Sistemática molecular de los géneros Laurencia, Osmundea y Palisada (Rhodophyta) de las Islas Canarias, basadas en la secuencia espaciadora del RUBISCO y del rDNA

The molecular systematics of Laurencia, Osmundea and Palisada (Rhodomelaceae, Ceramiales) species from the Canary Islands has been determined by analysis sequences of the ribulose,1-5, bisphosphate carboxylase (RUBISCO) spacer from the plastid genome and the internal transcribed spacers (ITS1 and ITS2) and the rDNA 5.8S coding region from the nuclear genome. Comparison of sequence data showed an identity of 72-83 % between the species. Three taxonomic group were identified that correspond to established phylogenetic taxons. Phylogenetic trees using both parsimony and maximum-likelihood methods were derived from the sequence data; the trees indicate that O. pinnatifida appears to be the most distantly related species from the Laurencia and Palisada species. The exact phylogenetic position of Laurencia sp. A (“amarilla”) need additional studies.Se aportan datos filogenéticos de algunas especies de Laurencia, Osmundea y Palisada (Rhodomelaceae, Ceramiales) de las Islas Canarias mediante el análisis de secuencias de la región espaciadora de ribulose,1-5, bisfosfato carboxilasa (RUBISCO) del genoma plastídico y las regiones espaciadoras internas (ITS1, ITS2) y de la región codificadora del rDNA en el genoma nuclear. Los tres géneros analizados, Laurencia, Osmundea y Palisada muestran las correspondientes identidades moleculares con una identidad del 72-83% entre ellas. Empleando métodos de parsimonia y máxima similitud, los correspondientes árboles filogenéticos ponen de manifiesto que O. pinnatifida es el taxon más distante entre las especies de Laurencia y Palisada analizadas. La posición exacta del taxon mencionado como Laurencia sp. A “amarilla”) precisa de estudio adicional

Methodology of urban-design plan for supporting community development

制度:新 ; 文部省報告番号:乙1763号 ; 学位の種類:博士(工学) ; 授与年月日:2003/3/6 ; 早大学位記番号:新355

Clinical-epidemiological aspects of newborn infants with congenital anomalies registered through the ECEMC

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCData gathered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2003 have been analyzed to study some clinical aspects of congenital anomalies through an epidemiological point of view. Data of the ECEMC correspond to a consecutive series of newborn infants with congenital anomalies detected during the first 3 days of life. A total of 1,941,742 newborns were surveyed, and 31,646 (1.63%) of them presented with congenital anomalies. Malformed infants were distributed by clinical presentation as isolated, multiply malformed or syndromes, and some other subgroups were also established, according to our own classification system [Martínez-Frías et al, 2002: Rev Dismor Epidemiol V(1):2-8], based on the most modern dysmorphologic concepts. The 3 forms of clinical presentation are significantly decreasing along the time, mostly as a result of the impact of prenatal detection of anomalies and further interruption of some affected pregnancies. We also studied the distribution by clinical presentation of 17 selected defects. Those defects were selected because of their relatively high frequency at birth, or due to the high morbidity/mortality that they bear, and because their frequency at birth is also monitored in other countries and it would permit comparisons if necessary. A high clinical heterogeneity is common, as most of them appear in any clinical presentation. Some, such as gastroschisis, hypospadias, anencephaly, spina bifida, cleft lip, or diaphragmatic hernia, tend to present more frequently in their isolated form, while other, such as anophthalmia/microphthalmia, abdominal wall defects and bilateral renal agenesis, are usually associated to other anomalies. We performed the etiologic distribution of infants with congenital anomalies, and showed the different types of syndromes identified in the ECEMC and their gene map location, based on the OMIM database, also estimating their minimal prevalence at birth, based on our data. We underline the relevance of clinical analysis of malformed infants in order to organize homogeneous groups to which the epidemiological techniques can be applied. For these purposes, it is crucial a fluent contact between clinicians and epidemiologists, to enhance possibilities of statistical findings being also clinically relevant. At present, this is even more important to conduct molecular studies on specific groups of patients for investigating the causes of congenital defects.N

Clinical-epidemiological aspects of newborn infants with congenital anomalies

Dismorfología, Citogenética y Clínica: Resultados sobre los datos del ECEMCWe have used the data gathered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period 1980-2002, in order to epidemiologically analyze some clinical aspects of a consecutive series of malformed newborn infants. Among a total of 1,838,654 newborns surveyed, 30,531 (1.66%) presented with congenital anomalies detected at birth. Data were analysed before and after the pass of the law permitting voluntary interruption of gestation (VIG) following the detection of anomalies in the fetus. Malformed infants were distributed by clinical presentation as isolated, multiply malformed or syndromes, according to our own classification system [Martínez-Frías et al, 2002: Rev Dismor Epidemiol V(1):2-8]. The 3 forms of clinical presentation are decreasing along the time, as a result of the impact of prenatal detection of anomalies and further VIG in some cases. We also analyzed 17 defects that were selected because of their relatively high frequency at birth, or due to the high morbidity/mortality that they bear, and because their frequency at birth is also monitored in other countries. Most of them show a high clinical heterogeneity, although some (such as gastroschisis, hypospadias, spina bifida, cleft lip, or diaphragmatic hernia) tend to present in their isolated form, while other (such as anophthalmia/microphthalmia) tend to associate to other anomalies. We also performed the etiologic distribution of infants with congenital anomalies in 3 study periods, and showed the number of cases in which the different types of syndromes were identified, as well as the minimal estimate of their frequency at birth and their gene map location, based on the OMIM database. We emphasize the importance of applying all known primary prevention measures, even more during blastogenesis, at the very early stages of pregnancy. On the other hand, we also underline the relevance of clinical analysis of malformed infants in order to organize homogeneous groups to which the epidemiological techniques can be applied. In this way, the statistical findings also will be clinically relevant. This is also important for the molecular studies that may give clues on the causes of congenital defects, as epidemiology of Human Genome can contribute to this kind of research, opening big opportunities in this field.N

Specific Plasma MicroRNA Signatures Underlying the Clinical Outcomes of Hepatitis E Virus Infection

The pathogenic mechanisms determining the diverse clinical outcomes of HEV infection (e.g., self-limiting vs chronic or symptomatic vs asymptomatic) are not yet understood. Because specific microRNA signatures during viral infection inform the cellular processes involved in virus replication and pathogenesis, we investigated plasma microRNA profiles in 44 subjects, including patients with symptomatic acute (AHE, n = 7) and chronic (CHE, n = 6) hepatitis E, blood donors with asymptomatic infection (HEV BDs, n = 9), and anti-HEV IgG+IgM- (exposed BDs, n = 10) and anti-HEV IgG-IgM- (naïve BDs, n = 12) healthy blood donors. By measuring the abundance of 179 microRNAs in AHE and naïve BDs by RT-qPCR, we identified 51 potencial HEV-regulated microRNAs (PBH < 0.05). Further analysis showed that HEV genotype 3 infection is associated with miR-122, miR-194, miR-885, and miR-30a upregulation and miR-221, miR-223, and miR-27a downregulation. AHE showed significantly higher levels of miR-122 and miR-194, and lower levels of miR-221, miR-27a, and miR-335 compared to HEV BDs. This specific microRNA signature in AHE could promote virus replication and reduce antiviral immune responses, contributing to the development of clinical symptoms. We found that mir-194, miR-335, and miR-221 can discriminate between asymptomatic HEV infections and those developing acute symptoms, whereas miR-335 correctly classify AHE and CHE. Conclusions: Our data suggest that diverse outcomes of HEV infection result from different HEV-induced microRNA dysregulations. The specific microRNA signatures described offer novel information that may serve to develop biomarkers of HEV infection outcomes and improve our understanding of HEV pathogenesis, which may facilitate the identification of antiviral targets

Síndromes muy poco frecuentes

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCIn an attempt to facilitate the knowledge of the malformation syndromes that have very few frequencies to pediatricians and first health care physicians, particularly to those of rural areas, we have selected six new syndromes. As in previous years, the syndromes are selected from the ECEMC database registry. In this Boletín we include the following syndromes: Townes-Bröcks, MMT, Smith-Lemli-Opitz, Coffin-Siris, Espleno-gonadal fusion, and Silver-Russell syndromes. For each syndrome, we described the most important clinical characteristics, and the present knowledge of their causal factors.N

Very few frequent syndromes

Dismorfología, Citogenética y Clínica: Resultados sobre los datos del ECEMCThis section is based on two facts: First, that the majority of the malformation syndromes are very few frequent. Second, the progressive generalization in our country of the prenatal diagnosis with a high resolution echography performed to all women between 18-20 weeks of gestation as a Service of the National Health System, together with the possibility of voluntary interruption of gestation if fetal anomalies are detected. Thus, the impact of prenatal diagnosis is that the frequency at birth of these syndromes shows an important and progressive decreasing trend. For these reasons, in addition to the difficulty for pediatricians and geneticists or our population to diagnose these usually rare syndromes, the impact of prenatal diagnosis increases the usual difficulties that the young pediatricians and geneticists have to identify these pathologies. This increases the possibility that some affected patients can remain undiagnosed for a long time, or even never be diagnosed. As started last year in this section of the "Boletín del ECEMC", we present other six syndromes of low frequency in our country.N