Are Dyslexic People more Creative? Myth or Reality: A Meta-analysis / ¿Son las personas disléxicas más creativas? Mito o realidad: metaanálisis

The claim that people with dyslexia are more creative than people without this learning disorder is widespread. But the complexity of creativity and the way it is measured means that this statement is sometimes inconsistent. The aim of this review is, on the one hand, to explore the relationship between dyslexia and creativity, as well as to analyze the categories of divergent thinking: fluency, originality, abstractness, elaboration, and flexibility. On the other hand, it also aims to identify moderators that may be influencing this relationship, such as age, country, or the test used. We retrieved 13 empirical studies that provided 39 effect sizes. The results show that there are no significant differences between people with and without dyslexia in terms of creativity when considering the construct as a whole. However, a significant relationship between the two constructs is observed when analyzing the categories of divergent thinking isolated.(AU)

La afirmación de que las personas con dislexia son más creativas que las personas sin este trastorno específico del aprendizaje está muy extendida. Pero la complejidad del constructo de creatividad y la forma en que esta se mide, hace que esta afirmación sea contradictoria. El objetivo de esta revisión es doble; por un lado, pretende explorar la relación entre dislexia y creatividad, así como analizar las categorías del pensamiento divergente: fluidez, originalidad, abstracción, elaboración y flexibilidad; por otro, pretende identificar moderadores que puedan estar influyendo en esta relación, como la edad, el país o la prueba utilizada. Se recuperaron trece estudios empíricos, con un total de 39 tamaños de efecto. Los resultados muestran que no existen diferencias significativas en cuanto a la creatividad entre personas con dislexia y sin ella cuando se considera el constructo como un todo. Sin embargo, se observa una relación significativa entre ambos al analizar las categorías de pensamiento divergente de forma aislada.(AU)

No Association Between Polygenic Risk Scores for Cancer and Development of Radiation Therapy Toxicity.

PURPOSE: Our aim was to test whether updated polygenic risk scores (PRS) for susceptibility to cancer affect risk of radiation therapy toxicity. METHODS AND MATERIALS: Analyses included 9,717 patients with breast (n=3,078), prostate (n=5,748) or lung (n=891) cancer from Radiogenomics and REQUITE Consortia cohorts. Patients underwent potentially curative radiation therapy and were assessed prospectively for toxicity. Germline genotyping involved genome-wide single nucleotide polymorphism (SNP) arrays with nontyped SNPs imputed. PRS for each cancer were generated by summing literature-identified cancer susceptibility risk alleles: 352 breast, 136 prostate, and 24 lung. Weighted PRS were generated using log odds ratio (ORs) for cancer susceptibility. Standardized total average toxicity (STAT) scores at 2 and 5 years (breast, prostate) or 6 to 12 months (lung) quantified toxicity. Primary analysis tested late STAT, secondary analyses investigated acute STAT, and individual endpoints and SNPs using multivariable regression. RESULTS: Increasing PRS did not increase risk of late toxicity in patients with breast (OR, 1.000; 95% confidence interval [CI], 0.997-1.002), prostate (OR, 0.99; 95% CI, 0.98-1.00; weighted PRS OR, 0.93; 95% CI, 0.83-1.03), or lung (OR, 0.93; 95% CI, 0.87-1.00; weighted PRS OR, 0.68; 95% CI, 0.45-1.03) cancer. Similar results were seen for acute toxicity. Secondary analyses identified rs138944387 associated with breast pain (OR, 3.05; 95% CI, 1.86-5.01; P = 1.09 × 10-5) and rs17513613 with breast edema (OR, 0.94; 95% CI, 0.92-0.97; P = 1.08 × 10-5). CONCLUSIONS: Patients with increased polygenic predisposition to breast, prostate, or lung cancer can safely undergo radiation therapy with no anticipated excess toxicity risk. Some individual SNPs increase the likelihood of a specific toxicity endpoint, warranting validation in independent cohorts and functional studies to elucidate biologic mechanisms.

Overview of health-related quality of life and toxicity of non-small cell lung cancer patients receiving curative-intent radiotherapy in a real-life setting (the REQUITE study).

OBJECTIVES: Radiotherapy-induced toxicity may negatively impact health-related quality of life (HRQoL). This report investigates the impact of curative-intent radiotherapy on HRQoL and toxicity in early stage and locally-advanced non-small cell lung cancer patients treated with radiotherapy or chemo-radiotherapy enrolled in the observational prospective REQUITE study. MATERIALS AND METHODS: HRQoL was assessed using the European Organisation for Research and Treatment of Cancer QLQ-C30 questionnaire up to 2 years post radiotherapy. Eleven toxicities were scored by clinicians using the Common Terminology Criteria for Adverse Events (CTCAE) version 4. Toxicity scores were calculated by subtracting baseline values. Mixed model analyses were applied to determine statistical significance (p ≤ 0.01). Meaningful clinical important differences (MCID) were determined for changes in HRQoL. Analysis was performed on the overall data, different radiotherapy techniques, multimodality treatments and disease stages. RESULTS: Data of 510 patients were analysed. There was no significant change in HRQoL or its domains, except for deterioration in cognitive functioning (p = 0.01). Radiotherapy technique had no significant impact on HRQoL. The addition of chemotherapy was significantly associated with HRQoL over time (p <.001). Overall toxicity did not significantly change over time. Acute toxicities of radiation-dermatitis (p =.003), dysphagia (p =.002) and esophagitis (p <.001) peaked at 3 months and decreased thereafter. Pneumonitis initially deteriorated but improved significantly after 12 months (p =.011). A proportion of patients experienced meaningful clinically important improvements and deteriorations in overall HRQoL and its domains. In some patients, pre-treatment symptoms improved gradually. CONCLUSIONS: While overall HRQoL and toxicity did not change over time, some patients improved, whereas others experienced acute radiotherapy-induced toxicities and deteriorated HRQoL, especially physical and cognitive functioning. Patient characteristics, more so than radiotherapy technique and treatment modality, impact post-radiotherapy toxicity and HRQoL outcomes. This stresses the importance of considering the potential impact of radiotherapy on individuals' HRQoL, symptoms and toxicity in treatment decision-making.

Postoperative radiotherapy in resected non-small cell lung cancer: The never-ending story.

This manuscript collects in a joint and orderly manner the existing evidence at the present time about postoperative treatment with radiotherapy in non-small cell lung cancer. It also systematically reviews the current evidence, the international recommendations in the most relevant guidelines, the most controversial aspects in clinical and pathological staging, the specific technical aspects of radiotherapy treatment, and also collects all the potential risk factors that have been postulated as significant in the prognosis of these patients, evaluating the possibility of segmenting a particularly sensitive subpopulation with a high risk of relapse on which an adjuvant treatment with radiotherapy could have an impact on their clinical evolution. Finally, currently active trials that aspire to provide more evidence on this topic are reviewed.

Randomized Phase III Trial of Prophylactic Cranial Irradiation With or Without Hippocampal Avoidance for Small-Cell Lung Cancer (PREMER): A GICOR-GOECP-SEOR Study.

PURPOSE: Radiation dose received by the neural stem cells of the hippocampus during whole-brain radiotherapy has been associated with neurocognitive decline. The key concern using hippocampal avoidance-prophylactic cranial irradiation (HA-PCI) in patients with small-cell lung cancer (SCLC) is the incidence of brain metastasis within the hippocampal avoidance zone. METHODS: This phase III trial enrolled 150 patients with SCLC (71.3% with limited disease) to standard prophylactic cranial irradiation (PCI; 25 Gy in 10 fractions) or HA-PCI. The primary objective was the delayed free recall (DFR) on the Free and Cued Selective Reminding Test (FCSRT) at 3 months; a decrease of 3 points or greater from baseline was considered a decline. Secondary end points included other FCSRT scores, quality of life (QoL), evaluation of the incidence and location of brain metastases, and overall survival (OS). Data were recorded at baseline, and 3, 6, 12, and 24 months after PCI. RESULTS: Participants' baseline characteristics were well balanced between the two groups. The median follow-up time for living patients was 40.4 months. Decline on DFR from baseline to 3 months was lower in the HA-PCI arm (5.8%) compared with the PCI arm (23.5%; odds ratio, 5; 95% CI, 1.57 to 15.86; P = .003). Analysis of all FCSRT scores showed a decline on the total recall (TR; 8.7% v 20.6%) at 3 months; DFR (11.1% v 33.3%), TR (20.3% v 38.9%), and total free recall (14.8% v 31.5%) at 6 months, and TR (14.2% v 47.6%) at 24 months. The incidence of brain metastases, OS, and QoL were not significantly different. CONCLUSION: Sparing the hippocampus during PCI better preserves cognitive function in patients with SCLC. No differences were observed with regard to brain failure, OS, and QoL compared with standard PCI.

Adjuvant treatment in lung cancer.

BACKGROUND: Adjuvant treatment for both small-cell and non-small-cell lung cancer is a controversial topic. There are no published results from prospective studies that either confirm or reject the benefit of adjuvant radiotherapy, although the presentation of recent studies at a number of conferences questions whether there should be a change in the paradigm of adjuvant RT for lung cancer. AIM: The main goal of this study is to review the most relevant publications on the topic, updating the state of the matter regarding adjuvant radiotherapy following lung surgery, and analyzing the role of chemotherapy in the process. RELEVANCE FOR PATIENTS: This review aims to assess the potential benefit of PORT in NSCLC and SCLC patients by looking at recent research. In doing so, it will be possible to determine which patients might benefit from it as adjuvant treatment after pulmonary resection.

Validation of Polymorphisms Associated with the Risk of Radiation-Induced Oesophagitis in an Independent Cohort of Non-Small-Cell Lung Cancer Patients.

Several studies have identified single-nucleotide polymorphisms (SNPs) associated with adverse effects in non-small-cell lung cancer (NSCLC) patients treated with radiation therapy. Here, using an independent cohort, we aimed to validate the reported associations. We selected 23 SNPs in 17 genes previously associated with radiation-induced oesophagitis for validation in a cohort of 178 Spanish NSCLC patients. Of them, 18 SNPs were finally analysed, following the methods described in the original published studies. Two SNPs replicated their association with radiation-induced oesophagitis (rs7165790 located in the BLM gene: odds ratio (OR) = 0.16, 95% CI = 0.04-0.65, p-value = 0.010; rs4772468 at FGF14: OR = 4.36, 95% CI = 1.15-16.46, p-value = 0.029). The SNP rs2868371 at HSPB1 was also validated but displayed an opposite effect to the formerly described (OR = 3.72; 95% CI = 1.49-9.25; p-value = 0.004). Additionally, we tested a meta-analytic approach including our results and the previous datasets reported in the referenced publications. Twelve SNPs (including the two previously validated) retained their statistically significant association with radiation-induced oesophagitis. This study strengthens the role of inflammation and DNA double-strand break repair pathways in the risk prediction of developing radiation-induced oesophagitis in NSCLC patients. The validated variants are good candidates to be evaluated in risk prediction models for patient stratification based on their radiation susceptibility.

18- and 70-MHz Ultrasonography of Actinomycetoma of the Foot Correlated with Clinical and Histologic Findings.

We present the ultrasonographic morphology of an actinomycetoma of the foot at 18 and 70 MHz (high-frequency and ultrahigh-frequency ultrasound, respectively), and describe an ultrasonographic sign that may help to discriminate between eumycetoma and actinomycetoma called the "bright hyperechoic halo." To date, this is the first report on the morphology of mycetoma at 70 MHz with a clinical, ultrasonographic, and histologic correlation of the images, which provides ultrasound images that are very similar to the lower magnification of histology.

Detection and dynamics of circulating tumor cells in patients with high-risk prostate cancer treated with radiotherapy and hormones: a prospective phase II study.

BACKGROUND: Circulating tumor cells (CTCs) are an established prognostic marker in castration-resistant prostate cancer but have received little attention in localized high-risk disease. We studied the detection rate of CTCs in patients with high-risk prostate cancer before and after androgen deprivation therapy and radiotherapy to assess its value as a prognostic and monitoring marker. PATIENTS AND METHODS: We performed a prospective analysis of CTCs in the peripheral blood of 65 treatment-naïve patients with high-risk prostate cancer. EpCAM-positive CTCs were enumerated using the CELLSEARCH system at 4 timepoints. A cut off of 0 vs ≥ 1 CTC/7.5 ml blood was defined as a threshold for negative versus positive CTCs status. RESULTS: CTCs were detected in 5/65 patients (7.5%) at diagnosis, 8/62 (12.9%) following neoadjuvant androgen deprivation and 11/59 (18.6%) at the end of radiotherapy, with a median CTC count/7.5 ml of 1 (range, 1-136). Only 1 patient presented a positive CTC result 9 months after radiotherapy. Positive CTC status (at any timepoint) was not significantly associated with any clinical or pathologic factors. However, when we analyzed variations in CTC patterns following treatment, we observed a significant association between conversion of CTCs and stages T3 (P = 0.044) and N1 (P = 0.002). Detection of CTCs was not significantly associated with overall survival (P > 0.40). CONCLUSIONS: Our study showed a low detection rate for CTCs in patients with locally advanced high-risk prostate cancer. The finding of a de novo positive CTC count after androgen deprivation therapy is probably due to a passive mechanism associated with the destruction of the tumor. Further studies with larger samples and based on more accurate detection of CTCs are needed to determine the potential prognostic and therapeutic value of this approach in non-metastatic prostate cancer. TRIAL REGISTRATION: ClinicalTrials.gov ID: NCT01800058.

High-dose neoadjuvant chemoradiotherapy versus chemotherapy alone followed by surgery in potentially-resectable stage IIIA-N2 NSCLC. A multi-institutional retrospective study by the Oncologic Group for the Study of Lung Cancer (Spanish Radiation Oncology Society).

BACKGROUND: The optimal induction treatment in potentially-resectable stage IIIA-N2 NSCLC remains undefined. AIM: To compare neoadjuvant high-dose chemoradiotherapy (CRT) to neoadjuvant chemotherapy (CHT) in patients with resectable, stage IIIA-N2 non-small-cell lung cancer (NSCLC). METHODS: Retrospective, multicentre study of 99 patients diagnosed with stage cT1-T3N2M0 NSCLC who underwent neoadjuvant treatment (high-dose CRT or CHT) followed by surgery between January 2005 and December 2014. RESULTS: 47 patients (47.5%) underwent CRT and 52 (52.5%) CHT, with a median follow-up of 41 months. Surgery consisted of lobectomy (87.2% and 82.7%, in the CRT and CHT groups, respectively) or pneumonectomy (12.8% vs. 17.3%). Nodal downstaging (to N1/N0) and Pathologic complete response (pCR; pT0pN0) rates were significantly higher in the CRT group (89.4% vs. 57.7% and 46.8% vs. 7.7%, respectively; p < 0.001)). Locoregional recurrence was significantly lower in the CRT group (8.5% vs. 13.5%; p = 0.047) but distant recurrence rates were similar in the two groups. Median PFS was 45 months (CHT) vs. "not reached" (CRT). Median OS was similar: 61 vs. 56 months (p = 0.803). No differences in grade ≥3 toxicity were observed. On the Cox regression analysis, advanced pT stage was associated with worse OS and PFS (p < 0.001) and persistent N2 disease (p = 0.002) was associated with worse PFS. CONCLUSIONS: Compared to neoadjuvant chemotherapy alone, a higher proportion of patients treated with preoperative CRT achieved nodal downstaging and pCR with better locoregional control. However, there were no differences in survival. More studies are needed to know the optimal treatment of these patients.

REQUITE: A prospective multicentre cohort study of patients undergoing radiotherapy for breast, lung or prostate cancer.

PURPOSE: REQUITE aimed to establish a resource for multi-national validation of models and biomarkers that predict risk of late toxicity following radiotherapy. The purpose of this article is to provide summary descriptive data. METHODS: An international, prospective cohort study recruited cancer patients in 26 hospitals in eight countries between April 2014 and March 2017. Target recruitment was 5300 patients. Eligible patients had breast, prostate or lung cancer and planned potentially curable radiotherapy. Radiotherapy was prescribed according to local regimens, but centres used standardised data collection forms. Pre-treatment blood samples were collected. Patients were followed for a minimum of 12 (lung) or 24 (breast/prostate) months and summary descriptive statistics were generated. RESULTS: The study recruited 2069 breast (99% of target), 1808 prostate (86%) and 561 lung (51%) cancer patients. The centralised, accessible database includes: physician- (47,025 forms) and patient- (54,901) reported outcomes; 11,563 breast photos; 17,107 DICOMs and 12,684 DVHs. Imputed genotype data are available for 4223 patients with European ancestry (1948 breast, 1728 prostate, 547 lung). Radiation-induced lymphocyte apoptosis (RILA) assay data are available for 1319 patients. DNA (n = 4409) and PAXgene tubes (n = 3039) are stored in the centralised biobank. Example prevalences of 2-year (1-year for lung) grade ≥2 CTCAE toxicities are 13% atrophy (breast), 3% rectal bleeding (prostate) and 27% dyspnoea (lung). CONCLUSION: The comprehensive centralised database and linked biobank is a valuable resource for the radiotherapy community for validating predictive models and biomarkers. PATIENT SUMMARY: Up to half of cancer patients undergo radiation therapy and irradiation of surrounding healthy tissue is unavoidable. Damage to healthy tissue can affect short- and long-term quality-of-life. Not all patients are equally sensitive to radiation "damage" but it is not possible at the moment to identify those who are. REQUITE was established with the aim of trying to understand more about how we could predict radiation sensitivity. The purpose of this paper is to provide an overview and summary of the data and material available. In the REQUITE study 4400 breast, prostate and lung cancer patients filled out questionnaires and donated blood. A large amount of data was collected in the same way. With all these data and samples a database and biobank were created that showed it is possible to collect this kind of information in a standardised way across countries. In the future, our database and linked biobank will be a resource for research and validation of clinical predictors and models of radiation sensitivity. REQUITE will also enable a better understanding of how many people suffer with radiotherapy toxicity.

La calidad del sueño en el adulto mayor: estudio de una cohorte / The quality of sleep in the older adult: cohort study

Objetivo: El objetivo del presente estudio fue determinar qué factores y hábitos influyen de forma negativa en la calidad del sueño en el adulto mayor. Métodos: Se realizó un estudio observacional transversal sobre 30 pacientes mayores de 65 años. Todos ellos rellenaron un cuestionario acerca de la calidad de su sueño. Se analizaron las siguientes variables: roncopatía, apnea del sueño, hábito tabáquico, ingesta de alcohol, obesidad, bruxismo, hipertensión arterial, enfermedad cardiovascular y/o cerebrovascular, reflujo gastroesofágico (ERGE) y puntuación en el Cuestionario de somnolencia diurna de Epworth. Resultados: La mitad de los pacientes afirmó tener un sueño de mala calidad (grupo 1), mientras que la otra mitad afirmó descansar bien (grupo 2). En el grupo 1 había más pacientes con roncopatía, apnea del sueño, obesidad, bruxismo, ERGE y con afecciones cardíacas o cerbrovasculares. Este grupo además obtuvo una puntuación superior en el Cuestionario de Epworth. Se encontró un número mayor de pacientes fumadores e hipertensos en el grupo 2, además de ingerir una media de vasos de alcohol semanales superior. Conclusiones: El bruxismo y el sobrepeso son factores de riesgo asociados a un sueño de mala calidad en pacientes mayores de 65 años. Por otro lado, patologías como la Hipertensión Arterial, las enfermedades cardio y cerebrovasculares, el Reflujo Gastroesofágico y la Apnea del Sueño no parecen estar en asociación con un sueño deficiente, del mismo modo que los hábitos tabáquico y alcohólico y la roncopatía

Objective: The objective of this study was to determine which pathologies and habits negatively influence the quality of sleep of the elderly. Methods: A cross-sectional observational study was conducted on 30 patients older than 65 years. They all filled out a questionnaire about the quality of their sleep. The following variables were analyzed: snoring, sleep apnea, smoking, alcohol intake, obesity, bruxism, hypertension, cardiovascular and / or cerebrovascular disease, gastroesophageal reflux (GERD) and score in the Epworth Sleepines Scale. Results: Half of the patients claimed to have poor quality sleep (group 1), while the other half reported a good rest (group 2). In group 1, there were more patients with roncopathy, sleep apnea, obesity, bruxism, GERD, and heart or cerebrovascular disease. This group also scored higher on the Epworth Scale. A greater number of smoking and hypertensive patients was found in group 2, in addition to ingesting an average of higher weekly alcohol glasses. Conclusions: Bruxism and overweight are risk factors associated with poor quality of sleep in patients over 65 years old. On the other hand, pathologies such as arterial hypertension, cardio and cerebrovascular diseases, Gastroesophageal Reflux and Sleep Apnea do not seem to be associated with poor sleep, in the same way as smoking and alcoholic habits and snoring

Engineering Pichia pastoris for the Production of Carotenoids.

Carotenoids are one of the most diverse and widely distributed classes of pigments in the biosphere and exhibit a variety of functions in the nature. Their importance and biotechnological applications are higher and higher, but their sources are not increasing in the same exponential way. Here we describe the process of bioengineering the yeast Pichia pastoris by sequential transformation to get an astaxanthin producer.

Combination of cGMP analogue and drug delivery system provides functional protection in hereditary retinal degeneration.

Inherited retinal degeneration (RD) is a devastating and currently untreatable neurodegenerative condition that leads to loss of photoreceptor cells and blindness. The vast genetic heterogeneity of RD, the lack of "druggable" targets, and the access-limiting blood-retinal barrier (BRB) present major hurdles toward effective therapy development. Here, we address these challenges (i) by targeting cGMP (cyclic guanosine- 3',5'-monophosphate) signaling, a disease driver common to different types of RD, and (ii) by combining inhibitory cGMP analogs with a nanosized liposomal drug delivery system designed to facilitate transport across the BRB. Based on a screen of several cGMP analogs we identified an inhibitory cGMP analog that interferes with activation of photoreceptor cell death pathways. Moreover, we found liposomal encapsulation of the analog to achieve efficient drug targeting to the neuroretina. This pharmacological treatment markedly preserved in vivo retinal function and counteracted photoreceptor degeneration in three different in vivo RD models. Taken together, we show that a defined class of compounds for RD treatment in combination with an innovative drug delivery method may enable a single type of treatment to address genetically divergent RD-type diseases.

Differences in Growth Reading Patterns for at-Risk Spanish-Monolingual Children as a Function of a Tier 2 Intervention.

The present study compares the patterns of growth of beginning reading skills (i.e., phonemic awareness, phonics, fluency, vocabulary and comprehension) of Spanish speaking monolingual students who received a Tier 2 reading intervention with students who did not receive the intervention. All the students in grades K-2 were screened at the beginning of the year to confirm their risk status. A quasi-experimental longitudinal design was used: the treatment group received a supplemental program in small groups of 3 to 5 students, for 30 minutes daily from November to June. The control group did not receive it. All students were assessed three times during the academic year. A hierarchical linear growth modeling was conducted and differences on growth rate were found in vocabulary in kindergarten (p < .001; variance explained = 77.0%), phonemic awareness in kindergarten (p < .001; variance explained = 43.7%) and first grade (p < .01; variance explained = 15.2%), and finally we also find significant growth differences for second grade in oral reading fluency (p < .05; variance explained = 15.1%) and retell task (p < .05; variance explained = 14.5%). Children at risk for reading disabilities in Spanish can improve their skills when they receive explicit instruction in the context of Response to Intervention (RtI). Findings are discussed for each skill in the context of implementing a Tier 2 small group intervention within an RtI approach. Implications for practice in the Spanish educational context are also discussed for children who are struggling with reading.

Differences in growth reading patterns for at-risk Spanish-monolingual children as a function of a tier 2 Intervention

The present study compares the patterns of growth of beginning reading skills (i.e., phonemic awareness, phonics, fluency, vocabulary and comprehension) of Spanish speaking monolingual students who received a Tier 2 reading intervention with students who did not receive the intervention. All the students in grades K-2 were screened at the beginning of the year to confirm their risk status. A quasi-experimental longitudinal design was used: the treatment group received a supplemental program in small groups of 3 to 5 students, for 30 minutes daily from November to June. The control group did not receive it. All students were assessed three times during the academic year. A hierarchical linear growth modeling was conducted and differences on growth rate were found in vocabulary in kindergarten (p < .001; variance explained = 77.0%), phonemic awareness in kindergarten (p < .001; variance explained = 43.7%) and first grade (p < .01; variance explained = 15.2%), and finally we also find significant growth differences for second grade in oral reading fluency (p < .05; variance explained = 15.1%) and retell task (p < .05; variance explained = 14.5%). Children at risk for reading disabilities in Spanish can improve their skills when they receive explicit instruction in the context of Response to Intervention (RtI). Findings are discussed for each skill in the context of implementing a Tier 2 small group intervention within an RtI approach. Implications for practice in the Spanish educational context are also discussed for children who are struggling with reading (AU)

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Writing an Independently Composed Sentence by Spanish-Speaking Children With and Without Poor Transcription Skills: A Writing-Level Match Design.

The main objective of this research was to analyze the impact of transcription skills of Spanish writers when writing an independently composed sentence within a writing-level design. The free-writing sentence task from the Early Grade Writing Assessment (Jiménez, in press) was used to examine the production, accuracy, speed, syntactic complexity, quality, and fluency of children with poor transcription skills (PTS). The results showed that there were significant differences between children with PTS and peers who had good transcription skills. The PTS group members were less accurate, slower, and less fluent or even dysfluent. Furthermore, their sentences were less complex and contained lower quality content. These results suggest that transcription skills play a crucial role in early written expression in Spanish, and poor transcription abilities hamper the acquisition and normal development of sentence composition.

Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene.

PURPOSE: To describe genotype and phenotype in a family with autosomal recessive retinitis pigmentosa (arRP) carrying homozygous mutations in the gene for the α-subunit of cyclic guanosine monophosphate (cGMP)-hydrolyzing phosphodiesterase 6 (PDE6A). Moreover, to compare their plasma cGMP levels to controls, exploring the possible role for cGMP in RP diagnostics. METHODS: Seven siblings and their parents were recruited. Microarray, verified by Sanger sequencing, was used for genotyping. Investigations included slit lamp and fundus examination, Goldmann perimetry, full-field and multifocal electroretinography (ERG), and optical coherence tomography (OCT). Cyclic GMP was measured with an immunoassay kit. RESULTS: All siblings and their father were homozygous, and the mother heterozygous, for IVS6+1G>A in PDE6A. Seven family members also carried c1532G>A in ABCA4. Visual fields were constricted with mere central remnants in older subjects and additional temporal crescents in younger subjects. Visual acuity ranged from 0.8 to amaurosis. Full-field ERGs showed extinguished rod responses and minimal cone responses. Multifocal ERGs were severely reduced. Optical coherence tomography revealed either general attenuation or central macular edema. Mean plasma cGMP in patients was approximately twice that in controls. CONCLUSIONS: To our knowledge, this is the first phenotypic description of arRP due to homozygous IVS6+1G>A mutations in PDE6A and these seem here to be associated with severe RP leading to early extinction of rod responses as well as reduced macular function. Additionally, patients showed increased plasma levels of cGMP, indicating a possible role for cGMP measurements as part of the clinical tests for this and, after further investigations, maybe other forms of RP.

Influence of extracellular matrix components on the expression of integrins and regeneration of adult retinal ganglion cells.

PURPOSE: Retinal ganglion cells (RGCs) are exposed to injury in a variety of optic nerve diseases including glaucoma. However, not all cells respond in the same way to damage and the capacity of individual RGCs to survive or regenerate is variable. In order to elucidate factors that may be important for RGC survival and regeneration we have focussed on the extracellular matrix (ECM) and RGC integrin expression. Our specific questions were: (1) Do adult RGCs express particular sets of integrins in vitro and in vivo? (2) Can the nature of the ECM influence the expression of different integrins? (3) Can the nature of the ECM affect the survival of the cells and the length or branching complexity of their neurites? METHODS: Primary RGC cultures from adult rat retina were placed on glass coverslips treated with different substrates: Poly-L-Lysine (PL), or PL plus laminin (L), collagen I (CI), collagen IV (CIV) or fibronectin (F). After 10 days in culture, we performed double immunostaining with an antibody against ßIII-Tubulin to identify the RGCs, and antibodies against the integrin subunits: αV, α1, α3, α5, ß1 or ß3. The number of adhering and surviving cells, the number and length of the neurites and the expression of the integrin subunits on the different substrates were analysed. RESULTS: PL and L were associated with the greatest survival of RGCs while CI provided the least favourable conditions. The type of substrate affected the number and length of neurites. L stimulated the longest growth. We found at least three different types of RGCs in terms of their capacity to regenerate and extend neurites. The different combinations of integrins expressed by the cells growing on different substrata suggest that RGCs expressed predominantly α1ß1 or α3ß1 on L, α1ß1 on CI and CIV, and α5ß3 on F. The activity of the integrins was demonstrated by the phosphorylation of focal adhesion kinase (FAK). CONCLUSIONS: Adult rat RGCs can survive and grow in the presence of different ECM tested. Further studies should be done to elucidate the different molecular characteristics of the RGCs subtypes in order to understand the possible different sensitivity of different RGCs to damage in diseases like glaucoma in which not all RGCs die at the same time.