Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails. We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy. We observed that 83.3% of patients presented at least two of the three typical manifestations of APECED, while the remaining 16.7% of patients showed other signs of the disease. Analysis of the genetic diagnosis of these subjects revealed that a considerable delay occurs in the majority of patients between the appearance of symptoms and the diagnosis. Overall, the mean diagnostic delay in our patients was 10.2 years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED.     

TarSeqQC: Quality control on targeted sequencing experiments in R

Targeted sequencing (TS) is growing as a screening methodology used in research and medical genetics to identify genomic alterations causing human diseases. In general, a list of possible genomic variants is derived from mapped reads through a variant calling step. This processing step is usually based on variant coverage, although it may be affected by several factors. Therefore, undercovered relevant clinical variants may not be reported, affecting pathology diagnosis or treatment. Thus, a prior quality control of the experiment is critical to determine variant detection accuracy and to avoid erroneous medical conclusions. There are several quality control tools, but they are focused on issues related to whole‐genome sequencing. However, in TS, quality control should assess experiment, gene, and genomic region performances based on achieved coverages. Here, we propose TarSeqQC R package for quality control in TS experiments. The tool is freely available at Bioconductor repository. TarSeqQC was used to analyze two datasets; low‐performance primer pools and features were detected, enhancing the quality of experiment results. Read count profiles were also explored, showing TarSeqQC's effectiveness as an exploration tool. Our proposal may be a valuable bioinformatic tool for routinely TS experiments in both research and medical genetics.     

The sentinel node biopsy in early gastric cancer: a preliminary study

Background and aims Sentinel node biopsy is currently used in surgery of malignant melanoma and breast cancer. The feasibility of sentinel node mapping in gastrointestinal cancers and its diagnostic sensitivity is unclear. It could be of particular value in the management of early gastric cancer in which radical D2 lymphadenectomy may be unnecessary. Materials and methods From January 2004 to June 2005, ten patients with preoperative diagnosis of early gastric cancer and no nodal involvement (cT1N0) were submitted to sentinel node biopsy using the dual mapping procedure with endoscopic blue dye and ^99mTc radio colloid injection. All the patients underwent standard radical gastrectomy and D2 lymphadenectomy. The resected nodes were evaluated by routine (hematoxylin–eosin) histopathological examination; the sentinel (blue or hot) nodes, in addition, were evaluated with immunohistochemistry for cytokeratin. Results The detection rate of this procedure was 100%. The preliminary results and perspectives for feasibility of sentinel node biopsy and its accuracy in predicting the nodal status in early gastric cancer are discussed.     

Evaluation of sixth grade primary schoolchildren's knowledge about avulsion and dental reimplantation

Abstract –  Dental trauma, particularly tooth avulsion, is a frequent cause of tooth loss in children, adolescents, and young adults. The avulsed tooth should be immediately reimplanted in its alveolus. This procedure can be performed by anyone at the accident site and not only by dental surgeons. Therefore, the purpose of this study is to evaluate the knowledge of sixth graders of the city of Araçatuba, SP, about dental avulsion and tooth reimplantation through a structured and standardized survey. Our sample consisted of 778 students. The data collected was processed using the program epiinfo 2000. Most students were around 12 years of age and 94.5% related to practice some kind of sports. Results demonstrated that the possibility of tooth reimplantation after dental avulsion is not acknowledged among these students and dental traumatism was associated to caries, toothache, and use of orthodontic appliances. Only 18.9% of the students associated dental traumatism to an impact trauma; 3.6% would store the tooth in milk, and 3.1% believed the tooth could be reimplanted by anyone present at the accident site. In summary, the results show an overall the lack of knowledge about dental traumatism and highlight the need of special programs designed to educate school-aged students about emergency procedures to handle cases of dental traumatisms.     

Host specificity of the badger’s flea (Paraceras melis) and first detection on a bat host

Defining the whole spectrum of potential hosts of a parasite has large epidemiological and evolutionary implications in biology. Specialized parasites might be able to occasionally exploit a range of different host species, increasing the individual survival and the chances of successful dispersal. For long time Paraceras melis has been considered a specific flea of European badger Meles meles. Anyway, it has occasionally been reported on different hosts. In this work, we summarize the host spectrum of P. melis from literature and we report its first detection on a bat host. Ten species were identified as occasional hosts, man included, and the plasticity of this flea in host exploitation is noteworthy because of possible increase of pathogens transmission to humans and domestic species.