1,359 research outputs found
Surgery of chest wall deformities
OBJECTIVE: To evaluate the medium-term results of 77 surgical corrections in patients with chest wall deformities, 53 (68.8%) with pectus excavatum and 24 with pectus carinatum, operated upon from 1985 to 1994.
METHODS: The mean age of the patients was 14.7 years (4-39 years) and 77% were younger than 15 years of age. There were 59 male (76.7%) and 18 female patients. Only four had a family history of the malformation. Seven patients (9.1%) presented with asthma-like symptoms, and 13 (16.9%) referred dyspnea and tiredness for small efforts. The remainder (74.2%) were asymptomatic, but most were psychologically disturbed by the deformity and postural abnormality. Two patients had other skeletal abnormalities. The modified surgical technique used in all cases consisted of subperichondrial resection of the abnormal costal cartilages, transverse and longitudinal osteotomies of the sternum and internal stabilization with a steel rod which was generally removed between 6 and 12 months postoperatively.
RESULTS: There was neither early nor late mortality. One patient had a pneumothorax which required chest tube drainage. The mean admission time was 10.5 days (8-14 days). Follow-up was complete, and 90% of the patients had increased effort tolerance. Five of the seven patients (72%) with 'asthmatic' symptoms showed a decrease in the frequency of the crises. Two patients had recurrence of the depression by 3 and 8 months, respectively. The remaining 75 patients (97.3%) were satisfied with the cosmetic result of the surgery.
CONCLUSIONS: Surgical treatment of chest wall deformities using this technique leads to good cosmetic, orthopedic and psychological results. We believe that the operations should be performed at any age in patients who have at least a moderate deformity
Quality of life in failed back surgery syndrome
Objectives: Assessment of self-perceived health status and quality of life in a sample of patients with failed back
surgery syndrome (FBSS) and analysis of correlations between the bodily pain dimension of the SF-36, the
remaining dimensions of the same instrument and patients clinical data.
Methods: Cross-sectional study with convenience sampling that included 40 patients with FBSS observed in PMR
consultation between January and October 2010. Clinical data were recorded and the Portuguese version of SF-36
was self-administered. SPSS 17.0 was used for statistical analysis.
Results: The mean score in all subscales of the SF-36 was less than 50 points except in social function. There was a
significant correlation coefficient between the bodily pain domain and physical functioning, mental health, social
functioning and role emotional domains. There was a stronger statistical correlation in the last two cases. There
was also a statistically significant correlation between bodily pain and number of surgeries that patients
underwent.
Conclusion: This sample of patients with FBSS presented SF-36 results that reflect a self-perception of decreased
quality of life. Bodily pain, being related to other dimensions, has obvious implications in the quality of life of these
patients, which suggests and reinforces the importance of describing the experience of pain as a multifactorial
process
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes
Familial Hypercholesterolaemia (FH) is a monogenic disorder characterised by high LDL-C concentrations and increased cardiovascular risk. However, in clinically defined FH cohorts worldwide, an FH-causing variant is only found in 40-50% of the cases. The aim of this work was to characterise the genetic cause of the FH phenotype in Portuguese clinical FH patients. Methods and Results Between 1999 and 2017, 731 index patients (311 children and 420 adults) who met the Simon Broome diagnostic criteria had been referred to our laboratory. LDLR, APOB, PCSK9, APOE, LIPA, LDLRAP1, ABCG5/8 genes were analysed by PCR amplification and Sanger sequencing. The 6-SNP LDL-C genetic risk score (GRS) for polygenic hypercholesterolaemia was validated in the Portuguese population and cases with a GRS over the 25th percentile were considered to have a high likelihood of polygenic hypercholesterolaemia. An FH-causing mutation was found in 39% of patients (94% in LDLR, 5% APOB and 1% PCSK9), while at least 29% have polygenic hypercholesterolaemia and 1% have other lipid disorders. A genetic cause for the FH phenotype was found in 503 patients (69%). All known causes of the FH phenotype should be investigated in FH cohorts to ensure accurate diagnosis and appropriate management. This article is protected by copyright. All rights reserved
Targeted Next-Generation Sequencing Study in Familial ALS-FTD Portuguese Patients Negative for C9orf72 HRE
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with clinical and etiological heterogeneity and a complex genetic contribution. Clinical, neuropathological, and genetic evidence revealed that ALS and frontotemporal dementia (FTD) are in part of a single disease continuum. Genetic causes have been identified in sporadic (SALS) and familial patients (FALS) and the recurrent genetic factor underlying ALS and FTD is the C9orf72 hexanucleotide repeat expansion (HRE). However, in our population, the concomitance of ALS and FTD cannot be explained by C9orf72 HRE in many FALS and SALS cases. Our aim is to further understand the genetic basis of ALS in Portuguese patients. 34 patients with FALS or SALS-FTD, negative for C9orf72 HRE, were screened for rare variants in a panel of 29 relevant genes by next-generation sequencing. We detected 15 variants in 11 genes, one classified as pathogenic in TARDBP, two as likely pathogenic in TARDBP and PRPH, and the others as variants of unknown significance (VUS). Gene variants, including VUS, were found in 41.2% FALS patients and 40% SALS-FTD. In most patients, no potential pathogenic variants were found. Our results emphasize the need to enhance the efforts to unravel the genetic architecture of ALS-FTD.info:eu-repo/semantics/publishedVersio
Upturn in secondary forest clearing buffers primary forest loss in the Brazilian Amazon
Brazil contains two-thirds of remaining Amazonian rainforests and is responsible for the most Amazon forest loss. Primary forest loss in the Brazilian Amazon has declined considerably since 2004 but secondary forest loss has never been quantified. We use a recently developed high-resolution land use/land cover dataset to track secondary forests in the Brazilian Amazon over 14 yr, providing the first estimates of secondary forest loss for the region. We find that secondary forest loss increased by (187 ± 48)% from 2008 to 2014. Moreover, the proportion of total forest loss accounted for by secondary forests rose from (37 ± 3)% in 2000 to (72 ± 5)% in 2014. The recent acceleration in secondary forests loss occurred across the entire region and was not driven simply by increasing secondary forest area but probably a conscious preferential shift towards clearance of a little-protected forest ecosystem (secondary forests). Our results suggest that secondary forests loss has eased deforestation pressure on primary forests. However, this has been at the expense of a lost carbon sequestration opportunity of 2.59–2.66 Pg C over our study period
Prevalência de alunos de escolas de Braga expostos ao fumo ambiental do tabaco em casa, antes e após a aplicação da lei antitabágica: estudo transversal
Determinantes individuais e contextuais da cárie em crianças brasileiras de 12 anos em 2010
Use of construction and demolition recycled materials (C&Drm) in road pavements validated on experimental test sections
The construction activity usually generates large amounts of waste from different sources and processes. Due to the increasing shortage of space for landfill implementation and the costs associated with waste control regulations, derived from its ever increasing environmental protection requirements, the most desirable alternative is the reduction of construction and demolition waste volumes by means of their reuse and recycling. A research project, SUPREMA - Sustainable Application of Construction and Demolition Recycled Materials (C&DRM) in Road Infrastructures, is being developed by the National Laboratory for Civil Engineering (LNEC), and by the University of Lisbon (IST). This project seeks to contribute to the sustainable implementation of C&DRM in road pavements by improving the knowledge of the physical, mechanical and environmental behaviour of these materials when placed as aggregates in unbound pavement layers. Besides a general presentation of the research project and the construction procedures of a test pit structure where four different materials were applied, this paper presents some results related to the characteristics of the studied materials, supported by laboratory and by in situ tests performed with the FWD in the test pit structure. It was concluded that all materials demonstrate an acceptable structural performance
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