Browsing by Author "Almeida, J"
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- Autism Spectrum Disorder: FRAXE Mutation, a Rare EtiologyPublication . Correia, F; Café, C; Almeida, J; Mouga, S; Oliveira, GAutism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an ASD with a normal range of intelligence quotient, that later evolved to compulsive behavior. FRAXE locus analysis by polymerase chain reaction revealed a complete mutation of the FMR 2 gene. This report stresses the importance of clinicians being aware of the association between a full mutation of FMR2 and ASD associated with compulsive behavior despite normal intellectual level.
- Características clínicas e polissonográficas de doentes com distúrbio respiratório do sono em REMPublication . Loureiro, CC; Drummond, M; Winck, JC; Almeida, JThere is a 10 -36% rate of obstructive sleep apnoea syndrome (OSAS) associated with rapid eye movement (REM) in the OSAS population. Prior studies have suggested an increased prevalence of psychiatric disorders and an effect of gender and age on these patients. Our aim was to study the clinical and polysomnograph (PSG) characteristics of our patients with REM- -related sleep disordered breathing (REM SDB). Inclusion criteria was the identification of REM SDB detected by PSG defined as apnea -hypopnea index (AHI) in REM sleep > or = 5h, AHI in non -REM sleep (NREM) < or = 15h and REM/NREM AHI > or = 2. Several Sleep Disorders Questionnaire (SDQ) version 1.02 parameters were analysed. The study comprised 19 patients with a mean age of 54.0 (SD+/-13.97), a mean BMI of 29.01 (SD +/- 4.10) and a 0.58 female / male ratio. The mean Epworth Sleepiness Scale score was 12.74 (SD +/-4.86). Mean AHI was 9.16/h (SD 4.09); mean AHI in REM sleep 37.08/h (SD 25.87) and mean REM -AHI/NREM- -AHI 8.86 (SD 8.63). The anxiety disorder rate was 33.3%; 44.4% in females, 16.7% in males. The average deep sleep was 20.7% (SD 10.42) and REM sleep 15.45% (SD 9.96), with a sleep efficiency of 85.3 (SD 8.70). No significant statistical correlation was found between the REM/NREM AHI index and anxiety symptoms, daytime sleepiness and sleep quality (REM and deep sleep percentages). These patients differ from the general OSAS population: on average, they are not obese, there are a greater number of females affected and they do not present a very significant diurnal hypersomnia. Reduced deep sleep and increased REM sleep were also present versus general population data, and sleep efficiency was just below the normal limit. Anxiety disorders were more prevalent in this group than described for the general population (3%) and OSAS patients.
- A case of paraplegia in a child with osteogenesis imperfectaPublication . Bastos, S; Serrano, S; Almeida, J; Veiros, I; Nunes, R
- Characterization of patients with ankylosing spondylitis in hidrokinesitherapy - a multidimensional assessmentPublication . Januário, F; Almeida, J; Serra, S; Amaral, C; Machado, P; Rodrigues, LAOBJECTIVES: Clinical, functional and working characterization of an Ankylosing Spondylitis (AS) group of patients that perform hydrotherapy regularly in a physical and rehabilitation department. Assessment of the benefit of hydrotherapy in symptom relief, function and consumption of analgesics and non-steroidal anti-inflammatory drugs (NSAIDs). MATERIAL AND METHODS: A transversal characterization of a group of patients with SA undergoing hydrotherapy was performed. Demographic, clinical (including disease activity, function and health-related quality of life), radiographic and laboratorial data was collected. A questionnaire about working situation, presence of dyspnoea, smoking, number of sessions and benefit of hydrotherapy was applied. RESULTS: 22 patients (73% males) were enrolled in the study, mean age 55.6 ± 8.8 years, mean duration of the disease 28.0 ± 13.13 years. Apart from the axial involvement, 50% had a previous history of enthesitis, 54.5% peripheral arthritis, 18% dactylitis and 36% uveitis. At the day of assessment, 81% had low-back pain complaints (39% inflammatory rhythm), 18% oligoarthritis, 9.1% had total hip and/or knee prosthesis. The majority of the patients had active disease, accentuated functional deterioration and reduced health related quality of life. About 54.5% were retired due to disability, 18.2% were smokers and 36.4% had dyspnoea; 31.8% presented restrictive ventilatory alterations; 36.4% obstructive (predominance in the small airways); 13.6% mixed and in 18.2% the spiromety was normal. The mean total time of hydrotherapy was 13 ± 6.8 years. The patients attended a mean of 3 sessions per week and 3 series of 15 sessions per year. Of the 22.7% that performed another physical activity, 80% walked and 20% cycled. The ingestions of analgesics (p < 0.05) and NSAIDs (p < 0.01) were also reduced. CONCLUSION: A high percentage of spyrometric changes were identified. The majority of the patients are retired due to disability. The patients feel benefit with hydrotherapy, that contributed to reduction of the analgesic and NSAIDs consumption. The importance of the global systemic evaluation and multidisciplinary of the SA to optimize the therapeuthics and improve the quality of life of the patients is pointed out.
- A Direct Comparison of Local-Global Integration in Autism and other Developmental Disorders: Implications for the Central Coherence HypothesisPublication . Bernardiono, I; Mouga, S; Almeida, J; van Asselen, M; Oliveira, GThe weak central coherence hypothesis represents one of the current explanatory models in Autism Spectrum Disorders (ASD). Several experimental paradigms based on hierarchical figures have been used to test this controversial account. We addressed this hypothesis by testing central coherence in ASD (n = 19 with intellectual disability and n = 20 without intellectual disability), Williams syndrome (WS, n = 18), matched controls with intellectual disability (n = 20) and chronological age-matched controls (n = 20). We predicted that central coherence should be most impaired in ASD for the weak central coherence account to hold true. An alternative account includes dorsal stream dysfunction which dominates in WS. Central coherence was first measured by requiring subjects to perform local/global preference judgments using hierarchical figures under 6 different experimental settings (memory and perception tasks with 3 distinct geometries with and without local/global manipulations). We replicated these experiments under 4 additional conditions (memory/perception*local/global) in which subjects reported the correct local or global configurations. Finally, we used a visuoconstructive task to measure local/global perceptual interference. WS participants were the most impaired in central coherence whereas ASD participants showed a pattern of coherence loss found in other studies only in four task conditions favoring local analysis but it tended to disappear when matching for intellectual disability. We conclude that abnormal central coherence does not provide a comprehensive explanation of ASD deficits and is more prominent in populations, namely WS, characterized by strongly impaired dorsal stream functioning and other phenotypic traits that contrast with the autistic phenotype. Taken together these findings suggest that other mechanisms such as dorsal stream deficits (largest in WS) may underlie impaired central coherence.
- Doença Pulmonar Obstrutiva Crónica em Portugal: estudoPneumobil (1995) e estudo de prevalência de 2002 revisitadosPublication . Cardoso, J; Ferreira, JR; Almeida, J; Santos, JM; Rodrigues, F; Matos, MJ; Gaspar, MBACKGROUND: Chronic Obstructive Pulmonary Disease (COPD) has been a leading cause of morbidity and mortality worldwide, over the years. In 1995, the implementation of a respiratory function survey seemed to be an adequate way to draw attention to neglected respiratory symptoms and increase the awareness of spirometry surveys. By 2002 there were new consensual guidelines in place and the awareness that prevalence of COPD depended on the criteria used for airway obstruction definition. The purpose of this study is to revisit the two studies and to turn public some of the data and respective methodologies. METHODS: From Pneumobil study database of 12,684 subjects, only the individuals with 40+ years old (n = 9.061) were selected. The 2002 study included a randomized representative sample of 1,384 individuals with 35-69 years old. RESULTS: The prevalence of COPD was 8.96% in Pneumobil and 5.34% in the 2002 study. In both studies, presence of COPD was greater in males and there was a positive association between presence of COPD and older age groups. Smokers and ex-smokers showed a higher proportion of cases of COPD. CONCLUSIONS: Prevalence in Portugal is lower than in other European countries. This may be related to lower smokers' prevalence. Globally, the most important risk factors associated with COPD were age over 60 years, male gender and smoking exposure. All aspects and limitations regarding different recruitment methodologies and different criteria for defining COPD cases highlight the need of a standardized method to evaluate COPD prevalence and associated risks factors, whose results can be compared across countries, as it is the case of BOLD project.
- A genome-wide scan for common alleles affecting risk for autismPublication . Anney, R; Klein, L; Pinto, D; Pegan, R; Magalhães, TR; Almeida, J; Oliveira, GAlthough autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
- Hemobilia due to pseudoaneurysm of the cystic arteryPublication . Sousa, HT; Amaro, P; Brito, J; Almeida, J; Silva, MR; Romãozinho, JM; Leitão, M
- Molecular and cytogenetic characterization of expanded B-cell clones from multiclonal versus monoclonal B-cell chronic lymphoproliferative disorders.Publication . Henriques, A; Rodriguez-Caballero, A; Criado, I; Langerak, AW; Nieto, WG; Lecrevisse, Q; Gonzáles, M; Cortesão, E; Paiva, A; Almeida, J; Orfão, AChronic antigen-stimulation has been recurrently involved in the earlier stages of monoclonal B-cell lymphocytosis, chronic lymphocytic leukemia and other B-cell chronic lymphoproliferative disorders. Among these individuals, expansion of ≥2 B-cell clones has been frequently reported; potentially, such coexisting clones have a greater probability of interaction with common immunological determinants. Here, we comparatively analyzed the B-cell receptor repertoire and the molecular profile, as well as the phenotypic, cytogenetic and hematological features of 228 chronic lymphocytic leukemia-like and non-chronic lymphocytic leukemia-like clones between multiclonal (n=85 clones from 41 cases) versus monoclonal (n=143 clones) monoclonal B-cell lymphocytosis, chronic lymphocytic leukemia and other B-cell chronic lymphoproliferative disorders. The B-cell receptor of B-cell clones from multiclonal cases showed a slightly higher degree of HCDR3 homology than B-cell clones from monoclonal cases, in association with unique hematological (e.g. lower B-lymphocyte counts) and cytogenetic (e.g. lower frequency of cytogenetically altered clones) features usually related to earlier stages of the disease. Moreover, a subgroup of coexisting B-cell clones from individual multiclonal cases which were found to be phylogenetically related, showed unique molecular and cytogenetic features: they more frequently shared IGHV3 gene usage, shorter HCDR3 sequences with a greater proportion of IGHV mutations and del(13q14.3), than other unrelated B-cell clones. These results would support the antigen-driven nature of such multiclonal B-cell expansions, with potential involvement of multiple antigens/epitopes.
- Phenotypic profile of expanded NK cells in chronic lymphoproliferative disorders: a surrogate marker for NK-cell clonalityPublication . Bárcena, P; Jara-Acevedo, M; Tabernero, MD; López, A; Sánchez, ML; García-Montero, AC; Muñoz-García, N; Vidriales, MB; Paiva, A; Lecrevisse, Q; Lima, M; Langerak, AW; Böttcher, S; van Dongen, JM; Orfão, A; Almeida, JCurrently, the lack of a universal and specific marker of clonality hampers the diagnosis and classification of chronic expansions of natural killer (NK) cells. Here we investigated the utility of flow cytometric detection of aberrant/altered NK-cell phenotypes as a surrogate marker for clonality, in the diagnostic work-up of chronic lymphoproliferative disorders of NK cells (CLPD-NK). For this purpose, a large panel of markers was evaluated by multiparametric flow cytometry on peripheral blood (PB) CD56(low) NK cells from 60 patients, including 23 subjects with predefined clonal (n = 9) and polyclonal (n = 14) CD56(low) NK-cell expansions, and 37 with CLPD-NK of undetermined clonality; also, PB samples from 10 healthy adults were included. Clonality was established using the human androgen receptor (HUMARA) assay. Clonal NK cells were found to show decreased expression of CD7, CD11b and CD38, and higher CD2, CD94 and HLADR levels vs. normal NK cells, together with a restricted repertoire of expression of the CD158a, CD158b and CD161 killer-associated receptors. In turn, NK cells from both clonal and polyclonal CLPD-NK showed similar/overlapping phenotypic profiles, except for high and more homogeneous expression of CD94 and HLADR, which was restricted to clonal CLPD-NK. We conclude that the CD94(hi)/HLADR+ phenotypic profile proved to be a useful surrogate marker for NK-cell clonality.