Enfermedad cardiovascular previa y posterior a la infección por COVID-19. Supervivencia a un año / Cardiovascular disease before and after COVID-19 infection: One-year survival

Objetivos Analizar el riesgo de COVID-19 con relación a la morbilidad previa, así como el riesgo de nuevos eventos cardiovasculares (ECV) en pacientes COVID-19 y la supervivencia a un año. Metodología Estudio casos-control y estudio de cohortes prospectivo. Se incluyeron 275 pacientes aleatorizados >18 años diagnosticados de COVID-19 y se aparearon con 825 COVID-19 negativos por edad y sexo (proporción 1:3). Las variables principales fueron diagnóstico de COVID-19 y eventos post-COVID-19. Se estudiaron variables sociodemográficas, comorbilidad y ECV previo. Se realizaron sendos modelos predictivos de factores asociados al desarrollo de COVID-19 y de ECV post-COVID-19, así como un análisis de supervivencia a un año. Resultados Los varones con ECV previo duplican el riesgo de padecer COVID-19 (odds ratio [OR] 2,11; intervalo de confianza [IC] 95% 1,32–3,36). En las mujeres el riesgo aumenta con la edad (OR 1,01; IC 95% 1,00–1,02), la diabetes mellitus (DM) (OR 1,90; IC 95% 1,14–3,17) y el deterioro cognitivo (OR 4,88; IC 95% 2,50–9,53). La inmunosupresión actúa como factor protector en ambos sexos. La edad (OR 1,02; IC 95% 1,00–1,04), hipertensión arterial (HTA) (OR 2,21; IC 95% 1,17–4,17), la infección COVID-19 (OR 4,81; IC 95% 2,89–7,98) y el ECV previo (OR 4,46; IC 95% 2,56–7,75) predicen el desarrollo de un nuevo ECV post-COVID-19. Los pacientes COVID-19 positivos tienen menor supervivencia (mediana de siete vs. 184 días). Conclusiones El ECV previo en varones y la DM junto al deterioro cognitivo en mujeres aumentan el riesgo de presentar COVID-19. La edad, HTA, ECV previo y la infección COVID-19 predicen la aparición de un ECV (AU)

Aim To analyze the risk of COVID-19 in relation to previous morbidity; to analyze the risk of new cardiovascular events (CVE) in COVID-19 patients and one-year survival. Methodology Case–control study and prospective cohort study. Two hundred and seventy-five randomized patients >18 years old with COVID-19 were included and matched with 825 without COVID-19 by age and sex (ratio 1:3). The main variables were diagnosis of COVID-19 and post-COVID-19 events. Sociodemographic variables, comorbidity, and previous CVD were studied. Two predictive models of factors associated with the development of COVID-19 and post-COVID-19 CVE were performed, as well as a one-year survival analysis. Results Men with a previous CVE double the risk of suffering from COVID-19 (OR 2.11; 95% CI: 1.32–3.36). In women, the risk increases with age (OR 1.01; 95% CI: 1.00–1.02), diabetes (DM) (OR 1.90; 95% CI: 1.14–3.17) and cognitive impairment (OR 4.88; 95% CI: 2.50–9.53). Immunosuppression acts as a protective factor in both sexes. Age (OR 1.02; 95% CI: 1.00–1.04), arterial hypertension (OR 2.21; 95% CI: 1.17–4.17), COVID-19 infection (OR 4.81; 95% CI: 2.89–7.98) and previous CVE (OR 4.46; 95% CI: 2.56–7.75) predict the development of a new post-COVID-19 CVE. Positive COVID-19 has lower survival (median 7 days vs. 184 days). Conclusions Previous CVE in men and DM along with cognitive impairment in women increase the risk of presenting COVID-19. Age, arterial hypertension, previous CVE, and COVID-19 infection predict the appearance of new CVE (AU)

[Cardiovascular disease before and after COVID-19 infection: One-year survival]. / Enfermedad cardiovascular previa y posterior a la infección por COVID-19. Supervivencia a un año.

AIM: To analyze the risk of COVID-19 in relation to previous morbidity; to analyze the risk of new cardiovascular events (CVE) in COVID-19 patients and one-year survival. METHODOLOGY: Case-control study and prospective cohort study. Two hundred and seventy-five randomized patients >18 years old with COVID-19 were included and matched with 825 without COVID-19 by age and sex (ratio 1:3). The main variables were diagnosis of COVID-19 and post-COVID-19 events. Sociodemographic variables, comorbidity, and previous CVD were studied. Two predictive models of factors associated with the development of COVID-19 and post-COVID-19 CVE were performed, as well as a one-year survival analysis. RESULTS: Men with a previous CVE double the risk of suffering from COVID-19 (OR 2.11; 95% CI: 1.32-3.36). In women, the risk increases with age (OR 1.01; 95% CI: 1.00-1.02), diabetes (DM) (OR 1.90; 95% CI: 1.14-3.17) and cognitive impairment (OR 4.88; 95% CI: 2.50-9.53). Immunosuppression acts as a protective factor in both sexes. Age (OR 1.02; 95% CI: 1.00-1.04), arterial hypertension (OR 2.21; 95% CI: 1.17-4.17), COVID-19 infection (OR 4.81; 95% CI: 2.89-7.98) and previous CVE (OR 4.46; 95% CI: 2.56-7.75) predict the development of a new post-COVID-19 CVE. Positive COVID-19 has lower survival (median 7 days vs. 184 days). CONCLUSIONS: Previous CVE in men and DM along with cognitive impairment in women increase the risk of presenting COVID-19. Age, arterial hypertension, previous CVE, and COVID-19 infection predict the appearance of new CVE.

Hemofilia B, un sangrado atípicamente abundante durante una prueba rutinaria de un neonato / Hemophilia B, an atypically heavy bleeding during a routine test of a newborn

La hemofilia B es un trastorno hematológico producido por el déficit del factor IX. Aunque generalmente se diagnostica cuando el lactante inicia el gateo o deambulación en forma de hemartros o hemorragias musculares, en este caso el debut es a los 3 días de vida, con un sangrado abundante atípico durante una prueba de rutina. La exploración y pruebas complementarias (hemograma, coagulación, ecografías de partes blandas y grandes articulaciones) no revelaron datos de gravedad. El factor IX, que determina la gravedad, pasó del 1% a un 3% en 24 horas por lo que no precisó de tratamiento (AU)

Hemophilia B is a blood disorder caused by a deficiency of factor IX. Although it is usually diagnosed when the infant starts crawling or walking through the detection of hemarthrosis or muscle bleeds, in this case the onset occurred at 3 days of age with detection of heavy atypical bleeding during a routine test. The examination and additional testing (blood count, coagulation, ultrasound of soft tissue and large joints) did not evince severe disease. Factor IX, which determines the severity, increased from 1% to 3% in 24 hours, so treatment was not required. (AU)

High-dose benznidazole in a 62-year-old Bolivian kidney transplant recipient with Chagas central nervous system involvement.

There is little published data on benznidazole dosing, or levels in cerebrospinal fluid. In this report, we describe the clinical course of an immunosuppressed patient with Chagas central nervous system involvement. He was treated successfully with larger benznidazole doses than are recommended, in order to reach therapeutically effective concentrations in the brain.

A new mass spectrometry-based method for the quantification of histones in plasma from septic shock patients.

The aim of this study was to develop a novel method to detect circulating histones H3 and H2B in plasma based on multiple reaction monitoring targeted mass spectrometry and a multiple reaction monitoring approach (MRM-MS) for its clinical application in critical bacteriaemic septic shock patients. Plasma samples from 17 septic shock patients with confirmed bacteraemia and 10 healthy controls were analysed by an MRM-MS method, which specifically detects presence of histones H3 and H2B. By an internal standard, it was possible to quantify the concentration of circulating histones in plasma, which were significantly higher in patients, and thus confirmed their potential as biomarkers for diagnosing septic shock. After comparing surviving patients and non-survivors, a correlation was found between higher levels of circulating histones and unfavourable outcome. Indeed, histone H3 proved a more efficient and sensitive biomarker for septic shock prognosis. In conclusion, these findings suggest the accuracy of the MRM-MS technique and stable isotope labelled peptides to detect and quantify circulating plasma histones H2B and H3. This method may be used for early septic shock diagnoses and for the prognosis of fatal outcomes.

Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich's ataxia patients.

MicroRNAs (miRNAs) are noncoding RNAs that contribute to gene expression modulation by regulating important cellular pathways. In this study, we used small RNA sequencing to identify a series of circulating miRNAs in blood samples taken from Friedreich's ataxia patients. We were thus able to develop a miRNA biomarker signature to differentiate Friedreich's ataxia (FRDA) patients from healthy people. Most research on FDRA has focused on understanding the role of frataxin in the mitochondria, and a whole molecular view of pathological pathways underlying FRDA therefore remains to be elucidated. We found seven differentially expressed miRNAs, and we propose that these miRNAs represent key mechanisms in the modulation of several signalling pathways that regulate the physiopathology of FRDA. If this is the case, miRNAs can be used to characterize phenotypic variation in FRDA and stratify patients' risk of cardiomyopathy. In this study, we identify miR-323-3p as a candidate marker for phenotypic differentiation in FRDA patients suffering from cardiomyopathy. We propose the use of dynamic miRNAs as biomarkers for phenotypic characterization and prognosis of FRDA.

Inorganic materials acting as heterogeneous photocatalysts and catalysts in the same reactions.

General considerations on the differences and similarities between heterogeneous photocatalysis and thermal catalysis are presented. Some research papers are reviewed where a reaction has been carried out in the presence of an inorganic material used both as catalyst and photocatalyst. The existing literature often compares catalytic reactions undertaken with the contemporaneous presence of radiation, showing only that photocatalytic reactions can occur under milder experimental conditions and at much lower temperatures. Nevertheless, differences in mechanistic aspects, conversions and selectivities between catalytic and photocatalytic reactions should also be highlighted. These are due to various reasons, relating to the effects of the interaction of light with the solid surface, adsorption-desorption of species involved in the (photo)reactions, and activation energy.

Evaluación de la implementación de un protocolo de hipotermia terapéutica en la encefalopatía hipóxico-isquémica neonatal / Evaluation of the implementation of therapeutic hypothermia protocol in the newborn with hypoxic-ischaemic encephalopathy

Introducción; La seguridad de la hipotermia moderada activa (HMA) en la encefalopatía hipóxico-isquémica (EHI) junto con los resultados esperanzadores sobre el pronóstico neurológico ha contribuido a la proliferación de centros donde se oferta esta técnica. Objetivos: Evaluar la experiencia inicial en la implantación de un nuevo programa de HMA: condiciones en las que llegan los neonatos al hospital de referencia, dificultades para llevar a cabo este tratamiento y seguridad de esta intervención. Población: Estudio observacional de una cohorte de pacientes formada por los 15 neonatos nacidos en nuestro hospital o remitidos desde otros centros sanitarios tras presentar una EHI moderada-severa entre el 1 de julio de 2012 y el 1 de enero de 2015. Resultados:. El 60% de los neonatos procedía de otros hospitales de la provincia. Todos requirieron una reanimación avanzada (duración: 10-50 minutos). Se registró el inicio de la hipotermia pasiva en el 73,3% de los casos. En el 40% se esperó, al menos, 6 horas para iniciar HMA. Al ingreso en UCIN: 33,3% presentaron temperatura dentro del rango considerado adecuado y 20% temperatura < 33°C, el 80% ventilación mecánica (40% con FiO2 > 40%), 60% hipotensión arterial, 33,3% glucemia < 60 mg/dl. Todos los neonatos tuvieron clínica multisistémica y 53,3% convulsiones. El 35,7% presentaron algún tipo de alteración en su desarrollo neurológico y la mortalidad fue del 6,6%. Conclusiones: El manejo de los neonatos asfícticos es mejorable optimizando la formación del personal que asiste y traslada a estos pacientes. Con el debido entrenamiento, la HMA ha demostrado ser una técnica segura

Introduction: Therapeutic hypothermia (TH) as the standard therapy in neonates with neurological injury because of hypoxic-ischemic encephalopathy (HIE), provides safe and encouraging results. Because of this, many centers where this technique is offered have multiplied in recent years. Objective: To evaluate the initial experience in the implementation of a new TH program: clinical conditions of newborns once they arrive at referring hospitals, difficulties to start this treatment and safety of this intervention. Material and methods: Observational study of a cohort of patients formed by 15 neonates undergoing therapeutic hypothermia due to moderate or severe HIE in our hospital between July 1, 2012 and January 1, 2015. Results: 60% of the patients came from other hospitals. All of them required advanced resuscitation (from 10 to 50 minutes). The time when passive hypothermia started were recorded in 73.3% of the patients and in 40% were expected at least six hours to start TH. At the admission to neona tal intensive care unit (NICU): only 33.3% of infants were within the target temperature range at arrival and in 20% a temperature lower than 33°C were registered, 80% were in mechanical ventilation (40% with FiO2 > 40%). In 60% of the sample arterial hypothension were recorded and 33,3% of the infants had blood glucose less than 60 mg/dl. The whole sample had multisystemic symptoms and 53,3% had seizures. Had any alteration in their neurological development 35.7% and 6.6% of the neonates died. Conclusions: The management of neonatal asphyxia can be improved by optimizing the training of the staff who attends these neonates and the transport teams who transfer the newborn to the referral hospitals. With the proper training, TH has proven to be a safe technique

Altered nuclear structure in myotonic dystrophy type 1-derived fibroblasts.

Myotonic dystrophy type 1 (DM1) is a multisystem genetic disorder caused by a triplet nucleotide repeat expansion in the 3' untranslated region of the Dystrophia Myotonica-Protein Kinase (DMPK) gene. DMPK gene transcripts containing CUG expanded repeats accumulate in nuclear foci and ultimately cause altered splicing/gene expression of numerous secondary genes. The study of primary cell cultures derived from patients with DM1 has allowed the identification and further characterization of molecular mechanisms underlying the pathology in the natural context of the disease. In this study we show for the first time impaired nuclear structure in fibroblasts of DM1 patients. DM1-derived fibroblasts exhibited altered localization of the nuclear envelope (NE) proteins emerin and lamins A/C and B1 with concomitant increased size and altered shape of nuclei. Abnormal NE organization is more common in DM1 fibroblasts containing abundant nuclear foci, implying expression of the expanded RNA as determinant of nuclear defects. That transient expression of the DMPK 3' UTR containing 960 CTG but not with the 3' UTR lacking CTG repeats is sufficient to generate NE disruption in normal fibroblasts confirms the direct impact of mutant RNA on NE architecture. We also evidence nucleoli distortion in DM1 fibroblasts by immunostaining of the nucleolar protein fibrillarin, implying a broader effect of the mutant RNA on nuclear structure. In summary, these findings reveal that NE disruption, a hallmark of laminopathy disorders, is a novel characteristic of DM1.

Acute neonatal appendicitis: a diagnosis to consider in abdominal sepsis.

Appendicitis in the neonatal period is extremely rare. Its low incidence together with non-specific clinical symptoms often mean the diagnosis is delayed, leading to increased rates of peritonitis and mortality. We report the case of a 33-week premature infant, small for gestational age (1180 g at birth), clinically stable and receiving exclusive enteral feeding, who presented clinical manifestations of necrotizing enterocolitis at 14 days of life. Acute phase reactants were elevated and abdominal radiography showed pneumoperitoneum. Laparotomy revealed acute perforated appendicitis without intestinal involvement and purulent fluid in the peritoneum, for which appendectomy was performed. Neonatal acute appendicitis should be considered in the differential diagnosis of abdominal sepsis since early diagnosis and treatment significantly reduce associated morbidity and mortality.

Periviabilidad: el límite de la prematuridad en un hospital regional de referencia durante los últimos 10 años / Peri-viability: limits of prematurity in a regional hospital in the last 10 years

OBJETIVO: Conocer la viabilidad de prematuros de 22-25 semanas gestacionales en nuestro centro durante últimos 10 años. PACIENTES Y MÉTODOS: Estudio retrospectivo descriptivo. Neonatos nacidos en nuestro hospital entre 1-1-2002 y 31-12-2011, de 22 a 25 semanas gestacionales. RESULTADOS: De 121 neonatos, 45 (37%) eran mortinatos y 76 (63%) nacidos vivos (16 fallecieron en partos y 60 ingresaron en cuidados intensivos neonatales). De los 60 ingresados, 34 fallecieron antes del alta y 26 sobrevivieron (21% del total, 34% de nacidos vivos y 43% de ingresados en cuidados intensivos neonatales). Causas de fallecimiento: 16, limitación del esfuerzo terapéutico en partos; 8, limitación del esfuerzo terapéutico en neonatología; 7, sepsis nosocomiales; 7, enterocolitis necrosantes; 4, problemas respiratorios, y 8, causa desconocida. No sobrevivió ningún menor de 24 semanas. De los 26 supervivientes, 4 presentaron alteraciones neurológicas importantes y 11, normalidad neurológica aparente. No encontramos diferencias estadísticamente significativas en cuanto a mortalidad entre los 2 quinquenios analizados. CONCLUSIONES: La periviabilidad presenta importantes problemas clínicos y éticos a los neonatólogos

AIM: To determine the preterm viability between 22 and 25 gestational weeks in our hospital in last 10 years. PATIENTS AND METHODS: A descriptive retrospective study was conducted on preterms between22-25 gestational weeks born between 1-1-2002 and 12-31-2011. RESULTS: There were 121 newborns, 45 (37%) stillbirths and 76 (63%) live births (16 died indelivery room, and 60 admitted to neonatal intensive unit). Among the 60 admitted, 34 died before hospital discharge, and 26 survived (21% of total, 34% of live births and 43% of those admitted to neonatal intensive unit). The causes of death were: 16 therapeutic effort limitation in delivery room, 8 therapeutic effort limitation in neonatal ward, 7 nosocomial sepsis, 7 NEC,4 respiratory problems, and 8 of unknown cause. There were no survivors below 24 gestational weeks. Of the 26 survivors, 4 had major neurological disorders, and 11 with a normal neurological outcome. No significant statistical differences were found in the mortality between the two five-year periods analysed. CONCLUSIONS: The peri-viability has important clinical and ethical problems for neonatologist

[Peri-viability: limits of prematurity in a regional hospital in the last 10 years]. / Periviabilidad: el límite de la prematuridad en un hospital regional de referencia durante los últimos 10 años.

AIM: To determine the preterm viability between 22 and 25 gestational weeks in our hospital in last 10 years. PATIENTS AND METHODS: A descriptive retrospective study was conducted on preterms between 22-25 gestational weeks born between 1-1-2002 and 12-31-2011. RESULTS: There were 121 newborns, 45 (37%) stillbirths and 76 (63%) live births (16 died in delivery room, and 60 admitted to neonatal intensive unit). Among the 60 admitted, 34 died before hospital discharge, and 26 survived (21% of total, 34% of live births and 43% of those admitted to neonatal intensive unit). The causes of death were: 16 therapeutic effort limitation in delivery room, 8 therapeutic effort limitation in neonatal ward, 7 nosocomial sepsis, 7 NEC, 4 respiratory problems, and 8 of unknown cause. There were no survivors below 24 gestational weeks. Of the 26 survivors, 4 had major neurological disorders, and 11 with a normal neurological outcome. No significant statistical differences were found in the mortality between the two five-year periods analysed. CONCLUSIONS: The peri-viability has important clinical and ethical problems for neonatologist.

Keggin heteropolyacid H3PW12O40 supported on different oxides for catalytic and catalytic photo-assisted propene hydration.

Catalytic and catalytic photo-assisted hydration of propene to form 2-propanol in gas-solid regime at atmospheric pressure and 85 °C were carried out by using a heteropolyacid (POM) supported on different oxides. Binary materials were prepared by impregnation of H3PW12O40 on different commercial and home prepared supports (TiO2, SiO2, WO3, ZrO2, ZnO, Al2O3). Some of the composites were active both for catalytic and catalytic photo-assisted reactions. The Keggin type POM was completely and partially degraded, when supported on ZnO and Al2O3, respectively, and these binary solids always resulted as inactive for both catalytic and catalytic photo-assisted reactions. The supported Keggin POM species played a key role both for the catalytic and the photo-assisted catalytic reactions, due to their strong acidity and ability to form strong oxidant species under UV irradiation, respectively. The contemporary presence of heat and UV light improved the activity of almost all POM supported materials. All materials were characterized by X-ray diffraction (XRD), scanning electron microscopy observations (SEM), diffuse reflectance spectroscopy (DRS), determination of the conduction and valence band energy by photovoltage measurements, Fourier transform infrared spectroscopy (FTIR), NH3-TPD experiments and time resolved microwave conductivity (TRMC).

Intoxicación por cafeína en un recién nacido prematuro / Caffeine intoxication in a premature newborn

El citrato de cafeína se usa en Neonatología como tratamiento de primera línea para tratar o prevenir la apnea de la prematuridad. Describimos un caso de intoxicación accidental por cafeína (140mg/kg) en un prematuro de 36 horas de vida. El paciente presentó alteraciones neurológicas y cardiacas, con hiperglucemia, elevación de la creatininfosfo-quinasa y de la troponina T. En sangre la cifra máxima de cafeína fue de 127 µg/ml. La evolución fue favorable con tratamiento conservador. El análisis de los errores en la seguridad de los pacientes debe ser un punto esencial en la educación pediátrica (AU)

Caffeine citrate is used as first-line therapy in neonates to treat or prevent apnea of prematurity. We describe a caffeine intoxication (140 mg/kg) in a 36 hours-old preterm neonate. Patient showed neurological and cardiac alterations, with hyperglycemia, elevated creatine kinase and troponin and peak caffeine plasma level of 127 µg/ml. Clinical evolution was favorable with conservative support. Analysis of patient safety errors must be essential point in paediatric education (AU)

Hipertricosis cubital o síndrome del codo piloso / Hypertrichosis cubiti (hairy elbow syndrome)

La hipertricosis cubital, o síndrome del codo piloso, es una afección rara, con una repercusión fundamentalmente estética, aunque en la mitad de los casos descritos se ha asociado a otras malformaciones. Se describe el caso de un paciente de 6 años de edad, con un aumento de vello en las superficies extensoras de las extremidades superiores, diagnosticado de hipertricosiscubital. Asimismo, se comentan diferentes aspectos de esta entidad tan poco conocida (AU)

Hypertrichosis cubiti, or hairy elbow syndrome, is a rare disease with fundamentally esthetic repercussion although in half of the described cases other malformations have been associated. We describe the case of a six years old patient with an increase of localized hair in superficial extensors of upper extremities, diagnosed of hypertrichosis cubiti. Different aspects of this little-known syndrome are commented (AU)

Epidemiología de las fisuras labiales y palatinas durante los años 1990–2004 en Asturias / The epidemiology of cleft lip and palate over the period 1990–2004 in Asturias

Introducción: Las fisuras labiales y palatinas son los defectos congénitos faciales más frecuentes. Objetivo: Conocer la frecuencia de estos defectos en Asturias y realizar una descripción clinicoepidemiológica de sus anomalías asociadas. Metodología: Análisis de los datos del Registro de Defectos Congénitos de Asturias de los años 1990–2004 sobre una población de 103.452 nacidos y comparación con el European Concerted Action on Congenital Anomalies and Twins y otros registros españoles. Resultados: De los 145 casos registrados, el 26,9% eran fisuras labiales, el 28,3% eran fisuras labiopalatinas y el 44,8% eran fisuras palatinas. La prevalencia total de las fisuras labiales o palatinas fue de 14,4 por 10.000 nacidos. Un 18,6% tenía otros defectos asociados, y fueron más frecuentes las anomalías esqueléticas, las cardiovasculares y las del sistema nervioso central. Un 22,1% de las fisuras labiales y palatinas pertenecía a un síndrome o secuencia reconocida. El diagnóstico prenatal fue del 12,4%, principalmente en los casos polimalformados y síndromes. Conclusiones: La prevalencia total de las fisuras labiales y palatinas en Asturias durante este período fue similar a la de otros registros europeos. Debido a la elevada asociación a otras anomalías, debe realizarse una búsqueda minuciosa de ellas, tanto en la ecografía prenatal como en la exploración del recién nacido (AU)

Introduction: Cleft lip and palate (oral clefts) are the most common congenital facial defects. Objective: To assess the prevalence of oral clefts and to describe the associated malformations in a geographically defined population. Method: Data from the Asturias Registry of Congenital Defects were used to investigate the epidemiology of congenital facial clefts over the period 1990–2004 among the 103,452 births in the region. The results were also compared with data from EUROCAT and other Spanish registries. Results: Out of 145 oral clefts recorded, cleft lip was 26.9%, cleft lip and palate 28.3% and cleft palate 44.8%. Total prevalence of oral clefts was 14.4 per 10,000 births. Other associated defects were found in 18.6% of the total cases, with skeletal, cardiovascular and central nervous systems being the most common anomalies. Syndromes or sequences were found in 22% of clefts. A prenatal diagnosis was made in 12.4%. Conclusion: The prevalence of oral clefts in Asturias over this period fell within the range reported for other European registries. An exhaustive prenatal ultrasound and examination of the affected newborns to look for other malformations should be considered in infants with clefts, due to the high association with them (AU)

Frecuencia y presentación clínica de los defectos oculares congénitos en Asturias (1990–2004) / Frequency and clinical presentation of congenital ocular anomalies in Asturias 1990–2004

Introducción: Los defectos oculares congénitos (DOC) pueden originar importante discapacidad. Objetivo: El objetivo de este estudio fue conocer la prevalencia total de los DOC en Asturias, su tendencia y realizar una descripción de su forma de presentación. Metodología: Análisis de los datos del Registro de Defectos Congénitos de Asturias (RDCA) de los años 1990–2004. La población estudiada fueron los 103.452 nacidos de madres residentes en Asturias en este periodo. Se calcularon las tasas de prevalencia total. Resultados: De los 3.035 casos con defectos congénitos registrados durante los 15 años estudiados, 70 tenían un DOC. La prevalencia total media fue de 6,8 por 10.000 nacidos, con una tendencia estable. Los más frecuentes fueron: las cataratas congénitas (2,0 por 10.000 nacidos vivos), la anoftalmia/microftalmia (1,4 por 10.000 nacidos vivos) y los colobomas (1,3 por 10.000 nacidos vivos). El 40 % de los DOC se presentaron de forma aislada, 37% pertenecían a un síndrome y 23% se asociaban a otras anomalías congénitas no sindrómicas. Conclusiones: La prevalencia total de los DOC durante este periodo en Asturias fue estable siendo las cataratas congénitas el DOC más frecuente. Más de la mitad de los DOC, en especial la anoftalmia/microftalmia se asociaron a otras malformaciones congénitas (AU)

Introduction: Congenital ocular anomalies (COAs) can produce serious disability. Objective: The purpose of this investigation was to assess the prevalence of COAs, their trends and to describe the associated malformations and syndromes in a geographically defined population. Method: Data from the Asturias Registry of Congenital Defects were used. The period studied was from 1990 to 2004 and the study population the 103,452 births of mothers living in the region. Total prevalence was calculated. Results: A total of 3035 cases with congenital defects were recorded, of these 70 had COAs. The total prevalence was 6.8 per 10000 births, with a stable trend during this period. The most common COAs were: congenital cataract (2.0 per 10000 births), anophthalmos/microphthalmos (1.4 per 10000 births) and coloboma (1.3 per 10000 births). 40% of COAs occurred as isolated defects, 37% were syndromes and 23% were associated with other congenital defects. Conclusions: The prevalence of COAs in Asturias over this period had a stable trend and the congenital cataract was the commonest COAs. COAs, particularly the anophthalmos/microphthalmos were associated with other congenital anomalies (AU)

[Frequency and clinical presentation of congenital ocular anomalies in Asturias 1990-2004]. / Frecuencia y presentación clínica de los defectos oculares congénitos en Asturias (1990-2004).

INTRODUCTION: Congenital ocular anomalies (COAs) can produce serious disability. OBJECTIVE: The purpose of this investigation was to assess the prevalence of COAs, their trends and to describe the associated malformations and syndromes in a geographically defined population. METHOD: Data from the Asturias Registry of Congenital Defects were used. The period studied was from 1990 to 2004 and the study population the 103,452 births of mothers living in the region. Total prevalence was calculated. RESULTS: A total of 3035 cases with congenital defects were recorded, of these 70 had COAs. The total prevalence was 6.8 per 10000 births, with a stable trend during this period. The most common COAs were: congenital cataract (2.0 per 10000 births), anophthalmos/microphthalmos (1.4 per 10000 births) and coloboma (1.3 per 10000 births). 40% of COAs occurred as isolated defects, 37% were syndromes and 23% were associated with other congenital defects. CONCLUSIONS: The prevalence of COAs in Asturias over this period had a stable trend and the congenital cataract was the commonest COAs. COAs, particularly the anophthalmos/microphthalmos were associated with other congenital anomalies.

[The epidemiology of cleft lip and palate over the period 1990-2004 in Asturias]. / Epidemiología de las fisuras labiales y palatinas durante los años 1990-2004 en Asturias.

INTRODUCTION: Cleft lip and palate (oral clefts) are the most common congenital facial defects. OBJECTIVE: To assess the prevalence of oral clefts and to describe the associated malformations in a geographically defined population. METHOD: Data from the Asturias Registry of Congenital Defects were used to investigate the epidemiology of congenital facial clefts over the period 1990-2004 among the 103,452 births in the region. The results were also compared with data from EUROCAT and other Spanish registries. RESULTS: Out of 145 oral clefts recorded, cleft lip was 26.9%, cleft lip and palate 28.3% and cleft palate 44.8%. Total prevalence of oral clefts was 14.4 per 10,000 births. Other associated defects were found in 18.6% of the total cases, with skeletal, cardiovascular and central nervous systems being the the most common anomalies. Syndromes or sequences were found in 22% of clefts. A prenatal diagnosis was made in 12.4%. CONCLUSION: The prevalence of oral clefts in Asturias over this period fell within the range reported for other European registries. An exhaustive prenatal ultrasound and examination of the affected newborns to look for other malformations should be considered in infants with clefts, due to the high association with them.