Post-transcriptional regulation of HFE gene expression

Thesis presented to obtain the Ph.D. degree in Biology (Molecular Genetics), by the Universidade Nova de Lisboa, Faculdade de Ciências e Tecnologia.

Designing a technology assessment post-graduation programme: experiences, limits and needs

The post-graduation in the field of Technology Assessment (TA) is recent and that are several and different ways to be organised. Most experiences are related with the Masters diplom level (2nd cycle of graduation in high education). Just one in PhD level is explicit in the field of TA, and some other PhD courses include also TA topics in their programme structure. In this chapter we will analyse the problems related with the design of a post-graduation (MA, MSc or PhD) programme in the field of TA using as reference some international experiences. Hereby, the main conclusion seems to address labour market needs in the specialised knowledge of TA, of technology management or technology innovation. In this sense TA should be included as “minor” into post-graduation courses which may range from engineering disciplines to social sciences. As a graduation programme it can fill an expertise gap between technicians, engineers, scientists and the strategic decision makers or policy makers.

Designing a technology assessment post-graduation programme: experiences, limits and needs

IET Working Papers Series No. WPS09/2010

The Vasco da Gama Bridge on the Tagus Estuary: A paradigm of bad decision making, but good post-evaluation

World Transport Policy & Practice, Vol.6, nº2, (2000)

Biochemistry of grape berries: post-genomics approaches to uncover the effects of water deficits on ripening

Dissertation presented to obtain the Ph.D degree in Biochemistry, Plant Physiology

Snakebites by Crotalus durissus ssp in children in Campinas, São Paulo, Brazil

From January, 1984 to March, 1999, 31 children under 15 y old (ages 1-14 y, median 8 y) were admitted after being bitten by rattlesnakes (Crotalus durissus ssp). One patient was classified as "dry-bite", 3 as mild envenoming, 9 as moderate envenoming and 18 as severe envenoming. Most patients had neuromuscular manifestations, such as palpebral ptosis (27/31), myalgia (23/31) and weakness (20/31). Laboratory tests suggesting rhabdomyolysis included an increase in total blood creatine kinase (CK, 28/29) and lactate dehydrogenase (LDH, 25/25) levels and myoglobinuria (14/15). The main local signs and symptoms were slight edema (20/31) and erythema (19/31). Before antivenom (AV) administration, blood coagulation disorders were observed in 20/25 children that received AV only at our hospital (incoagulable blood in 17/25). AV early reactions were observed in 20 of these 25 cases (9/9 patients not pretreated and 11/16 patients pretreated with hydrocortisone and histamine H1 and H2 antagonists). There were no significant differences in the frequency of patients with AV early reactions between the groups that were and were not pretreated (Fisher's exact test, p = 0.12). Patients admitted less than and more than 6 h after the bite showed the same risk of developing severe envenoming (Fisher's exact test, p = 1). No children of the first group (< 6 h) showed severe complications whereas 3/6 children admitted more than 6 h post-bite developed acute renal failure. Patients bitten in the legs had a higher risk of developing severe envenoming (Fisher's exact test, p = 0.04). There was a significant association between both total CK and LDH blood enzyme levels and severity (p < 0.001 for CK and p < 0.001 for LDH; Mann-Whitney U test). No deaths were recorded.

Falso Aneurisma Traumático da Aorta Infrarenal. A Propósito de um Caso Clínico

Abdominal aortic pseudoaneurysms are rare, particularly when they are related to blunt abdominal trauma. The authors report the clinical case of a 65 years old man with an abdominal aortic pseudoaneurysm related to a blunt abdominal trauma, that occurred three years ago. The patient complained of a diffuse abdominal pain, increased while walking. The diagnosis was confirmed by angiography and by angio-CT. An aortic resection and interposition graft was performed, according to the age of the patient and the low operative risk. A discussion on the therapeutic option was made, followed by a revision of the literature on the subject, and the authors conclude by emphasizing the need of a detection of this type of pathology, particularly in patients who had suffered in the past violent trauma.

Tumores do Corpo Carotídeo. Experiência de um Serviço no Diagnóstico e Tratamento nos Últimos 10 Anos

INTRODUCTION: Carotid body tumours (CBT) are neoplasms that develop from paragangionic cells of this structure. They are rare, with an estimated incidence of 1:30000 and can be associated with other neuro-endocrine neoplasia. The authors report their experience in the management of the disease, in the last 10 years. MATERIAL AND METHODS: Eight patients (with eight tumours) were treated, all submitted to tumour resection. 75% were female and the mean age was 56 years. We report a 12,5% incidence of neurological sequelae from surgery, and no mortality. In the follow-up (which varied between 1 and 10 years), no local or contralateral recurrence or metastasis were registered. Also, we did not found family cases of this disease. CONCLUSIONS: The authors noticed an unusually high proportion of female patients. The tumour resection was curative in all patients, with a rate of neurological complications inferior to that reported in other published series. These neurological sequelae were reported in patients with large tumours, thus reinforcing the outmost importance of an early diagnosis. Pre-operative selective embolization of these tumours can be helpful in the resection of large tumours, allowing a potential reduction in neurological complications.

Orbital Exenteration for Eyelid Skin Carcinoma

Exenteration of the orbit is a disfiguring and destructive procedure; it is generally performed for orbital malignancies and often provides a significant reconstructive challenge. Our purpose was to evaluate the clinical indications for orbital exenteration in a tertiary referral center and to assess the reconstructive options employed. A retrospective nonrandomized analysis was performed, selecting all patients undergoing orbital exenteration over a 5-year period, between January 2005 and January 2010. Patient demographics, tumor characteristics, and reconstructive techniques used were evaluated. Twenty patients with a mean age of 76.5 years underwent total orbital exenteration. Basal cell carcinoma was the main operative indication (45%), followed by squamous cell carcinoma (15%). Reconstructive techniques included cover of the raw orbital cavity with a temporal muscular flap in all cases followed with split skin grafting (25%), bilaterally pedicle V-Y advancement flap (10%) and a fasciocutaneous island flap of the retroauricular region (65%). Twenty percent of patients had local complications and all were treated in a satisfactory fashion. Eyelid skin tumors remain an important cause of orbital exenteration. Temporal muscle flap is a reliable and stable reconstructive solution after orbital exenteration and additional aid is supplied with skin grafts or local flaps. This technique ensures a good aesthetic outcome and better situation for later complementary treatments and minimal associated donor site morbidity.

Acute Bivalvular Left-Sided Methicillin-Resistant Staphylococcus Aureus Endocarditis with Cardiac, Cerebral, Renal and Septic Complications

Infective endocarditis (IE) is now rare in developed countries, but its prevalence is higher in elderly patients with prosthetic valves, diabetes, renal impairment, or heart failure. An increase in health-care associated IE (HCAIE) has been observed due to invasive maneuvers (30% of cases). Methicillin-resistant Staphylococcus aureus (MRSA) and Enterococcus are the most common agents in HCAIE, causing high mortality and morbidity. We review complications of IE and its therapy, based on a patient with acute bivalvular left-sided MRSA IE and a prosthetic aortic valve, aggravated by congestive heart failure, stroke, acute immune complex glomerulonephritis, Candida parapsilosis fungémia and death probably due to Serratia marcescens sepsis. The HCAIE was assumed to be related to three temporally associated in-hospital interventions considered as possible initial etiological mechanisms: overcrowding in the hospital environment,iv quinolone therapy and red blood cell transfusion. Later in the clinical course,C. parapsilosis and S. marcescens septicemia were considered to be possible secondary etiological mechanisms of HCAIE.

Cell surface hydrophobicity and adherence of a strain of group B streptococci during the post-antibiotic effect of penicillin

The minimum inhibitory concentration and post-antibiotic effects of an antimicrobial agent are parameters to be taken into consideration when determining its dosage schedules. The in vitro post-antibiotic effects on cell surface hydrophobicity and bacterial adherence were examined in one strain of group B streptococci. Exposure of the microorganism for 2 h at 37 °C to 1 x MIC of penicillin induced a PAE of 1.1 h. The cell surface charge of the Streptococcus was altered significantly during the post-antibiotic phase as shown by its ability to bind to xylene: hydrophobicity was decreased. Bacterial adherence to human buccal epithelial cells was also reduced. The results of the present investigation indicate that studies designed to determine therapeutic regimens should evaluate the clinical significance of aspects of bacterial physiology during the post-antibiotic period.

Ankle anticipatory postural adjustments during gait initiation in healthy and post-stroke subjects

Background: Anticipatory postural adjustments during gait initiation have an important role in postural stability but also in gait performance. However, these first phase mechanisms of gait initiation have received little attention, particularly in subcortical post-stroke subjects, where bilateral postural control pathways can be impaired. This study aims to evaluate ankle anticipatory postural adjustments during gait initiation in chronic post-stroke subjects with lesion in the territory of middle cerebral artery. Methods: Eleven subjects with post-stroke hemiparesis with the ability to walk independently and twelve healthy controls participated in this study. Bilateral electromyographic activity of tibialis anterior, soleus and medial gastrocnemius was collected during gait initiation to assess the muscle onset timing, period of activation/deactivation and magnitude of muscle activity during postural phase of gait initiation. This phase was identified through centre of pressure signal. Findings: Post-stroke group presented only half of the tibialis anterior relative magnitude observed in healthy subjects in contralesional limb (t=2.38, p=0.027) and decreased soleus deactivation period (contralesional limb, t=2.25, p=0.04; ipsilesional limb, t=3.67, p=0.003) as well its onset timing (contralesional limb, t=3.2. p=0.005; ipsilesional limb, t=2.88, p=0.033) in both limbs. A decreased centre of pressure displacement backward (t=3.45, p=0.002) and toward the first swing limb (t=3.29, p=0.004) was observed in post-stroke subjects. Interpretation: These findings indicate that chronic post-stroke subjects with lesion at middle cerebral artery territory present dysfunction in ankle anticipatory postural adjustments in both limbs during gait initiation.

Reliability of Two Methods for Identifying the Postural Phase of Gait Initiation in Healthy and Post-stroke Subjects

This study aims to compare two methods of assessing the postural phase of gait initiation as to intrasession reliability, in healthy and post-stroke subjects. As a secondary aim, this study aims to analyse anticipatory postural adjustments during gait initiation based on the centre of pressure (CoP) displacements in post-stroke participants. The CoP signal was acquired during gait initiation in fifteen post-stroke subjects and twenty-three healthy controls. Postural phase was identified through a baseline-based method and a maximal displacement based method. In both healthy and post-stroke participants higher intra-class correlation coefficient and lower coefficient of variation values were obtained with the baseline-based method when compared to the maximal displacement based method. Post-stroke participants presented decreased CoP displacement backward and toward the first swing limb compared to controls when the baseline-based method was used. With the maximal displacement based method, there were differences between groups only regarding backward CoP displacement. Postural phase duration in medial-lateral direction was also increased in post-stroke participants when using the maximal displacement based method. The findings obtained indicate that the baseline-based method is more reliable detecting the onset of gait initiation in both groups, while the maximal displacement based method presents greater sensitivity for post-stroke participants.