativo de compatibilidad silábica (i.e., los tiempos de reacción fueron más rápidos cuando la estructura de la sílaba target correspondía a la estructura de la sílaba inicial de la palabra presentada). Cuando analizamos las respuestas de los niños en el segundo año de instrucción de la lectura, se encontró también un efecto significativo de compatibilidad silábica. Estos resultados sugieren que los niños españoles que aprenden a leer se apoyan en la sílaba para el reconocimiento visual de las palabras (AU)

Utility of p16 immunohistochemistry for the identification of Lynch syndrome.

PURPOSE: Immunohistochemistry for mismatch repair proteins has shown utility in the identification of Lynch syndrome, but majority of tumors with loss of MLH1 expression are due to sporadic hypermethylation of the MLH1 promoter. These tumors can also show epigenetic silencing of other genes, such as p16. The aim of our study is to evaluate the utility of p16 immunohistochemistry in the prediction of MLH1 germline mutations. EXPERIMENTAL DESIGN: p16 immunohistochemistry was appropriately evaluated in 79 colorectal cancers with loss of MLH1 expression. Methylation of MLH1 and p16 were quantitatively studied using real-time PCR assay Methylight. BRAF V600E mutation in tumor tissue was also investigated. Genetic testing for germline mutation of MLH1 was made on 52 patients. RESULTS: Loss of p16 expression was seen in 21 of 79 samples (26.6%). There was found statistically significant association between p16 expression and p16 methylation (P < 0.001), MLH1 methylation (P < 0.001), and BRAF mutation (P < 0.005). All tumors with loss of p16 expression showed hypermethylation of p16 (21 of 21), 95.2% (20 of 21) showed MLH1 methylation, and 71.4% (15 of 21) were mutated for BRAF V600E. Mutational analysis showed pathogenic germline mutations in 8 of the patients, harboring 10 tumors. All 10 of these tumors showed normal staining of p16 in the immunochemical analysis. CONCLUSIONS: p16 immunohistochemistry is a good surrogate marker for p16 and MLH1 epigenetic silencing due to hypermethylation, and is useful as screening tool in the selection of patients for genetic testing in Lynch syndrome.

[Speech perception development in children with dyslexia]. / Desarrollo de la percepción del habla en niños con dislexia.

Several studies have indicated that dyslexics show a deficit in speech perception (SP). The main purpose of this research is to determine the development of SP in dyslexics and normal readers paired by grades from 2nd to 6th grade of primary school and to know whether the phonetic contrasts that are relevant for SP change during development, taking into account the individual differences. The achievement of both groups was compared in the phonetic tasks: voicing contrast, place of articulation contrast and manner of articulation contrast. The results showed that the dyslexic performed poorer than the normal readers in SP. In place of articulation contrast, the developmental pattern is similar in both groups but not in voicing and manner of articulation. Manner of articulation has more influence on SP, and its development is higher than the other contrast tasks in both groups.

[Spelling development in the Spanish language]. / Evolución de la escritura de palabras de ortografía arbitraria en lengua española.

This study focused on spelling development in Spanish children from elementary grades. A sample of 1045 was selected from 2nd to 6th grade belonging to four schools in Tenerife Island with an age range between 7 and 12 years old (M = 113.8, SD = 17.6). We administered a standardized writing test that includes diverse subtests to assess spelling, ruled and not ruled, and various written composition tasks (i.e., writing a story based on vignettes, describing a character and writing a story). We calculated the average of correct spellings in each variable and school level, and we also analyzed the type of misspellings that children made across different writing tasks. We found that spelling is acquired by 4th-grade children when it is not ruled, whereas the spelling of ruled words is acquired by 5th-grade children. When we analyzed the misspellings in a dictation task, we found that the children confused spelling of the graphemes c/s/z/x. Across different writing tasks, we found that students committed more misspellings with the graphemes b/v, h y c/s/z/x before they finished the 4th elementary grade.

Desarrollo de la percepción del habla en niños con dislexia / Speech perception development in children with dyslexia

Numerosos estudios han mostrado que los disléxicos presentan déficit de percepción del habla (PH). El objetivo de esta investigación es examinar el desarrollo de la PH en disléxicos y normolectores emparejados por curso de 2º a 6º de Primaria y explorar si los contrastes fonéticos, relevantes para percibir el habla, varían a lo largo del desarrollo en función de las diferencias individuales en lectura. Se comparó el rendimiento de ambos grupos en tareas de discriminación de sonoridad, punto y modo de articulación. Los resultados mostraron que los disléxicos obtuvieron un rendimiento en PH inferior al de los normolectores. El patrón de desarrollo de PH de ambos grupos es similar en punto de articulación, y diferente en sonoridad y modo de articulación. El modo de articulación es lo que tiene más peso en la PH, y muestra un mayor nivel de desarrollo en ambos grupos

Several studies have indicated that dyslexics show a deficit in speech perception (SP). The main purpose of this research is to determine the development of SP in dyslexics and normal readers paired by grades from 2nd to 6th grade of primary school and to know whether the phonetic contrasts that are relevant for SP change during development, taking into account the individual differences. The achievement of both groups was compared in the phonetic tasks: voicing contrast, place of articulation contrast and manner of articulation contrast. The results showed that the dyslexic performed poorer than the normal readers in SP. In place of articulation contrast, the developmental pattern is similar in both groups but not in voicing and manner of articulation. Manner of articulation has more influence on SP, and its development is higher than the other contrast tasks in both groups

Evolución de la escritura de palabras de ortografía arbitraria en lengua española / Spelling development in the Spanish language

El objetivo de este trabajo consistió en estudiar la evolución de la escritura de palabras con ortografía arbitraria en alumnado de Educación Primaria (EP). La muestra estaba compuesta por 1.045 escolares de segundo a sexto curso de EP de 4 centros de la Isla de Tenerife, entre 7 y 12 años de edad (M= 113.8; DT= 17.6). Se les dictaban palabras con ortografía arbitraria, reglada y no reglada, y se les pidió también que realizaran tareas de composición escrita (i.e., escritura de una historia apoyada en viñetas, descripción de un personaje y escritura de un cuento). Se analizaron tanto los aciertos como los errores ortográficos en el dictado y la composición escrita. Los resultados encontrados señalan que la ortografía arbitraria, cuando no es reglada, se adquiere a partir de 4º curso de EP, mientras que la escritura de palabras de ortografía reglada la adquieren a partir de 5º curso de EP. Analizando los errores ortográficos en la escritura al dictado se observó que existía mayor confusión en la escritura de los grafemas c/s/z/x. En las diferentes tareas de composición escrita encontramos que, hasta la finalización del segundo ciclo, los escolares tienden a confundir los grafemas b/v, h y c/s/z/x

This study focused on spelling development in Spanish children from elementary grades. A sample of 1045 was selected from 2nd to 6th grade belonging to four schools in Tenerife Island with an age range between 7 and 12 years old (M= 113.8, SD= 17.6). We administered a standardized writing test that includes diverse subtests to assess spelling, ruled and not ruled, and various written composition tasks (i.e., writing a story based on vignettes, describing a character and writing a story). We calculated the average of correct spellings in each variable and school level, and we also analyzed the type of misspellings that children made across different writing tasks. We found that spelling is acquired by 4th-grade children when it is not ruled, whereas the spelling of ruled words is acquired by 5th-grade children. When we analyzed the misspellings in a dictation task, we found that the children confused spelling of the graphemes c/s/z/x. Across different writing tasks, we found that students committed more misspellings with the graphemes b/v, h y c/s/z/x before they finished the 4th elementary grade

[Effects of Tradislexia videogame on phonological awareness and word recognition in dyslexic children]. / Efectos del videojuego Tradislexia en la conciencia fonológica y reconocimiento de palabras en niños disléxicos.

The purpose of this research was to analyze the effects of multimedia training on phonological awareness and word recognition in dyslexic children. We used a control pretest-posttest design, and a sample of 62 children (26 male, 36 female) was selected from Primary Education. Children were selected and classified into two different groups: (1) an experimental group (N=32), and (2) a control group (N=30). The average range age was 9 and 12 years (M=126.7, SD=11.7). We administered phonological awareness tasks, which include different types of syllabic structure from the Sicole-R Multimedia Battery for assessment of cognitive processes in reading. We analyzed whether the Tradislexia videogame affected phonological awareness, considering separately the complexity of syllable structure and type of phonological awareness task. We also analyzed whether the gains in phonological processes were related to training based on type of task or type of syllable structure. The results showed that when we controlled the position of phoneme, the multimedia treatment in segmentation and blending with words that include CV syllables is a better predictor to explain improvement of word decoding processes.

Efectos del videojuego Tradislexia en la conciencia fonológica y reconocimiento de palabras en niños disléxicos / Effects of Tradislexia videogame on phonological awareness and word recognition in dyslexic children

El objetivo de esta investigación ha consistido en analizar los efectos del videojuego Tradislexia en la conciencia fonológica y reconocimiento de palabras en niños disléxicos. Para ello se utilizó un diseño de grupo control pretest- postest, y se seleccionó una muestra de 62 niños (26 niñas y 36 niños) de segundo y tercer ciclo de Educación Primaria con un rango de edad entre 9 y 12 años (M= 126.7; DT= 11.7). Una vez seleccionados, se asignaron al azar a un grupo Experimental (N= 32) y a un grupo Control (N= 30). Se administraron distintas tareas de conciencia fonológica de la Batería Multimedia Sicole-R que incluían diferentes tipos de estructura silábica. Se analizó si el entrenamiento multimedia contribuye a mejorar los procesos fonológicos teniendo en cuenta el rendimiento alcanzado en función del tipo de tarea y tipo de estructura silábica y si ello contribuye a mejorar el reconocimiento de palabras. Los resultados demuestran que cuando se controla la posición del fonema, el entrenamiento en segmentación y síntesis en palabras con estructura CV predice de forma significativa la mejora en los procesos de reconocimiento de palabras (AU)

The purpose of this research was to analyze the effects of multimedia training on phonological awareness and word recognition in dyslexic children. We used a control pretest-posttest design, and a sample of 62 children (26 male, 36 female) was selected from Primary Education. Children were selected and classified into two different groups: (1) an experimental group (N= 32), and (2) a control group (N= 30). The average range age was 9 and 12 years (M= 126.7, SD= 11.7). We administered phonological awareness tasks, which include different types of syllabic structure from the Sicole-R Multimedia Battery for assessment of cognitive processes in reading. We analyzed whether the Tradislexia videogame affected phonological awareness, considering separately the complexity of syllable structure and type of phonological awareness task. We also analyzed whether the gains in phonological processes were related to training based on type of task or type of syllable structure. The results showed that when we controlled the position of phoneme, the multimedia treatment in segmentation and blending with words that include CV syllables is a better predictor to explain improvement of word decoding processes (AU)