Appropriateness of newborn screening for classic galactosaemia: a systematic review.

Currently, there is no universal agreement on galactosaemia screening, fundamentally because of the risk-benefit uncertainties. We conducted two exhaustive systematic searches in the main electronic databases (PubMed, Embase, Cochrane, etc.) to recover relevant information about the disease and screening test/s in order to support decision making in Spain. All of the 45 studies identified that covered disease issues were retrospective case series or cross-sectional analysis (level-4 evidence). Studies consistently found that the majority of patients presented characteristic symptomatology before diagnosis. Long term disabilities were not significantly correlated with age of diagnosis, onset of dietary restriction or strict diet compliance. The five studies that provided accuracy data used different cut-off points and verification tests, and thus differed in their definitions of a positive case (level-3b evidence). The estimated sensitivity was 100 % and the specificity 99.9 %. The false-positive rate ranged from 0.0005 % to 0.25 %, and the PPV from 0 % to 64.3 %. The comparative clinical effectiveness in relation to not screening or implementation of other programs is unknown. In summary, existing evidence remains insufficient to establish the appropriateness of newborn screening for galactosaemia screening, although health benefits could be expected if early diagnosis and treatment is achieved. If screening is implemented in Spain, it would be important that a pilot programme be implemented to assess false positive rate and ensure that early diagnosis is not delayed.

Queratoplastia endotelial automatizada con pelado de membrana de Descemet (DSAEK). Revisión sistemática sobre efectividad y seguridad / Descemet's stripping automated endothelial keratoplasty (DEAEK). Systematic review of clinical-effectiveness and safety

OBJETIVOS: Realizar una revisión sistemática sobre la eficacia/efectividad, seguridad y costes de la queratoplastia endotelial automatizada con pelado de la membrana de Descemet (DSAEK) en pacientes con fracaso endotelial corneal. MÉTODO: Búsqueda exhaustiva de la bibliografía en las principales bases de datos biomédicas entre enero y mayo de 2012. RESULTADOS: De 485 artículos localizados se incluyeron 16 series de casos y un estudio de coste-efectividad. Se observó una mejoría tras la intervención en la agudeza visual corregida y sin corregir, alcanzándose valores de 0,6 a 0,8 y de 0,5 respectivamente. El astigmatismo no fue significativo en relación con los valores basales. Las principales complicaciones fueron la dislocación-desprendimiento del injerto (1,5-23%), el fracaso primario (0-12%) y el rechazo endotelial (0,8-8,5%). CONCLUSIONES: En la distrofia de Fuchs y en la queratopatía bullosa, la DSAEK mejora la agudeza visual corregida y sin corregir en relación con los valores preintervención. El astigmatismo originado tras la DSAEK no fue significativo. Las complicaciones más importantes están relacionadas con la viabilidad del injerto, siendo la más frecuente la dislocación-desprendimiento y en menor medida el rechazo endotelial. Los estudios que evalúan la DSAEK son series de casos, en su mayoría retrospectivas. La calidad de este tipo de trabajos no es elevada y presenta limitaciones

OBJECTIVE: To conduct a systematic review of the efficacy/effectiveness, safety and cost of Descemet's stripping automated endothelial keratoplasty (DSAEK) technique in patients with corneal endothelial failure. METHODS: Comprehensive literature search conducted in the main biomedical databases from January-May 2012. RESULTS: Following a critical perusal of the total of 485 abstracts retrieved, 16 case series and one economic evaluation study were included. Corrected distance visual acuity and uncorrected distance visual acuity improved after treatment with DSAEK, attaining values of 0.6 to 0.8 and 0.5 respectively. The degree of post-DSAEK astigmatism was not significant with respect to baseline values. The main complications were graft dislocation-detachment (1.5-23%), primary failure (0-12%) and endothelial rejection (0.8-8.5%). CONCLUSIONS: In Fuchs' dystrophy and bullous keratopathy, data on the effectiveness of DSAEK indicate post-intervention improvement in uncorrected and corrected distance visual acuity. Astigmatism arising after DSAEK was not significant. The most significant post-DSAEK complications are linked to the viability of the graft, with the most frequent complications being dislocation-detachment and, to a lesser extent, endothelial rejection. The studies that assess DSAEK are case series, and for the most part retrospective. The quality of this type of studies is both low and limited

[Descemet's stripping automated endothelial keratoplasty (DEAEK). Systematic review of clinical-effectiveness and safety]. / Queratoplastia endotelial automatizada con pelado de membrana de Descemet (DSAEK). Revisión sistemática sobre efectividad y seguridad.

OBJECTIVE: To conduct a systematic review of the efficacy/effectiveness, safety and cost of Descemet's stripping automated endothelial keratoplasty (DSAEK) technique in patients with corneal endothelial failure. METHODS: Comprehensive literature search conducted in the main biomedical databases from January-May 2012. RESULTS: Following a critical perusal of the total of 485 abstracts retrieved, 16 case series and one economic evaluation study were included. Corrected distance visual acuity and uncorrected distance visual acuity improved after treatment with DSAEK, attaining values of 0.6 to 0.8 and 0.5 respectively. The degree of post-DSAEK astigmatism was not significant with respect to baseline values. The main complications were graft dislocation-detachment (1.5-23%), primary failure (0-12%) and endothelial rejection (0.8-8.5%). CONCLUSIONS: In Fuchs' dystrophy and bullous keratopathy, data on the effectiveness of DSAEK indicate post-intervention improvement in uncorrected and corrected distance visual acuity. Astigmatism arising after DSAEK was not significant. The most significant post-DSAEK complications are linked to the viability of the graft, with the most frequent complications being dislocation-detachment and, to a lesser extent, endothelial rejection. The studies that assess DSAEK are case series, and for the most part retrospective. The quality of this type of studies is both low and limited.

[Population screening for colorectal cancer: a systematic review]. / Cribado poblacional del cáncer colorrectal: una revisión sistemática.

INTRODUCTION: Colorectal cancer (CRC) is a serious public health problem due to its high frequency and the mortality it provokes. This disease presents a series of characteristics that make it an ideal candidate for population screening. The aim of the present study was to analyze current knowledge on the efficacy/effectiveness of CRC screening through the fecal occult blood test (FOBT), rectosigmoidoscopy and colonoscopy in individuals without symptoms of this disease. METHOD: We performed a systematic review of the literature on each of the methods of early detection. The databases consulted were MEDLINE and PREMEDLINE (1966-2002), Embase (1980-2002), HTA and Cochrane, among others. Articles were selected using explicit criteria and were classified according to their level of scientific evidence. RESULTS: The best validated test is the FOBT, with the greatest number of randomized controlled trials. The results on the sensitivity and specificity of this test and reduction in mortality from CRC varied widely, depending on the technique used. The decrease in mortality from CRC in groups that underwent screening through FOBT was between 15% and 33%. The number and quality of the studies performed to evaluate flexible sigmoidoscopy and colonoscopy as methods of early detection were much lower. Although the rate of detection of polyps is greater than with the FOBT, the value of these tests as screening techniques has not been analyzed through randomized controlled trials. CONCLUSION: Population screening for CRC reduces mortality from this disease. However, consensus is lacking on the screening method of choice and on the frequency with which screening should be performed. The method best supported by the evidence as a primary detection test is the FOBT. To date, sigmoidoscopy and colonoscopy should be used as diagnostic tests only, mainly because of their invasiveness.

Selective changes in the contents of noradrenaline, dopamine and serotonin in rat brain areas during aging.

This study examines the age-associated changes in noradrenaline (NA), dopamine (DA), 3,4-dihydroxyphenyl-acetic acid (DOPAC), serotonin (5-HT) and 5-hydroxy-3-indoleacetic acid (5-HIAA) in different brain areas of rats. DA and DOPAC concentrations in striatum increased at third month of age, remaining without significant variations until 12th month of age, and decreasing in 24-month-old rats. DA concentration dropped in hippocampus, amygdala and brainstem of 24-month-old-rats, whereas DOPAC levels decreased only in hippocampus. These changes suggest an age-dependent deficit of the dopaminergic system, presumably related to a reduced number/activity of DA nigrostriatal and mesolimbic neurons. An age-induced decline in NA content was found in the pons-medulla, the area containing NA neuronal bodies. Concentrations of 5-HT were reduced with aging in frontal cortex, showing a tendency to decrease in all brain areas examined. The increased 5-HIAA/5-HT ratio found in frontal cortex, amygdala and striatum suggests an age-related decreased synthesis and an accelerated 5-HT metabolism. The 5-HIAA content decreased in brainstem of the oldest rats. These findings point to a selective impairment of nigrostriatal and mesolimbic DA in aging rats, whereas reductions in NA were restricted to cell bodies region and 5-HT showed changes of different extent in areas of terminals and neuronal cell bodies.