Relatório de estágio em farmácia comunitária

Relatório de estágio realizado no âmbito do Mestrado Integrado em Ciências Farmacêuticas, apresentado à Faculdade de Farmácia da Universidade de Coimbr

Integration of a Chinese character ontology and Historical Glyph Examples

9th International Conference of Digital Archives and Digital Humanities (DADH 2018), December 18-21, 2018, Dharma Drum Institute of Liberal Arts (法鼓文理學院), Taipei.This report describes an attempt to integrate the “CHISE” (“Character Information Service Environment”) character ontology and the “HNG” (“Hanzi Normative Glyphs”) databasedataset. The CHISE character ontology is a large scale character ontology which includes 357 thousand character-objects including Unicode and non-Unicode characters and their glyphs, etc. It was developed for CHISE which is a character processing system not depended on character codes. The framework of CHISE is based on a graph storage named “CONCORD”. We developed a Web service to display and edit objects of CONCORD, called “EsT” (or “CHISE-wiki”). The CHISE character ontology uses the “Multiple Granularity Hanzi Structure Model” to support various glyphs and multiple unification granularity of Chinese characters. This model works fine for modern glyphs of Chinese characters. However, before we started the study to integrate CHISE and HNG, it was not clear that the model is sufficient for premodern Chinese characters. In addition, to design reasonable unification rules for each unification granularity, we need various glyph examples of Chinese characters. In these senses, the CHISE character ontology should integrate glyph database and/or glyph corpus. Therefore, we tried to integrate HNG and the CHISE character ontology. When viewed from the HNG side, this integration has the following significance. The original HNG web service has been stopped since the spring of 2015. Therefore, we applied research on the integration of CHISE and HNG, we provided HNG search function and data browsing function on the CHISE Web service

A Study of Linguistic Analysis for Classical Chinese Texts

A method to analyze classical Chinese texts is proposed. In the method a morphological analyzer MeCab is used. A four-level word-class system for classical Chinese on MeCab is also proposed, and an XEmacs-based editor to make a corpus on the word-class system is presented

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome

Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose based on their clinical presentation and require genetic tests for accurate diagnosis. In addition, p-BS/GS can occur as a result of other inherited diseases such as cystic fibrosis, autosomal dominant hypocalcemia, Dent disease, or congenital chloride diarrhea (CCD). However, the detection of the variants in genes other than known BS/GS-causing genes by conventional Sanger sequencing requires substantial time and resources. We studied 27 cases clinically diagnosed with BS/GS, but with negative genetic tests for known BS/GS genes. We conducted targeted sequencing for 22 genes including genes responsible for tubulopathies and other inherited diseases manifesting with p-BS/GS symptoms. We detected the SLC26A3 gene variants responsible for CCD in two patients. In Patient 1, we found the SLC26A3 compound heterozygous variants: c.354delC and c.1008insT. In Patient 2, we identified the compound heterozygous variants: c.877G > A, p.(Glu293Lys), and c.1008insT. Our results suggest that a comprehensive genetic screening system using targeted sequencing is useful for the diagnosis of patients with p-BS/GS with alternative genetic origins

A birth of bipartite exon by intragenic deletion

Background Disease-causing mutations that activate transposon-derived exons without creating a new splice-site consensus have been reported rarely, but they provided unique insights into our understanding of structural motifs required for inclusion of intronic sequences in mature transcripts. Methods We employ a combination of experimental and computational techniques to characterize the first de novo bipartite exon activation in genetic disease. Results The exon originated from two separate introns as a result of an in-frame COL4A5 deletion associated with a typical Alport syndrome. The deletion encompassed exons 38 through 41 and activated a cryptic 3' and 5' splice site that were derived from intron 37 and intron 41, respectively. The deletion breakpoint was in the middle of the new exon, with considerable complementarity between the two exonic parts, potentially bringing the cryptic 3' and 5' splice site into proximity. The 3' splice site, polypyrimidine tract and the branch site of the new exon were derived from an inactive, 5' truncated LINE-1 retrotransposon. This ancient LINE-1 copy sustained a series of mutations that created the highly conserved AG dinucleotide at the 3' splice site early in primate development. The exon was fully included in mature transcripts and introduced a stop codon in the shortened COL4A5 mRNA, illustrating pitfalls of inferring disease severity from DNA mutation alone. Conclusion These results expand the repertoire of mutational mechanisms that alter RNA processing in genetic disease and illustrate the extraordinary versatility of transposed elements in shaping the new exon-intron structure and the phenotypic variability

Changes in the numbers of patients with acute gastroenteritis after voluntary introduction of the rotavirus vaccine in a Japanese children’s primary emergency medical center

Abstract Background Acute gastroenteritis (AGE) is a major reason for presentation to pediatric primary emergency medical centers. Because rotavirus vaccines were introduced in November 2011 for voluntary vaccination in Japan, we analyzed the changes in the numbers of AGE patients. Methods The number and proportion of patients visiting Kobe children’s primary emergency medical center from January 2011 to February 2015 due to AGE, out of all visiting children, were investigated retrospectively. The rotavirus and norovirus epidemic periods were defined as the periods from March to June and from November to February, respectively, based on their disease prevalence. Results In patients ≤2 years of age, the numbers and proportions of patients with AGE were significantly decreased from 2464/14098 (17%) in 2011 to 1888/12321 (15%) in 2014 (p < 0.01). In patients ≤2 and 3–5 years of age, significant decreases in AGE patients between 2011 and 2014 were observed during the rotavirus season (from 20% [1090/5329] to 14% [642/4482] in patients aged ≤2 years and from 23% [704/3047] to 20% [572/2807] in patients aged 3–5 years, p < 0.01 and p < 0.05, respectively), but not during the norovirus season (from 19% [834/4436] to 19% [797/4160] in patients aged ≤2 years and from 20% [679/3334] to 25% [710/2852] in patients aged 3–5 years). Conclusions The estimated rotavirus vaccine coverage in our area increased from 1% in 2011 to 49% in 2014; this coverage may have resulted in a reduction in AGE patients, both directly and indirectly, in our Japanese children’s primary emergency medical center