Transfers of Care between Healthcare Professionals in Obstetric Units of Different Sizes across Spain and in a Hospital in Ireland: The MidconBirth Study.

BACKGROUND: In Europe, the majority of healthy women give birth at conventional obstetric units with the assistance of registered midwives. This study examines the relationships between the intrapartum transfer of care (TOC) from midwife to obstetrician-led maternity care, obstetric unit size (OUS) with different degrees of midwifery autonomy, intrapartum interventions and birth outcomes. METHODS: A prospective, multicentre, cross-sectional study promoted by the COST Action IS1405 was carried out at eight public hospitals in Spain and Ireland between 2016-2019. The primary outcome was TOC. The secondary outcomes included type of onset of labour, oxytocin stimulation, epidural analgesia, type of birth, episiotomy/perineal injury, postpartum haemorrhage, early initiation of breastfeeding and early skin-to-skin contact. A logistic regression was performed to ascertain the effects of studied co-variables on the likelihood that participants had a TOC; Results: Out of a total of 2,126 low-risk women, those whose intrapartum care was initiated by a midwife (1772) were selected. There were statistically significant differences between TOC and OUS (S1 = 29.0%, S2 = 44.0%, S3 = 52.9%, S4 = 30.2%, p < 0.001). Statistically differences between OUS and onset of labour, oxytocin stimulation, type of birth and episiotomy or perineal injury were observed (p = 0.009, p < 0.001, p < 0.001, p < 0.001 respectively); Conclusions: Findings suggest that the model of care and OUS have a significant effect on the prevalence of intrapartum TOC and the birth outcomes. Future research should examine how models of care differ as a function of the OUS in a hospital, as well as the cost-effectiveness for the health care system.

Manejo del absceso de la glándula tiroides / Management of thyroid gland abscess

Introducción: La enfermedad supurativa de la glándula tiroides-absceso de tiroides o tiroiditis supurativa aguda- supone una infrecuente situación clínica. Presentamos nuestra experiencia en los casos asistidos durante 41 años. Materiales y métodos: Estudio longitudinal retrospectivo anotando características epidemiológicas, conducta diagnóstico-terapéutica y resultado clínico, detectando 14 casos -9 varones y 5 mujeres, entre 19 y 68 años, con una media de edad de 40,6 ± 15,4 años- con 22 episodios. En 2 pacientes la condición se había reproducido hasta en 4 ocasiones. Resultados: Supusieron el 0,29% de todos los abscesos cervicales atendidos. La punción-aspiración fue efectuada en 13 de ellos para su tratamiento e identificación del agente causal. Los agentes más habitualmente implicados fueron Mycobacterium tuberculosis y Staphylococcus aureus. Se realizó un estudio de imagen mediante ecografía en 9 casos y de tomografía computarizada en 7. En 10 pacientes el tratamiento definitivo fue quirúrgico, efectuándose drenaje del absceso en 7 de ellos, tiroidectomía total en 4 y hemitiroidectomía en 2. Otros tratamientos admitidos fueron la antibioterapia sistémica o mediante irrigación intralesional y la esclerosis. Aunque en un caso la fase aguda comenzó con hipertiroidismo y tirotoxicosis, a los 6 meses del alta existió hipotiroidismo definitivo en 5 casos. Las opciones terapéuticas adoptadas consiguieron la curación en el 100% de los casos. Conclusión: La supuración de la glándula tiroidea es una circunstancia extremadamente rara en el contexto de la enfermedad cervical, variando las opciones terapéuticas desde alternativas conservadoras al drenaje con tiroidectomía según los hallazgos microbiológicos y radiológicos

Background: Thyroid abscess or acute suppurative thyroiditis is an unusual clinical condition. We present our experience with cases attended over 41 years. Materials and methods: A retrospective study was performed on these patients reviewing their epidemiological characteristics and the diagnostic and therapeutic manoeuvres chosen for them all, as well as their clinical outcome. A group of 9 males and 5 females was studied, with ages ranging from 19 to 68 (mean of 40.6±15.4). These patients suffered 22 acute episodes, and 2 patients each had 4 episodes. Results: Suppurative thyroiditis comprised 0.29% of the neck abscesses. Fine needle aspiration was performed in 13 cases to evacuate the collection and isolate the aetiological agent. Mycobacterium tuberculosis and Staphylococcus aureus were the most frequently identified. Nine patients underwent ultrasound and 7 computed tomography imaging studies. Surgery was the option for 10 patients, including drainage for 7, thyroidectomy for 4 and hemithyroidectomy for the remaining 2. Systemic or intralesional antibiotics and sclerosis of the gland were also carried out. Although one case presented with hyperthyroidism and thyrotoxicosis in the acute phase, definitive hypothyroidism was observed in 5 patients at 6 months following discharge. The rate of success was 100%. Conclusion: Thyroid gland suppuration is a very infrequent circumstance in neck pathology, and the options for its treatment are varied, from conservative to invasive techniques according to the microbial and radiologic findings

Management of thyroid gland abscess. / Manejo del absceso de la glándula tiroides.

BACKGROUND: Thyroid abscess or acute suppurative thyroiditis is an unusual clinical condition. We present our experience with cases attended over 41 years. MATERIALS AND METHODS: A retrospective study was performed on these patients reviewing their epidemiological characteristics and the diagnostic and therapeutic manoeuvres chosen for them all, as well as their clinical outcome. A group of 9 males and 5 females was studied, with ages ranging from 19 to 68 (mean of 40.6±15.4). These patients suffered 22 acute episodes, and 2 patients each had 4 episodes. RESULTS: Suppurative thyroiditis comprised 0.29% of the neck abscesses. Fine needle aspiration was performed in 13 cases to evacuate the collection and isolate the aetiological agent. Mycobacterium tuberculosis and Staphylococcus aureus were the most frequently identified. Nine patients underwent ultrasound and 7 computed tomography imaging studies. Surgery was the option for 10 patients, including drainage for 7, thyroidectomy for 4 and hemithyroidectomy for the remaining 2. Systemic or intralesional antibiotics and sclerosis of the gland were also carried out. Although one case presented with hyperthyroidism and thyrotoxicosis in the acute phase, definitive hypothyroidism was observed in 5 patients at 6 months following discharge. The rate of success was 100%. CONCLUSION: Thyroid gland suppuration is a very infrequent circumstance in neck pathology, and the options for its treatment are varied, from conservative to invasive techniques according to the microbial and radiologic findings.

Hipo. Actitud en otorrinolaringología en pacientes que consultan. Aproximación diagnóstica y terapéutica / Hiccups. Attitude in otorhinolaryngology towards consulting patients. A diagnostic and therapeutic approach

Introducción. Las crisis de hipo suelen ser autolimitadas y benignas, pero los episodios prolongados alteran la calidad de vida y requieren asistencia, ya que existen causas identificables que el otorrinolaringólogo debe conocer para su diagnóstico y tratamiento. Su manifestación última es un ruido glótico espasmódico con alteraciones cervicales características. Pacientes y métodos. Desde 1979 se revisaron todos los casos que consultaron por hipo persistente o recidivante, anotando cronobiología, patología concomitante, resultados de las exploraciones, tratamiento y respuestas al mismo. Resultados. Se asistieron 37 pacientes con una edad media de 45,5±13,5 años, de los cuales 30 eran varones; 23 pacientes (el 62%) presentaron hipo persistente. En 24 casos (el 65%) se evidenció una causa potencialmente asociable: enfermedades del esófago en 14 —la mayoría reflujo gastroesofágico— y en 8 se apreció o descubrió patología oncológica concomitante. Solo 3 casos fueron intervenidos como resultado de los hallazgos efectuados. Los protocolos de tratamiento incluyeron metoclopramida en 18 sujetos, clorpromazina en 17 y baclofeno en 13, pero también carbamazepina o haloperidol. Se empleó neuroestimulación del nervio frénico en 6 pacientes. El hipo desapareció en 32 casos. De los 22 sujetos en los que se pudo efectuar seguimiento, se constató recidiva en 5 —precisando por ello nuevas terapias— y 11 fallecieron. Conclusiones. El hipo crónico implica un reto multidisciplinar con potencial afectación en cabeza y cuello, una sistemática diagnóstica de descarte, frecuente patología de base esofágica y una incidencia de neoplasia maligna alta. Los agentes procinéticos y neurolépticos con efecto antidopaminérgico y anticolinérgico suponen la base del tratamiento (AU)

Introduction. Hiccup crises are generally benign and self-limiting, but longer episodes affect quality of life and must be treated. There are recognisable causes that otorhinolaryngologists must know and be aware for diagnosis and therapeutic alternatives. The main expression is a spasmodic glottic noise with characteristic neck alterations. Patients and methods. This was a retrospective study from 1979 with patients suffering persistent or recurrent hiccups. Chronobiology, comorbidity, findings from explorations, therapies and outcomes were noted. Thirty-seven patients were studied (mean age, 45.5±13.5 years; 30 males), with persistent hiccups in 23 (62%). Results. A potential associated aetiology was observed in 24 cases (65%): oesophageal disorders —mainly gastroesophageal reflux— were detected in 14 cases and concomitant oncological disease was found in 8. Only 3 cases were admitted for surgery due to these findings. Therapeutic strategies with metoclopramide were used in 18 subjects, chlorpromazine in 17 and baclofen in 13, while carbamazepine or haloperidol were used in a minority. Phrenic nerve stimulation was employed in 6 patients. Hiccups disappeared in 32 cases. Out of 22 cases for which follow-up was possible, the hiccups recurred in 5 subjects (the subjects requiring new therapies) and 11 patients died. Conclusions. Chronic hiccup represents a multidisciplinary challenge that includes potential head and neck affection, a diagnostic schedule for ruling out causes, frequent base oesophageal alterations and high incidence of malignant neoplasm. Prokinetic and neuroleptic agents with antidopaminergic and anticholinergic effects are the pillars of its treatment (AU)

Hiccups. Attitude in Otorhinolaryngology Towards Consulting Patients. A Diagnostic and Therapeutic Approach. / Hipo. Actitud en otorrinolaringología en pacientes que consultan. Aproximación diagnóstica y terapéutica.

INTRODUCTION: Hiccup crises are generally benign and self-limiting, but longer episodes affect quality of life and must be treated. There are recognisable causes that otorhinolaryngologists must know and be aware for diagnosis and therapeutic alternatives. The main expression is a spasmodic glottic noise with characteristic neck alterations. PATIENTS AND METHODS: This was a retrospective study from 1979 with patients suffering persistent or recurrent hiccups. Chronobiology, comorbidity, findings from explorations, therapies and outcomes were noted. Thirty-seven patients were studied (mean age, 45.5±13.5 years; 30 males), with persistent hiccups in 23 (62%). RESULTS: A potential associated aetiology was observed in 24 cases (65%): oesophageal disorders -mainly gastroesophageal reflux- were detected in 14 cases and concomitant oncological disease was found in 8. Only 3 cases were admitted for surgery due to these findings. Therapeutic strategies with metoclopramide were used in 18 subjects, chlorpromazine in 17 and baclofen in 13, while carbamazepine or haloperidol were used in a minority. Phrenic nerve stimulation was employed in 6 patients. Hiccups disappeared in 32 cases. Out of 22 cases for which follow-up was possible, the hiccups recurred in 5 subjects (the subjects requiring new therapies) and 11 patients died. CONCLUSIONS: Chronic hiccup represents a multidisciplinary challenge that includes potential head and neck affection, a diagnostic schedule for ruling out causes, frequent base oesophageal alterations and high incidence of malignant neoplasm. Prokinetic and neuroleptic agents with antidopaminergic and anticholinergic effects are the pillars of its treatment.

EPA guidance on mental health and economic crises in Europe.

This European Psychiatric Association (EPA) guidance paper is a result of the Working Group on Mental Health Consequences of Economic Crises of the EPA Council of National Psychiatric Associations. Its purpose is to identify the impact on mental health in Europe of the economic downturn and the measures that may be taken to respond to it. We performed a review of the existing literature that yields 350 articles on which our conclusions and recommendations are based. Evidence-based tables and recommendations were developed through an expert consensus process. Literature dealing with the consequences of economic turmoil on the health and health behaviours of the population is heterogeneous, and the results are not completely unequivocal. However, there is a broad consensus about the deleterious consequences of economic crises on mental health, particularly on psychological well-being, depression, anxiety disorders, insomnia, alcohol abuse, and suicidal behaviour. Unemployment, indebtedness, precarious working conditions, inequalities, lack of social connectedness, and housing instability emerge as main risk factors. Men at working age could be particularly at risk, together with previous low SES or stigmatized populations. Generalized austerity measures and poor developed welfare systems trend to increase the harmful effects of economic crises on mental health. Although many articles suggest limitations of existing research and provide suggestions for future research, there is relatively little discussion of policy approaches to address the negative impact of economic crises on mental health. The few studies that addressed policy questions suggested that the development of social protection programs such as active labour programs, social support systems, protection for housing instability, and better access to mental health care, particularly at primary care level, is strongly needed.

Factores relacionados al dolor postamigdalectomía en adultos / Factors related to post-tonsillectomy pain in adults

Objetivo: Valoración de factores relativos a la anatomía faríngea y a la técnica quirúrgica como posible causa de dolor postamigdalectomía. Material y métodos: Estudio longitudinal prospectivo sobre 42 pacientes amigdalectomizados mediante disección con bisturí frío y monopolar, cuantificando los tiempos quirúrgicos y de empleo de electrobisturí, tamaño amigdalar, el dolor postoperatorio mediante escala analógica visual (EAV) y test de 40 ítems (QoR-40) y sus secuelas en la tolerancia oral, pérdida de peso y la estancia hospitalaria. Las correlaciones entre variables cuantitativas se establecieron mediante coeficientes de regresión lineal. Resultados: La amigdalectomía duró 22,66 ± 7,07 minutos, retirando amígdalas con un volumen medio de 6.046,07 ± 3.866,20 mm3 y empleando electrocauterio 66,14 ± 37,77 segundos para aplicar 1.984,24± 1.133,32 julios por paciente. El Mallampatti más frecuente se estadió en los estadios 2 y 3, y el tamaño amigdalar fue mayoritariamente entre 2-3. La EAV se elevó y el índice QoR-40 descendió a las 24 horas y a los 7 días de forma estadísticamente no significativa. La cantidad de julios administrados fue la variable que mejor se correlacionó con el malestar medido en las escalas, los requerimientos de analgesia y corticoides, la pérdida de peso y la estancia hospitalaria. El dolor fue más acusado entre sujetos en los que existió manipulación quirúrgica de tejido periamigdalino. Conclusiones: La mejoría en el empleo de las técnicas de electrodisección con aplicaciones más limitadas y focalizadas de energía y la preservación de la mucosa periamigdalar son factores que podrían aliviar el nivel de dolor postamigdalectomía (AU)

Objective: Assessment of factors related to pharyngeal anatomy and surgical technique as possible causes of post-tonsillectomy pain. Materials and methods: This was a prospective observational study that included 42 patients undergoing tonsillectomy with cold and monopolar electric device dissection. We recorded duration of the entire operation, duration of electrocautery use, tonsil size and postoperative pain and discomfort assessed using a visual analogue scale (VS) and a 40-item questionnaire (QoR-40, Quality of Recovery), along with sequelae on returning to normal diet, weight loss and hospital stay. Correlations among quantitative variables were obtained by mean of lineal regression coefficients. Results: Duration of surgery was 22.66 ± 7.07 minutes, removing tonsils with a volume of 6046.07 ± 3866.20 mm3 and an electrocautery use time of 66.14 ± 37.77 seconds, applying 1984.24 ± 1133.32 joules per patient. The most frequently observed Mallampati classification and tonsil size scores were stages II and III. The VS score increased and QoR-40 decreased at 24 hours and 7 days, but differences were statistically non-significant. Joule amount used for electrocautery was the parameter that correlated the best with discomfort status as measured via assessment scores, analgesic and corticosteroid requirements, weight loss and hospital stay. Pain was higher in subjects submitted to peritonsillar surgical aggression. Conclusions: Improved use of electrodissection techniques, limiting and focusing the application of its energy, and preservation of peritonsillar mucosa are factors that may lower post-tonsillectomy pain levels (AU)

Factors related to post-tonsillectomy pain in adults.

OBJECTIVE: Assessment of factors related to pharyngeal anatomy and surgical technique as possible causes of post-tonsillectomy pain. MATERIALS AND METHODS: This was a prospective observational study that included 42 patients undergoing tonsillectomy with cold and monopolar electric device dissection. We recorded duration of the entire operation, duration of electrocautery use, tonsil size and postoperative pain and discomfort assessed using a visual analogue scale (VS) and a 40-item questionnaire (QoR-40, Quality of Recovery), along with sequelae on returning to normal diet, weight loss and hospital stay. Correlations among quantitative variables were obtained by mean of lineal regression coefficients. RESULTS: Duration of surgery was 22.66 ± 7.07 minutes, removing tonsils with a volume of 6046.07 ± 3866.20 mm(3) and an electrocautery use time of 66.14 ± 37.77 seconds, applying 1984.24 ± 1133.32 joules per patient. The most frequently observed Mallampati classification and tonsil size scores were stages II and III. The VS score increased and QoR-40 decreased at 24 hours and 7 days, but differences were statistically non-significant. Joule amount used for electrocautery was the parameter that correlated the best with discomfort status as measured via assessment scores, analgesic and corticosteroid requirements, weight loss and hospital stay. Pain was higher in subjects submitted to peritonsillar surgical aggression. CONCLUSIONS: Improved use of electrodissection techniques, limiting and focusing the application of its energy, and preservation of peritonsillar mucosa are factors that may lower post-tonsillectomy pain levels.

Changing trends in hospitalization rates associated with psychosis: Spain, 1980-2009.

PURPOSE: To analyze the prevalence of hospitalization attributable to psychosis in Spain over the last three decades. METHODS: Longitudinal analysis (1980-2009) of age-adjusted hospital discharges rates associated with psychosis (ICD9 290-8) in all Spanish hospitals. DATA SOURCE: Spanish Hospital Morbidity Survey. RESULTS: The hospitalization rate associated with psychotic episodes had been gradually increasing since 1980 until 2004; an abrupt turnaround observed in 2004 marks the beginning of a steady decline in the rate. The turning point described is not observed for each of the psychotic diagnoses separately analyzed. However, it is clearly seen when data are grouped in diagnosis-related groups (organic-psychosis, functional psychosis and substance-induced psychosis) since the time course of the diseases within the major diagnostic groups are interrelated as evidenced by shared turning points which collectively display a common time course pattern. Main hospital indicators and antipsychotic drug prescriptions were analyzed for any possible turning point in mid-2000s. Psychiatric hospital beds and length of stays remained stable by 2004; the hospitalizations associated with non-psychotic psychiatric pathologies show no turning point in 2004. However, an abrupt change on antipsychotic drug prescriptions is precisely observed in 2004. CONCLUSIONS: After decades of linear growth, hospitalizations for psychotic patients begin to decline in 2004, coinciding with the start of last generation atypical antipsychotic drug consumption in Spain. Some of the psychotic diagnostic rates evolve in an interrelated manner which calls into question the diagnosis and nosological boundaries between some of these pathologies.

Use of nanoclay platelets in food packaging materials: technical and cytotoxicity approach.

Two organo-modified clays for food contact applications were developed to produce hydrophobically modified montmorillonite and hence to obtain better compatibility between the biopolymer and the filler (nanoclay). These nanofillers were characterised by Fourier transform infrared (FTIR) spectroscopy, X-ray diffraction and thermogravimetric analysis (TGA) in order to study their composition, structure and thermal stability. The fillers were used to reinforce polylactic acid (PLA) bottles, which were characterised using different techniques such as mechanical and barrier properties, morphology and thermal stability. The results were compared with conventional PLA bottles. The use of the modified clay in PLA bottles was found to lead to an improvement in mechanical and barrier properties. Finally, cytotoxicity tests were carried out with the organo-modified clays using Caco-2 and HepG2 cell lines, with uptake of neutral red as a basal cytotoxicity biomarker.

SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.

One hundred and forty-six index patients with 46,XY DSD in whom gonads were confirmed as testes were consecutively studied for a molecular diagnosis during the period 2002-2010. AR gene was analysed in all patients as the first candidate gene, yielding a mutation in 42.5% of cases and SRD5A2 gene was analysed as the second candidate gene, resulting in the characterization of 10 different mutations (p.Y91D, p.G115D, p.Q126R, p.R171S, p.Y188CfsX9, p.N193S, p.A207D, p.F219SfsX60, p.R227Q and p.R246W) in nine index patients (6.2% of the total number of 46,XY DSD patients). One of the mutations (p.Y188CfsX9) has never been reported. In addition, we genotyped SRD5A2 gene p.V89L and c.281+15T>C polymorphisms in 46,XY DSD and in 156 normal adult males and found that patients with SRD5A2 mutations or without a known molecular diagnosis presented a higher frequency of homozygous p.L89, homozygous TT and combined CCTT genotypes compared with controls. This result suggests that 46,XY DSD patient phenotypes may be influenced by SRD5A2 polymorphism genotypes. SRD5A2 gene mutations may not be as infrequent as previously considered in 46,XY DSD patients with variable degrees of external genitalia virilization at birth and normal T production and appears to be the second aetiology in our series.

Cavernomatosis múltiple familiar: descripción de una nueva mutación / Familial multiple cavernomatosis: description of a new mutation

No disponible

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

BACKGROUND: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). OBJECTIVE: The aim of the study was to characterize the contribution of the AR gene to the molecular cause of 46,XY DSD in a series of Spanish patients. SETTING: We studied a series of 133 index patients with 46,XY DSD in whom gonads were differentiated as testes, with phenotypes including varying degrees of undervirilization, and in whom the AR gene was the first candidate for a molecular analysis. METHODS: The AR gene was sequenced (exons 1 to 8 with intronic flanking regions) in all patients and in family members of 61% of AR-mutated gene patients. RESULTS: AR gene mutations were found in 59 individuals (44.4% of index patients), of whom 46 (78%) were CAIS and 13 (22%) PAIS. Fifty-seven different mutations were found: 21.0% located in exon 1, 15.8% in exons 2 and 3, 57.9% in exons 4-8, and 5.3% intronic. Twenty-three mutations (40.4%) had been previously described and 34 (59.6%) were novel. CONCLUSIONS: AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.

Efficacy and effectiveness of individual family intervention on social and clinical functioning and family burden in severe schizophrenia: a 2-year randomized controlled study.

BACKGROUND: Empirical evidence of the efficacy and effectiveness of psychosocial family intervention and of the specificity of its effects on the course of schizophrenia is limited. The aim was to study the efficacy and effectiveness of psychosocial family intervention with regard to clinical and social functioning and family burden after controlling for compliance and several prognostic factors. METHOD: A 2-year randomized controlled trial with blind assessments. Fifty patients with DSM-IV schizophrenia and persistent positive symptoms and/or previous clinical relapse were allocated to psychosocial family intervention, individual counselling and standard treatment versus individual counselling and standard treatment. RESULTS: Family intervention was associated with fewer clinical relapses, hospitalizations and major incidents, and an improvement in positive and negative symptoms, social role performance, social relations, employment and family burden. The reduction in hospitalizations in the family intervention group was significantly greater than that observed in the group of patients who refused to participate but this was not the case for the control group. The effects of family intervention were independent of compliance and prognostic factors. CONCLUSIONS: Family intervention is effective in severe schizophrenia independently of compliance and prognostic factors.

Motor speed predicts stability of cognitive deficitsin both schizophrenic and bipolar I patients at oneyearfollow-up

Background: We examined whether motor speed assessed by the fingertapping test predicts generalized and specific stable deficits because of a common pathogenicprocess in bipolar and schizophrenic patients.Methods: One hundred and two patients underwent a battery of neuropsychologicaltests. Patients with a score of less than one standard deviation from their siblings’ samplein two assessments with an interval of one year were defined as suffering from stabledeficits because of a common pathogenic process. In addition to univariate analyses, factoranalyses, ordinal logistic regression, and multiple linear regressions were used. A generalscore was also calculated. Results: No differences were found between schizophrenic and bipolar patients in thedeficits of verbal fluency, shift reasoning ability and executive attention. Schizophrenicpatients had greater persistent cognitive deficit because of a common pathogenic factor inthe verbal memory dimension than bipolar patients. Motor speed predicted the specificdeficits of verbal fluency, shift reasoning, executive attention and the general deficit ofboth bipolar I and schizophrenic patients. Bipolar patients suffered a lesser specific deficitin the verbal memory dimension than schizophrenic patients did, this domain not beingpredicted by motor speed. Motor speed predicted the generalized deficit and the specificdimensions in which schizophrenic and bipolar patients showed no differences.Conclusions: These results suggest the presence of general and specific stable cognitivedeficits because of a common pathogenic factor related to psychomotor slowness. Motorspeed seems to be suitable endophenocognitype for schizophrenia and bipolar disorder (AU)

Insights into the role of microRNAs in cardiac diseases: from biological signalling to therapeutic targets.

microRNAs have recently opened new pathways to explain gene expression and disease biology in many scenarios, including cardiac diseases. microRNAs are endogenous small non-coding RNAs that mediate post-transcriptional repression or messenger RNA degradation. By annealing to inexactly complementary sequences in the 3' untranslated region of the target messenger RNA, protein level is down-regulated. Several microRNAs appear to act cooperatively through multiple target sites in one gene and, conversely, most microRNAs can target several genes. miR-133 and miR-1 are specifically expressed in cardiac and skeletal muscle and control myogenesis, cardiac development, cardiac performance and cardiomyocyte hypertrophy (mainly by tuning transcription factors and other growth-related targets). They also modulate the expression of certain cardiac ion channels and related proteins with proarrhythmic effect. Besides them, other microRNAs have been shown to exert influence on the myocardial growth, the electrical balance and the angiogenesis processes that take place in the heart. Bioinformatics is a useful tool to identify potential targets of a given microRNA, although there is still substantial concern about their reliability. Experimental manipulation of microRNAs has provided a tantalizing basis to speculate that future research on microRNAs may yield important progress in the prevention of sudden cardiac death and in the treatment of cardiac heart failure. However, the final effect of the blockage of microRNAs in vivo remains unclear, since each of them can target hundreds of genes with different intensity. The era of the microRNAs in cardiovascular diseases has just started.

[Genetic counselling in visual and auditory disorders]. / El asesoramiento genético en los déficits visuales y auditivos.

PURPOSE: Inherited retinal dystrophies and hearing loss disorders have a broad clinical and genetic heterogeneity. Over the last decade there have been major advances in our understanding of the molecular pathology of these diseases; currently over 200 genes and loci are known to be involved in retinal disorders, and over 60 genes/loci are causative for hearing impairment. METHODS: Genetic testing is crucial for confirming the diagnosis at a molecular level. It also allows a more precise prognosis to be made of the future clinical evolution, as well as an accurate genetic and reproductive counselling, and raises the possibility of creating genetically homogeneous groups of patients for future clinical trials. RESULTS: The high number of genes responsible for these disorders makes molecular testing overwhelming in terms of cost, time and technical effectiveness, and no centre offers testing of all known genes. Several diagnostic tools have emerged recently to circumvent this problem. CONCLUSIONS: In this report, we review the vast genetic heterogeneity of retinal dystrophies and hypoacusis, recent advances in gene discovery, the different DNA-based microarray technologies available for molecular testing, their benefits and limitations, and novel therapeutic approaches.

El asesoramiento genético en los déficits visuales y auditivos / Genetic counselling in visual and auditory disorders

Objetivo: Las enfermedades hereditarias que afectana la retina y la audición presentan una ampliaheterogeneidad clínica y genética. Durante la pasadadécada se han producido importantes avances en elconocimiento de la patogenia molecular de estasenfermedades y, actualmente, más de 200 genes yloci están implicados en enfermedades de la retina ymás de 60 son responsables de pérdida de audición.Método: El estudio genético molecular es crucialpara confirmar el diagnóstico clínico, permite, en ocasiones,conocer el pronóstico de la enfermedad, unconsejo genético y reproductivo adecuado y permitela posibilidad de crear grupos de pacientes genéticamentehomogéneos para futuros ensayos clínicos.Resultados: El elevado número de genes implicadoshace que el diagnóstico molecular no sea factibleen términos de coste, tiempo y esfuerzo técnicoy no existe ningún centro que oferte el análisis detodos los genes conocidos. Recientemente, se handesarrollado varias herramientas diagnósticas dirigidasa paliar este problema. Conclusiones: En este trabajo se ha revisado laamplia heterogeneidad genética de las distrofiasretinianas y la hipoacusia, los recientes descubrimientosde nuevos genes, las distintas herramientasdiagnósticas basadas en microchips de ADN, susventajas y limitaciones y los nuevos avances en buscade una terapia

Purpose: Inherited retinal dystrophies and hearingloss disorders have a broad clinical and geneticheterogeneity. Over the last decade there have beenmajor advances in our understanding of the molecularpathology of these diseases; currently over 200genes and loci are known to be involved in retinaldisorders, and over 60 genes/loci are causative forhearing impairment.Methods: Genetic testing is crucial for confirmingthe diagnosis at a molecular level. It also allows amore precise prognosis to be made of the future clinicalevolution, as well as an accurate genetic andreproductive counselling, and raises the possibilityof creating genetically homogeneous groups ofpatients for future clinical trials.Results: The high number of genes responsible forthese disorders makes molecular testing overwhelmingin terms of cost, time and technical effectiveness,and no centre offers testing of all knowngenes. Several diagnostic tools have emergedrecently to circumvent this problem. Conclusions: In this report, we review the vastgenetic heterogeneity of retinal dystrophies andhypoacusis, recent advances in gene discovery, thedifferent DNA-based microarray technologies availablefor molecular testing, their benefits and limitations, and novel therapeutic approaches