27 documents found, page 1 of 3

Changes in dentofacial development in tracheostomized pediatric patients

Considering the known impact of the absence of nasal flow on dentalfacial growth, tracheotomy should be considered to have a negative impact in pediatric age. The aim of this study is to caracterize the dentofacial development in a population of tracheostomized children. A sample of 29 patients was obtained, and frontal, profile and intra-oral dental photographs taken, and analysed by a stomatologist. The media...

Genetic variants in the IFNGR2 locus associated with severe chronic Q fever

Q fever is a highly contagious zoonosis capable of causing large outbreaks of important health and economic consequences. Host genetic factors are believed to influence the development of severe chronic Q fever following the infection by the etiological agent, Coxiella burnetii. Targetted next generation sequencing (NGS) was performed in a case-control genetic association study on 53 confirmed Q fever cases, in...

Análise genómica no Serviço Nacional de Saúde: modelo colaborativo INSA–ULSSM p...

Comparative analysis of hybrid‑SNP microarray and nanopore sequencing for detec...

Background: Nanopore sequencing is a technology that holds great promise for identifying all types of human genome variations, particularly structural variations. In this work, we used nanopore sequencing technology to sequence 2 human cell lines at low depth of coverage to call copy number variations (CNV), and compared the results variant by variant with chromosomal microarray (CMA) results. Results: We analy...

Genetic variants in the IFNGR2 locus associated with severe chronic Q fever

Q fever is a highly contagious zoonosis capable of causing large outbreaks of important health and economic consequences. Host genetic factors are believed to influence the development of severe chronic Q fever following the infection by the etiological agent, Coxiella burnetii. Targetted next generation sequencing (NGS) was performed in a case-control genetic association study on 53 confirmed Q fever cases, in...

IL-6 induces the overexpression of genes involved in the regulation of apoptosi...

Introduction: An inflammatory microenvironment was identified as a critical tumor-promoting condition for cells harboring tumor-initiating mutations. Cancer cells respond to pro-inflammatory signals with changes in their transcriptome, namely upregulating the expression of pro-tumorigenic transcript variants. A paradigmatic example is the variant RAC1B. We found increased RAC1B levels in samples from inflammato...

Detection of copy number variants in the human genome: Is long-read sequencing ...

Introduction: Copy number variations (CNVs) represent ~13% of the human genome and can harbour important genes and regulatory elements. High-resolution whole genome microarray (MA) analysis is the gold standard tool for detection of CNVs associated with genetic disorders. While short-read sequencing (SRS) can address SV detection, the use of long-read sequencing as proven to overcome SRS mapping inaccuracy in h...

Whole human genome 5’-mC methylation analysis using long read nanopore sequencing

Methylation microarray and bisulphite sequencing are often used to study 5'-methylcytosine (5'-mC) modification of CpG dinucleotides in the human genome. Although both technologies produce trustworthy results, the evaluation of the methylation status of CpG sites suffers from the potential side effects of DNA modification by bisulphite and/or the ambiguity of mapping short reads in repetitive and highly homolog...

Avaliação do desempenho de uma core-facility de sequenciação genómica especiali...

A Unidade de Tecnologia e Inovação (UTI) do Departamento de Genética Humana foi criada em 2009 pelo despacho normativo n.º 15/2009. Apesar de estar integrada num departamento técnico científico, esta unidade constituiu-se desde logo como core-facility de sequenciação genómica do Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA). Este papel envolve uma gestão contínua de prioridades dos serviços a prestar ...

Widening the Spectrum of TMPRSS6 Gene Pathogenic Variants Related with Heredita...

Iron-Refractory Iron-Deficiency Anemia (IRIDA) is a rare autosomal recessive hypochromic microcytic anemia derived from loss-of-function mutations in the TMPRSS6 gene, which encodes Matriptase-2, a negative regulator of hepcidin expression. IRIDA patients have high hepcidin levels that prevent iron absorption and recycling. Very few studies concerning this pathology have been carried out in the Portuguese popul...