MFR - Artigos publicados em revistas não indexadas
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Browsing MFR - Artigos publicados em revistas não indexadas by Author "Costa, C"
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- Nonsense mutation in TITF1 in a Portuguese family with benign hereditary choreaPublication . Costa, MC; Costa, C; Silva, A; Evangelista, P; Santos, L; Ferro, A; Sequeiros, J; Maciel, PBenign hereditary chorea (BHC) is an autosomaldominant disorder of early onset characterized by a slowly progressing or nonprogressing chorea, without cognitive decline or other progressive neurologic dysfunction, but also by the existence of heterogeneity of the clinical presentation within and among families. The genetic cause of BHC is the presence of either point mutations or deletions in the thyroid transcription factor 1 gene (TITF1). We studied a Portuguese BHC family composed of two probands: a mother and her only son. The patients were identified in a neurology out-patient clinic showing mainly involuntary choreiform movements since childhood, myoclonic jerks, falls, and dysarthria. We performed magnetic resonance imaging (MRI), electroencephalogram (EEG), nerve conduction studies, thyroid ultrasound scan, biochemical thyroid tests, and electrocardiogram (ECG). We excluded Huntington disease by appropriate genetic testing and sequenced the entire TITF1 gene for both patients. The patients showed MRI alterations: (1) in the mother, abnormal hyperintense pallida and cortical cerebral/cerebellar atrophy; and (2) in the son, small hyperintense foci in the cerebellum and subtle enlargement of the fourth ventricle. Sequence analysis of the TITF1 gene in these patients revealed the presence of a heterozygous C > T substitution at nucleotide 745, leading to the replacement of a glutamine at position 249 for a premature stop codon. A previously undescribed nonsense mutation in the TITF1 gene was identified as being the genetic cause of BHC in this family.
- Patent Ductus Arteriosus: Perinatal Risk FactorsPublication . Nizarali, Z; Marques, T; Costa, C; Barroso, R; Cunha, MBackground: Patent Ductus Arteriosus (PDA) is the most common heart disease among the newborn population. Besides prematurity, other factors are believed to play a significant role in this condition. Aims: Identification of perinatal risk factors associated with PDA in premature or Very Low Birth Weight Infants (VLBW). Material and methods: Transversal study including all infants admitted to a Level III Neonatal Intensive Care Unit, from January 2005 to December 2009 and included in the Very Low Birth Weight Portuguese National Database . Clinical and demographic data were analysed using a logistic regression analysis to identify risk factors for PDA. Results: A total of 318 VLBW or less than 32 weeks Gestational Age (GA) infants were enrolled, 53.6% males. Infants presenting PDA (100; 31.4%) had a lower mean BW ( 914,19 versus 1257,44 grams; p<0.001) and a lower mean GA (27.06 versus 29.77 weeks; p<0.0001). Using univariate logistic regression, both lower BW [OR: 0.99; CI (95%): 0.995-0.997] and lower GA [OR: 0.68; CI (95%): 0.61-0.75] were important risk factors for PDA. Other factors increasing the risk of PDA were: lower Apgar scores at one [OR: 0.77; CI (95%): 0.68-0.86] and five minutes [OR:0.73;CI (95%): 0.62-0.86]; need for resuscitation in the delivery room [OR: 13.1;CI(95%):3.11-55.1]; surfactant administration [OR:8.12;CI(95%):4.13-15.95]; higher CRIB score [OR:1.17;CI(95%): 1.11-1.24], and higher SNAPPEII score [OR: 1.03; CI (95%): 1.02-1.04]. The logistic multivariate regression model using all these variables identified BW [OR: 0.997; CI (95%): 0.996- 0.998] and surfactant treatment [OR: 3.99; CI (95%): 1.903-8.386] as the only risk factors contributing with statistical significance. The analysis of the ROC curve showed a predictive positive value of 82%. Discussion: The most important risk factors were the use of surfactant and BW, the latter increasing by 23%, the risk of PDA for fewer 100 grams. Although surfactant treatment leads to improved respiratory outcomes and survival in VLBW infants, it increased the risk of PDA by an almost fourfold.