Publications by authors named "Catarina Guimaraes"

Article Synopsis
  • Alpha-1 antitrypsin deficiency (AATD) is a hereditary condition that increases the risk of lung and liver diseases, particularly associated with the Pi*Z genetic mutation.
  • A study involving 69 patients identified key factors influencing liver fibrosis, including age over 50, early diagnosis age, low AAT levels, and various metabolic risk factors, with those having a Pi*Z allele and type 2 diabetes at heightened risk.
  • An algorithm for liver disease screening in AATD patients was developed to assist primary care providers in identifying individuals needing further liver evaluation.
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Article Synopsis
  • The study investigated the differences in chronic obstructive pulmonary disease (COPD) between genders in patients with alpha-1 antitrypsin deficiency (AATD) using data from the EARCO registry.
  • It analyzed 1283 AATD patients and found that while women reported less smoking and alcohol consumption, they had a higher prevalence of bronchiectasis despite better lung function.
  • Results indicated that women experienced a similar symptom burden as men but had higher rates of exacerbations, suggesting that treatment approaches may need to be adjusted for female patients.
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Article Synopsis
  • The study investigates the PI*SS genotype's risk for lung disease in individuals with alpha-1 antitrypsin deficiency (AATD) and compares it to the more common PI*ZZ and PI*SZ genotypes.
  • Using data from 1,007 participants, results indicate that individuals with the PI*SS genotype have a lower prevalence of lung diseases like COPD and emphysema compared to PI*ZZ patients, but similar rates to those with the PI*SZ genotype.
  • The findings suggest that while PI*SS is linked to lower lung disease risk than PI*ZZ, it does not show a significant difference when compared to PI*SZ, despite higher serum AAT levels in the former group.
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Introduction: Exacerbations are common in individuals with alpha-1 antitrypsin deficiency (AATD)-related lung disease. This study intended to identify independent predictive factors for exacerbations in AATD using the Portuguese European Alpha-1 Research Collaboration (EARCO) registry.

Methods: This study includes patients from the Portuguese EARCO registry, a prospective multicenter cohort (NCT04180319).

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Background: Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded with the objective of characterising the individuals with AATD and investigating their natural history.

Methods: The EARCO registry is an international, observational and prospective study of individuals with AATD, defined as AAT serum levels < 11 μM and/or proteinase inhibitor genotypes PI*ZZ, PI*SZ and compound heterozygotes or homozygotes of other rare deficient variants.

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Alpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining underdiagnosed. Several organizations and societies, including the Portuguese Society of Pulmonology have been elaborating guidelines and recommendations for the diagnosis and management of alpha 1-antitrypsin deficiency.

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Rationale: Benign Epilepsy of Childhood with Centrotemporal Spikes (BECTS) and temporal lobe epilepsy (TLE) represent two distinct models of focal epilepsy of childhood. In both, there is evidence of executive dysfunction. The purpose of the present study was to identify particular deficits in the executive function that would distinguish children with BECTS from children with TLE.

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Purpose: Patients with TLE are prone to have lower IQ scores than healthy controls. Nevertheless, the impact of IQ differences is not usually considered in studies that compared the cognitive functioning of children with and without epilepsy. This study aimed to determine the effect of using IQ as a covariate on memory and attentional/executive functions of children with TLE.

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Objective: Although benign epilepsy with centrotemporal spikes (BECTS) is an idiopathic, age-related epilepsy syndrome with favorable outcome, recent studies have shown impairment in specific neuropsychological tests. The objective of this study was to analyze the comorbidity between dyslexia and BECTS.

Method: Thirty-one patients with clinical and electroencephalographic diagnosis of BECTS (group A) and 31 paired children (group B) underwent a language and neuropsychological assessment performed with several standardized protocols.

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Congenital bilateral perisylvian syndrome (CBPS) presents with heterogeneous clinical manifestations such as pseudobulbar palsy, language disorder, variable cognitive deficits, epilepsy, and perisylvian abnormalities (most frequently polymicrogyria) on imaging studies. We investigated the relationship between seizures and extent of gray matter (GM) and white matter (WM) abnormalities using voxel-based morphometry (VBM) of brain magnetic resonance imaging (MRI) as well the association between seizures, structural abnormalities and cognitive ability. In this cross-sectional study, we evaluated 51 healthy volunteers and 18 patients with CBPS with epilepsy (seizure group, n = 7) and without (non-seizure group, n = 11).

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In children with temporal lobe epilepsy (TLE), memory deficit is not so well understood as it is in adults. The aim of this study was to identify and describe memory deficits in children with symptomatic TLE, and to verify the influence of epilepsy variables on memory. We evaluated 25 children with TLE diagnosed on clinical, EEG and MRI findings.

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Our aim was to clarify the correlation of attention deficit hyperactivity disorder (ADHD) with epilepsy and behavior problems. This was a cross-sectional study. Sixty children with idiopathic epilepsy were interviewed using the MTA-SNAP IV Teacher and Parent Rating Scale, Vineland Adaptive Behavior Scales and Conners' Rating Scales.

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An association between memory and executive dysfunction (ED) has been demonstrated in patients with mixed neurological disorders. We aimed to investigate the impact of ED in memory tasks of children with temporal lobe epilepsy (TLE). We evaluated 36 children with TLE and 28 controls with tests for memory, learning, attention, mental flexibility, and mental tracking.

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Objectives: To evaluate the presence of neurological soft signs (NSS) and to correlate them with the Wechsler Intelligence Scale for Children (WISC III) in patients with rolandic epilepsy (RE).

Methods: Forty children and adolescents aged between 9 and 15 years were studied. They were divided into two groups: G1 - patients with RE (n=20) - and G2 - healthy controls without epilepsy (n=20).

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Rolandic epilepsy (RE) is the most common type of childhood focal epilepsy. Although there is no intellectual deficit, children with RE may have specific cognitive impairments. The aims of this study were to identify changes in executive functions in children with RE and to verify the influence of epilepsy and seizure variables.

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Acute fibrinous and organising pneumonia (AFOP) was recently described as an unusual pattern of diffuse lung disease. Particular characteristics make the differential diagnosis with the well recognised clinical patterns of diffuse alveolar damage, cryptogenic organising pneumonia or eosinophilic pneumonia. The lack of hyaline membranes, the presence of intra-alveolar fibrin, absence of noticeable eosinophils and patchy distribution suggests that AFOP define a distinct histological pattern.

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The aim of this study was to analyze semantic and episodic memory deficits in children with mesial temporal sclerosis (MTS) and their correlation with clinical epilepsy variables. For this purpose, 19 consecutive children and adolescents with MTS (8 to 16 years old) were evaluated and their performance on five episodic memory tests (short- and long-term memory and learning) and four semantic memory tests was compared with that of 28 healthy volunteers. Patients performed worse on tests of immediate and delayed verbal episodic memory, visual episodic memory, verbal and visual learning, mental scanning for semantic clues, object naming, word definition, and repetition of sentences.

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Unlabelled: Epilepsy can affect the quality of life (QOL) of patients. The temporal lobe epilepsy (TLE) is often refractory to medication, which has an adverse impact on QOL. The surgery can be a form to control the seizures and to improve the QOL of the patients.

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Background: Temporal auditory processing and developmental dyslexia.

Aim: To characterize the temporal auditory processing in children with developmental dyslexia and to correlate findings with cortical malformations.

Method: Twenty school-aged children, ranging in age from 8 to 14 years were evaluated.

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Malformations of cortical development have been described in children and families with language-learning impairment. The objective of this study was to assess the auditory processing information in children with language-learning impairment in the presence or absence of a malformation of cortical development in the auditory processing areas. We selected 32 children (19 males), aged eight to 15 years, divided into three groups: Group I comprised 11 children with language-learning impairment and bilateral perisylvian polymicrogyria, Group II comprised 10 children with language-learning impairment and normal MRI, and Group III comprised 11 normal children.

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