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Porto, Portugal

Pereira I.,University of Porto | Vaz P.,University of Porto | Almeida R.F.,University of Porto | Tavares P.,CGC Genetics | And 2 more authors.
Revista Portuguesa de Estomatologia, Medicina Dentaria e Cirurgia Maxilofacial

Clinically it appears that some patients with etiological factors (dental pathology in the maxillary sinus) exhibit sinus disease and others do not. The aim of this paper is to present the case of a female patient, with a periapical lesion, with symptoms of sinus pathology and the possibility of genetic influence on exacerbated response in the presence of the maxillary sinus pathology of dental origin, through genetic sequencing of IRAK4 gene.The surgical procedure was performed under general anaesthesia. The cyst was enucleated, the dental roots were extracted, a curettage and an irrigation with physiologic saline 0.9% were performed.This work opens new perspectives for research on the role of a specific polymorphism in the IRAK4 gene in the host response. Thus, it may provide valuable data for understanding the phenomena that underlie the recurrence of maxillary sinus pathology and also advance knowledge to improve therapeutic decisions. © 2014 Sociedade Portuguesa de Estomatologia e Medicina Dentária. Source

Braga A.C.,University of Minho | Vaz P.,University of Porto | Sampaio-Fernandes J.C.,University of Porto | Felino A.,University of Porto | Tavares M.P.,CGC Genetics
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)

In this work we propose to build a set of binary logistic models that could assess the probability of success or no success in oral rehabilitation process taking into account some genetic factors, individual habits clinical and non-clinical factors. The study was conducted in a retrospective evaluation and consisted of 155 subjects undergoing oral rehabilitation in the Northern region of Portugal. We evaluated multiple factors in the construction of binary logistic regression models. We have chosen the model that gave statistically better discriminating power between success and failure, through the value of area under the ROC curve. The model that reveals better performance was Model 4, with AUC = 0.789 and a 95% confidence interval [0.715;0.863]. © 2012 Springer-Verlag. Source

Torres F.,CGC Genetics | Torres F.,Abel Salazar Biomedical Sciences Institute | Barbosa M.,Mount Sinai School of Medicine | Barbosa M.,Instituto Gulbenkian Of Ciencia | And 2 more authors.
Journal of Medical Genetics

Neurodevelopmental disorders (NDs) encompass a spectrum of neuropsychiatric manifestations. Chromosomal regions 1q21.1, 3q29, 15q11.2, 15q13.3, 16p11.2, 16p13.1 and 22q11 harbour rare but recurrent CNVs that have been uncovered as being important risk factors for several of these disorders. These rearrangements may underlie a broad phenotypical spectrum, ranging from normal development, to learning problems, intellectual disability (ID), epilepsy and psychiatric diseases, such as autism spectrum disorders (ASDs) and schizophrenia (SZ). The highly increased risk of developing neurodevelopmental phenotypes associated with some of these CNVs makes them an unavoidable element in the clinical context in paediatrics, neurology and psychiatry. However, and although finding these risk loci has been the goal of neuropsychiatric genetics for many years, the translation of this recent knowledge into clinical practice has not been trivial. In this article, we will: (1) review the state of the art on recurrent CNVs associated with NDs, namely ASD, ID, epilepsy and SZ; (2) discuss the models used to dissect the underlying neurobiology of disease, (3) discuss how this knowledge can be used in clinical practice. Source

Nevado J.,Hospital Universitario La Paz | Nevado J.,Research Center Biomedica En Red Of Enfermedades Raras | Rosenfeld J.A.,Perkin Elmer Corporation | Mena R.,Hospital Universitario La Paz | And 44 more authors.
European Journal of Human Genetics

Array comparative genomic hybridization (aCGH) is a powerful genetic tool that has enabled the identification of novel imbalances in individuals with intellectual disability (ID), autistic disorders and congenital malformations. Here we report a 'genotype first' approach using aCGH on 13 unrelated patients with 19p13.3 submicroscopic rearrangement (11 deletions and 2 duplications) and review cases in the literature and in public databases. Shared phenotypic features suggest that these patients represent an interstitial microdeletion/microduplication syndrome at 19p13.3. Common features consist of abnormal head circumference in most patients (macrocephaly with the deletions and microcephaly with the duplications), ID with developmental delay (DD), hypotonia, speech delay and common dysmorphic features. The phenotype is associated with at least a ∼0.113 Mb critical region harboring three strong candidate genes probably associated with DD, ID, speech delay and other dysmorphic features: MAP2K2, ZBTB7A and PIAS4, an E3 ubiquitin ligase involved in the ubiquitin signaling pathways, which we hypothesize for the first time to be associated with head size in humans. © 2015 Macmillan Publishers Limited. Source

Melo C.,Centro Hospitalar do Medio Ave | Gama-de-Sousa S.,Centro Hospitalar do Medio Ave | Almeida F.,Centro Hospitalar do Medio Ave | Rendeiro P.,CGC Genetics | And 3 more authors.

Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted. © 2013 Elsevier B.V. Source

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