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Expression and function of K(ATP) channels in normal and osteoarthritic human chondrocytes: Possible role in glucose sensing

Rufino, AT; Rosa, SC; Judas, F; Mobasheri, A; Lopes, MC; Mendes, AF
Fonte: Wiley Publicador: Wiley
Tipo: Artigo de Revista Científica
Publicado em //2013 Português

Cavilha cefalomedular antirrotativa versus placa e parafuso dinâmico no tratamento de fraturas trocantéricas instáveis da anca.

Pais, N; Brandão, A; Judas, F
Fonte: Serviço de Ortopedia Publicador: Serviço de Ortopedia
Tipo: Livro
Publicado em //2014 Português
As fraturas da extremidade superior do fémur, nomeadamente as fraturas trocantéricas, continuam a representar um sério problema de saúde pública em idosos com osteoporose, presentando um elevado índice de morbilidade e mortalidade, apesar dos avanços registados tanto na sua prevenção como no seu tratamento. Apenas o tratamento cirúrgico pode permitir uma marcha e uma recuperação funcional precoces, por forma que o doente consiga uma autonomia próxima da anterior à lesão. Para isso, o ortopedista dispõe atualmente de um leque alargado de implantes cirúrgicos que não tem, todavia, o mesmo valor e indicações, estando na dependência da “personalidade da fratura”. O objetivo central deste trabalho foi determinar, através de um estudo comparativo, os resultados radiológicos, clínicos e ortopédicos de uma série de 116 fraturas trocantéricas instáveis do fémur (AO 31 A2), em que se utilizaram dois tipos diferentes de implantes, a cavilha cefaloendomedular antirrotativa (PFNA®) e placa e parafuso dinâmico (DHS®). Foram analisados os registos clínicos de 116 doentes com fraturas trocantéricas instáveis, com um tempo de recuo igual ou superior a 12 meses. 66 casos foram tratados com DHS® e os restantes 50 com PFNA®. Procedeu-se ao registo do tempo operatório...

Drug-Induced Anaphylaxis Survey in Portuguese Allergy Departments

Faria, E; Rodrigues-Cernadas, J; Gaspar, A; Botelho, C; Castro, E; Portuguese Society of Allergology and Clinical Immunology; Drug Allergy Interest Group.; et al
Fonte: Centro Hospitalar e Universitário de Coimbra Publicador: Centro Hospitalar e Universitário de Coimbra
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
BACKGROUND AND OBJECTIVE: Drug-induced anaphylaxis is an unpredictable and potentially fatal adverse drug reaction. The aim of this study was to identify the causes of drug-induced anaphylaxis in Portugal. METHODS: During a 4-year period a nationwide notification system for anaphylaxis was implemented, with voluntary reporting by allergists. Data on 313 patients with drug anaphylaxis were received and reviewed. Statistical analysis included distribution tests and multiple logistic regression analysis to investigate significance, regression coefficients, and marginal effects. RESULTS: The mean (SD) age of the patients was 43.8 (17.4) years, and 8.3% were younger than 18 years. The female to male ratio was 2:1.The main culprits were nonsteroidal anti-inflammatory drugs (NSAIDs) (47.9% of cases), antibiotics (35.5%), and anesthetic agents (6.1%). There was a predominance of mucocutaneous symptoms (92.2%), followed by respiratory symptoms (80.4%) and cardiovascular symptoms (49.0%). Patients with NSAID-induced anaphylaxis showed a tendency towards respiratory and mucocutaneous manifestations. We found no significant associations between age, sex, or atopy and type of drug. Anaphylaxis recurrence was observed in 25.6% of cases, and the risk was higher when NSAIDs were involved. CONCLUSIONS: NSAIDs were the most common cause of anaphylaxis in this study and were also associated with a higher rate of recurrence. We stress the need for better therapeutic management and prevention of recurring episodes of drug-induced anaphylaxis.

A Curious Case of Exercise-Induced Wheat Allergy in Adulthood

Carrapatoso, I; Santos, AF; Faria, E; Segorbe-Luís, A
Fonte: Centro Hospitalar e Universitário de Coimbra Publicador: Centro Hospitalar e Universitário de Coimbra
Tipo: Artigo de Revista Científica
Publicado em //2014 Português

Necrotizing Faciitis after Shoulder Mobilization and Intra-Articular Infiltration with Betametasone

Bento-Rodrigues, J; Judas, F; Pedrosa-Rodrigues, J; Oliveira, J; Simões, P; Lucas, F; Pais-Lopes, A
Fonte: Centro Hospitalar e Universitário de Coimbra Publicador: Centro Hospitalar e Universitário de Coimbra
Tipo: Artigo de Revista Científica
Publicado em //2013 Português

Cemented total hip arthroplasty with retention of some existing hardware

Judas, F; Rodrigues, JB; Lucas, FM; Freitas, JP
Fonte: Centro Hospitalar e Universitário de Coimbra Publicador: Centro Hospitalar e Universitário de Coimbra
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
We report a case of a 63-year-old man who presented an end stage hip osteoarthritis 42 years after a proximal femoral osteotomy performed for the treatment of an intracapsular femoral neck fracture. A cemented total hip arthroplasty was implanted using a standard posterior approach. The osteotomy hardware was totally covered with a new cortical bone formation. A layer of bone tissue was removed, the screw heads were broken and the nail plate was also removed. The screw threaded portions were retained because they did not interfere with cemented femoral stem implantation. Fourteen years after total hip arthroplasty, the patient reported no pain and expressed high satisfaction with the surgery. The hip radiograph showed wear of the polyethylene cup and no periprosthetic osteolysis. Retention of hardware can be considered, especially in patients who have had hardware for several years, without any negative symptoms.

Melanoma: when dermoscopy is a pitfall

Teixeira, V; Serra, D; Vieira, R; Figueiredo, A; Julião, MJ
Fonte: Wiley Publicador: Wiley
Tipo: Artigo de Revista Científica
Publicado em //2014 Português

Circulating cell-free DNA levels in Portuguese patients with psoriasis vulgaris according to severity and therapy.

Coimbra, S; Catarino, C; Costa, E; Oliveira, H; Figueiredo, A; Rocha-Pereira, P; Santos-Silva, A
Fonte: Wiley Publicador: Wiley
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
associated with inflammation. OBJECTIVES: We aimed to understand the relation of CFD levels with psoriasis severity, defined by the Psoriasis Area and Severity Index (PASI), with inflammation and with psoriasis therapy. METHODS: Forty-six patients with psoriasis vulgaris were evaluated before (T0) and after 12 weeks (T12) of treatment with narrowband ultraviolet light B (NB-UVB; n = 17), psoralen plus UVA (PUVA; n = 20) or topical therapy (n = 9). We evaluated interleukin (IL)-6 and circulating CFD levels. RESULTS: Compared with controls, at T0, patients presented significantly higher levels of circulating CFD. CFD presented a significant positive correlation with IL-6 and a trend towards a positive correlation with PASI. Multiple linear regression analysis identified IL-6 as an independent variable associated with CFD circulating levels. As shown by the PASI score, a trend towards higher values of CFD was observed in the severe psoriasis forms; moderate and severe psoriasis presented also significantly higher CFD values, compared with control. Both NB-UVB and PUVA treatments significantly decreased the levels of CFD. CONCLUSIONS: Patients with psoriasis, at the active stage of the disease, presented an increased inflammation associated with raised circulating CFD levels...

Urticaria after ingestion of alcoholic beverages.

Ribeiro, F; Sousa, N; Carrapatoso, I; Segorbe-Luís, A
Fonte: Centro Hospitalar e Universitário de Coimbra Publicador: Centro Hospitalar e Universitário de Coimbra
Tipo: Artigo de Revista Científica
Publicado em //2014 Português

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Pinto, D; Delaby, E; Merico, D; Barbosa, M; Merikangas, A; Oliveira, G; et al
Fonte: Elsevier Publicador: Elsevier
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.

The impact of the metabotropic glutamate receptor and other gene family interaction networks on the autism spectrum disorders

Hadley, D; Wu, ZL; Kao, C; Kini, A; Mohamed-Hadley, A; AGP Consortium; Oliveira, G; et al
Fonte: Nature Publishing Group Publicador: Nature Publishing Group
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful drugs target large gene families with multiple drug binding sites. Here we search for defective gene family interaction networks (GFINs) in 6,742 patients with the ASDs relative to 12,544 neurologically normal controls, to find potentially druggable genetic targets. We find significant enrichment of structural defects (P ≤ 2.40E-09, 1.8-fold enrichment) in the metabotropic glutamate receptor (GRM) GFIN, previously observed to impact attention deficit hyperactivity disorder (ADHD) and schizophrenia. Also, the MXD-MYC-MAX network of genes, previously implicated in cancer, is significantly enriched (P ≤ 3.83E-23, 2.5-fold enrichment), as is the calmodulin 1 (CALM1) gene interaction network (P ≤ 4.16E-04, 14.4-fold enrichment), which regulates voltage-independent calcium-activated action potentials at the neuronal synapse. We find that multiple defective gene family interactions underlie autism, presenting new translational opportunities to explore for therapeutic interventions.

Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology

Correia, F; Café, C; Almeida, J; Mouga, S; Oliveira, G
Fonte: Springer Publicador: Springer
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
Autism 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.

Autoria na Publicação Científica

Donato, H
Fonte: Sociedade Portuguesa de Medicina Física e de Reabilitação Publicador: Sociedade Portuguesa de Medicina Física e de Reabilitação
Tipo: Artigo de Revista Científica
Publicado em //2014 Português

Left atrial reservoir phase: deformation analysis

Teixeira, R; Vieira, MJ; Gonçalves, L
Fonte: Centro Hospitalar e Universitário de Coimbra Publicador: Centro Hospitalar e Universitário de Coimbra
Tipo: Artigo de Revista Científica
Publicado em //2013 Português

Accidental finding of a giant right coronary artery aneurysm associated with a fistula to the right atrium

Vaz-Silva, P; Marinho, J; Pires, A
Fonte: Cambridge Publicador: Cambridge
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
Coronary artery fistulae are uncommon but may be haemodynamically significant, being an incidental finding in 0.1-0.2% of coronary angiograms. Even rarer is the association between fistulae and non-atherosclerotic coronary artery aneurysms. They most frequently originate in the right coronary artery, and the right cardiac chambers are the most common draining chambers. Most children are asymptomatic, whereas those older than 20 years may present with signs of congestive heart failure, infective endocarditis, myocardial ischaemia, or aneurysm rupture. Management is either surgical or via percutaneous means. We report the case of a 5-year-old child referred for assessment of an asymptomatic cardiac murmur. The echocardiographic evaluation showed an enlarged right atrium, a fenestrated atrial septal defect, and a giant right coronary artery aneurysm with a fistulous tract that appeared to drain directly into the right atrium. Computed angiocardiac tomography and cardiac catherisation confirmed the presence of a large right coronary fistula originating from the right coronary aneurysm draining into the right atrium. The patient underwent surgical ligation of the fistula and the post-operative course has been uneventful. He is currently on double antiaggregation therapy.

Bactérias Multirresistentes Associadas aos Cuidados de Saúde num Hospital Pediátrico: Experiência de Cinco Anos Cuidados de Saúde num Hospital Pediátrico: Experiência de Cinco Anos

Mação, P; Lopes, JC; Oliveira, H; Oliveira, G; Rodrigues, F
Fonte: Centro Hospitalar e Universitário de Coimbra Publicador: Centro Hospitalar e Universitário de Coimbra
Tipo: Artigo de Revista Científica
Publicado em //2013 Português
INTRODUCTION: In recent years there has been an increase of infections caused by multidrug-resistant bacteria. Paediatric data are scarce, particularly at national level. AIMS: To analyse trends of health-care associated multidrug-resistant bacteria infections in a paediatric hospital. MATERIAL AND METHODS: A retrospective incidence study was conducted in medical, surgical and intensive care wards in a level III paediatric hospital, from January 2005 to December 2009. The studied multidrug-resistant bacteria were methicillin-resistant Staphylococcus aureus (MRSA), ESBL-producing bacilli, vancomycin-resistant Enterococcus spp, multidrug-resistant Pseudomonas aeruginosa (PA-MDR) and Acinetobacter baumannii resistant to carbapenems. Demographic, clinical and laboratory data, treatment and presence of risk factors for these infections were analysed. RESULTS: During the study period 106 multidrug-resistant bacteria were identified, related to 72 children, predominantly male (65.3%). The most frequently identified multidrug-resistant bacteria were MRSA (35.8%), PA-MDR (29.2%) and ESBL-producing bacilli (17.9%). Of the 106 multidrug-resistant bacteria, 45 (42.5%) were causing infection. During the study period the annual proportion of infections caused by multidrug-resistant bacteria went up from 32.0% in 2006 to 55.6% in 2009 (p = 0.376). The overall incidence rate of infection was 0.400 per 1 000 hospitalization-days...

Intravitreal ranibizumab for myopic choroidal neovascularization: 12-month results

Silva, RM; Ruiz-Moreno, JM; Rosa, P; Carneiro, A; Nascimento, J; Rito, LF; Cachulo, ML; Carvalheira, F; Murta, JN
Fonte: Centro Hospitalar e Universitário de Coimbra Publicador: Centro Hospitalar e Universitário de Coimbra
Tipo: Artigo de Revista Científica
Publicado em //2010 Português
PURPOSE: The purpose of this study was to evaluate the safety and efficacy of intravitreal ranibizumab after 12 months in the treatment of choroidal neovascularization secondary to pathologic myopia. METHODS: This was a prospective, multicenter, consecutive, nonrandomized, interventional case series. The study included 34 eyes of 32 patients with choroidal neovascularization secondary to pathologic myopia; 13 eyes had previous photodynamic therapy, and 21 eyes had no previous treatment. The patients were followed for > or = 12 months. Best-corrected visual acuity, optical coherence tomography, and the presence of metamorphopsia were assessed monthly. RESULTS: Mean visual acuity improved 8 letters from baseline to 12-month follow-up, and the difference was statistically significant (P < 0.001): 100% of the eyes lost <3 lines on the Early Treatment Diabetic Retinopathy Study chart, 24% of the eyes improved > or = 3 lines, 44% improved > or = 2 lines, 65% improved > or = 1 line, and 79% improved > or = 0 lines. Central retinal thickness decreased significantly from baseline to the 12-month follow-up (P < 0.01). A mean of 3.6 treatments were performed during the 12-month follow-up, and no systemic or ocular side effects were registered during that time. CONCLUSION: One-year results of intravitreal ranibizumab for myopic choroidal neovascularization are very promising. Additional prospective studies are necessary to better determine long-term efficacy and safety.

Erythrocytosis associated with a novel missense mutation in the BPGM gene

Petousi, N; Copley, RR; Lappin, TR; Haggan, SE; Bento, C; Cario, H; Percy, MJ; Consortium, TW; Ratcliffe, PJ; Robbins, PA; McMullin, MF
Fonte: Centro Hospitalar e Universitário de Coimbra Publicador: Centro Hospitalar e Universitário de Coimbra
Tipo: Artigo de Revista Científica
Publicado em //2014 Português

Menstruation disorders in adolescents with eating disorders ? target body mass index percentiles for their resolution

Vale, B; Brito, S; Paulo, L; Moleiro, P
Fonte: Centro Hospitalar e Universitário de Coimbra Publicador: Centro Hospitalar e Universitário de Coimbra
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
Objective To analyse the progression of body mass index in eating disorders and to determine the percentile for establishment and resolution of the disease. Methods A retrospective descriptive cross-sectional study. Review of clinical files of adolescents with eating disorders. Results Of the 62 female adolescents studied with eating disorders, 51 presented with eating disorder not otherwise specified, 10 anorexia nervosa, and 1 bulimia nervosa. Twenty-one of these adolescents had menstrual disorders; in that, 14 secondary amenorrhea and 7 menstrual irregularities (6 eating disorder not otherwise specified, and 1 bulimia nervosa). In average, in anorectic adolescents, the initial body mass index was in 75th percentile; secondary amenorrhea was established 1 month after onset of the disease; minimum weight was 76.6% of ideal body mass index (at 4th percentile) at 10.2 months of disease; and resolution of amenorrhea occurred at 24 months, with average weight recovery of 93.4% of the ideal. In eating disorder not otherwise specified with menstrual disorder (n=10), the mean initial body mass index was at 85th percentile; minimal weight was in average 97.7% of the ideal value (minimum body mass index was in 52nd percentile) at 14.9 months of disease; body mass index stabilization occured at 1.6 year of disease; and mean body mass index was in 73rd percentile. Considering eating disorder not otherwise specified with secondary amenorrhea (n=4); secondary amenorrhea occurred at 4 months...

Anaplastic cutaneous lymphoma mimicking an infection.

Barbosa, L; Brito, MJ; Balaco, I; Noruegas, MJ
Fonte: Centro Hospitalar e Universitário de Coimbra Publicador: Centro Hospitalar e Universitário de Coimbra
Tipo: Artigo de Revista Científica
Publicado em //2014 Português
We present a case of a 17-year-old boy who presented with a skin lesion with extension to the soft tissues of the left thigh. On ultrasound, a homogeneous and hypoechoic expansile formation in the subcutaneous tissue was found, measuring 6.5 × 5 × 3.5 cm, with scarce vascularization. Computed tomography showed a low attenuating neoformation with surrounding edema. An inflammatory disorder was the first diagnosis, but the absence of improvement with antibiotics led us to perform magnetic resonance imaging that showed a high signal lesion on T2-weighted imaging and low intensity signal on T1-weighted imaging and surrounding contrast uptake. Positron emission tomography and computed tomography showed uptake of 18F-fluorodeoxyglucose by the lesion. The final diagnosis was anaplastic cutaneous lymphoma.