PubMed | Royal Sussex County Hospital, University of Cape Town, University of Rome Tor Vergata, Sydney Childrens Hospital and 23 more.
Type: Journal Article | Journal: Orphanet journal of rare diseases | Year: 2017
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort.Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12months, or newly diagnosed individuals were included. The registry includes a core section designed to record detailed background information on each patient including disease manifestations, interventions, and outcomes collected at baseline and updated annually. Subsections of the registry recorded additional data related to specific features of TSC.Baseline core data from 2093 patients enrolled from 170 sites across 31 countries were available at the cut-off date September 30, 2014. Median age of patients at enrollment was 13years (range, 0-71) and at diagnosis of TSC was 1year (range, 0-69). The occurrence rates of major manifestations of TSC included - cortical tubers (82.2%), subependymal nodules (78.2%), subependymal giant cell astrocytomas (24.4%), renal angiomyolipomas (47.2%), lymphangioleiomyomatosis (6.9%), cardiac rhabdomyomas (34.3%), facial angiofibromas (57.3%), forehead plaque (14.1%), 3 hypomelanotic macules (66.8%), and shagreen patches (27.4%). Epilepsy was reported in 1748 (83.5%) patients, of which 1372 were diagnosed at2years (78%). Intellectual disability was identified in 451 (54.9%) patients of those assessed. TSC-associated neuropsychiatric disorders (TAND) were diagnosed late, and not evaluated in 30-50% of patients.TOSCA is the largest clinical case series of TSC to date. It provided a detailed description of the disease trajectory with increased awareness of various TSC manifestations. The rates of different features of TSC reported here reflect the age range and referral patterns of clinics contributing patients to the cohort. Documentation of TAND and LAM was poor. A widespread adoption of the international TSC assessment and treatment guidelines, including use of the TAND Checklist, could improve surveillance. The registry provides valuable insights into the necessity for monitoring, timing, and indications for the treatment of TSC.
PubMed | University of Porto, Hospital Of Santa Maria, University of Lisbon and Centro Hospitalar Lisbon Ocidental
Type: Journal Article | Journal: Pediatric pulmonology | Year: 2016
Two key limitations hamper intervention research in bronchiolitis: the absence of a clear definition of disease, and the heterogeneous choice of outcome measures in current clinical trials. We assessed how paediatricians and general practitioners (GPs) perceived definition and clinically important outcomes in bronchiolitis.A nationwide online survey (ABBA study) was conducted through the Portuguese Society of Paediatrics and GPs mailing lists. We assessed agreement with statements on bronchiolitis definition, and participants were asked to score the relative importance of several outcomes. Principal component analysis (PCA) explored dimensions underlying disease definition. Outcomes were ranked by mean score and proportion given highest score.We included 514 paediatricians and 165 GPs (overall 59% were board-certified). Most paediatricians (76.5%) agreed with a definition based on coryza, wheezing and/or crackles/rales, compared to 38.1% GPs (P<0.001). Less than 5% physicians agreed with a definition commonly used in clinical trials (<12 months, first episode of wheeze). We retained three dimensions on PCA: one based on coryza, rales/crepitations and no sudden onset; another on number of episodes and age; and a third on wheeze. Dimensions varied by physician specialization and training (P<0.01). Hospital admission and respiratory distress were top rated outcomes by both groups of physicians.Physician definitions of bronchiolitis have considerable variability and often mismatch those of clinical trials. Rating of important outcomes was consistent. Our results highlight the need for a robust standardized definition of acute bronchiolitis in infants and support the development of a core outcome set for future clinical trials. Pediatr Pulmonol. 2016;51:724-732. 2015 Wiley Periodicals, Inc.
PubMed | University Utrecht, Medical University of Warsaw, University of Oslo, University of Basel and 9 more.
Type: Journal Article | Journal: Drugs | Year: 2016
Tuberous sclerosis complex (TSC) is a genetic disorder arising from mutations in the TSC1 or TSC2 genes. The resulting over-activation of the mammalian target of rapamycin (mTOR) signalling pathway leaves patients with TSC susceptible to the growth of non-malignant tumours in multiple organs. Previously, surgery was the main therapeutic option for TSC. However, pharmacological therapy with mTOR inhibitors such as everolimus and sirolimus is now emerging as an alternate approach. Everolimus and sirolimus have already been shown to be effective in treating subependymal giant cell astrocytoma (SEGA) and renal angiomyolipoma (AML), and everolimus is currently being evaluated in treating TSC-related epilepsy. In November 2013 a group of European experts convened to discuss the current options and practical considerations for treating various manifestations of TSC. This article provides evidence-based recommendations for the treatment of SEGA, TSC-related epilepsy and renal AML, with a focus on where mTOR inhibitor therapy may be considered alongside other treatment options. Safety considerations regarding mTOR inhibitor therapy are also reviewed. With evidence of beneficial effects in neurological and non-neurological TSC manifestations, mTOR inhibitors may represent a systemic treatment for TSC.
PubMed | Hospital Garcia Of Orta, National Institute of Health, Hospital Of Braga, Centro Hospitalar Lisbon Ocidental and Centro Hospitalar iversitario Of Coimbra
Type: Journal Article | Journal: Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases | Year: 2016
Clostridium difficile infection (CDI) represents a great healthcare burden in developed countries. The emergence of the epidemic PCR ribotype (RT) 027 and its acquired fluoroquinolones resistance have accentuated the need for an active surveillance of CDI. Here we report the first countrywide study of CDI in Portugal with the characterization of 498 C.difficile clinical isolates from 20 hospitals in four regions in Portugal regarding RT, virulence factors and antimicrobial susceptibility. We identified 96 RTs with marked variations between and within regions, as only six RTs appeared in all four regions. RT027 was the most frequent RT overall (18.5%) and among healthcare facility-associated isolates (19.6%), while RT014 was the most common among community-associated isolates (12%). The north showed a high RT diversity among isolates and a low moxifloxacin (MXF) resistance rate (11.9%), being the only region in which RT027 was not predominant. In contrast, the isolates from the centre presented the highest RT027 frequency, and 53.4% were resistant to MXF. Overall, MXF resistance (33.2%) was associated (p<0.001) with the presence of binary toxin genes and mutations in tcdC regardless of the RT. Both traits appeared in almost 30% of the strains. RT027 showed a reduced susceptibility to metronidazole (p<0.01), and RT126 had higher minimum inhibitory concentrations to vancomycin (p = 0.03) compared to other RTs. The present study highlights an unusual heterogeneity of RTs in Portugal, with a high frequency of hypervirulent RTs and the emergence of virulence factors in non-027 RTs, emphasizing the need for a surveillance system for CDI in Portugal.
PubMed | Centro Hospitalar Sao Joao, Centro Hospitalar Lisbon Norte, Centro Hospitalar Universitario Of Coimbra, Centro Hospitalar do Porto and 2 more.
Type: Journal Article | Journal: Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis | Year: 2016
Several clinical settings are associated with specific coagulopathies that predispose to uncontrolled bleeding. With the growing concern about the need for optimizing transfusion practices and improving treatment of the bleeding patient, a group of 9 Portuguese specialists (Share Network Group) was created to discuss and develop algorithms for the clinical evaluation and control of coagulopathic bleeding in the following perioperative clinical settings: surgery, trauma, and postpartum hemorrhage. The 3 algorithms developed by the group were presented at the VIII National Congress of the Associao Portuguesa de Imuno-hemoterapia in October 2013. They aim to provide a structured approach for clinicians to rapidly diagnose the status of coagulopathy in order to achieve an earlier and more effective bleeding control, reduce transfusion requirements, and improve patient outcomes. The group highlights the importance of communication between different specialties involved in the care of bleeding patients in order to achieve better results.
Leal A.J.R.,Hospital Julio Of Matos |
Leal A.J.R.,University of Lisbon |
Lopes R.,University of Coimbra |
Ferreira J.C.,Centro Hospitalar Lisbon Ocidental
Clinical Neurophysiology | Year: 2013
Objective: The aim of the study was to demonstrate the dynamics and structure of the epileptic network and provide a tentative correlation with the clinical manifestations, in a symptomatic case of Panayiotopoulos syndrome (PS). Methods: JP, 5-year-old girl. Gestational period and developmental milestones were normal. At age 4. years, two episodes of recurrent vomiting, tonic eye deviation and consciousness impairment lasting for about 30. min occurred. Multifocal spikes were apparent over frontal areas in the EEG and MRI demonstrated an inferior parietal lobe (IPL) lesion. Results: A long-term 35-channel scalp EEG was obtained, which was processed with a Blind Source Separation algorithm. The most significant components with a dipolar field were submitted to source analysis and the recovered generators used to build the nodes of a brain network associated with each spike type. Analysis of information flow supported epileptic propagation from the left parietal lobe to both frontal and temporal lobes around spike peak. The good spatial overlap with physiological networks controlling eye movements, autonomic functions and consciousness, provides a tentative explanation to the diverse clinical manifestations of PS. Conclusions: Spreading patterns of epileptic activity form an extended network in PS. Significance: An epileptic focus in an IPL can reproduce both neurophysiological and clinical features of PS. © 2012 International Federation of Clinical Neurophysiology.
Ribeiro C.,University of Lisbon |
Antunes T.,University of Lisbon |
Monteiro M.,Centro Hospitalar Lisbon Ocidental |
Pereira J.,University of Lisbon
2013 5th International Conference on Games and Virtual Worlds for Serious Applications, VS-GAMES 2013 | Year: 2013
Medical knowledge has increased exponentially in the last decades. Healthcare professionals face a life- time challenge in medical education right from the beginning of medical school. They experience serious difficulties to keep updated. Traditional adult education, largely used in medical training, shows little effectiveness. Problem-based-learning has been proposed as a student-centred pedagogy to overcome failure of traditional medical instruction. A more recent trend is related to the use of serious games. Although, there are still few examples of serious games for medical education, the increased interest shown in the latest years shows that this is an important area and with a lot of potential to explore. In this paper we present the serious game Critical Transport, targeted at medical students with the aim to teach and train the recommendations for the transport of critically ill patients. This game was designed and validated with physicians of an academic hospital and tested during a formal class. © 2013 IEEE.
Horta M.,Centro Hospitalar Lisbon Ocidental |
Horta M.,University of Lisbon |
Cunha T.M.,Instituto Portugues Of Oncologia Of Lisbon Francisco Gentil
Diagnostic and Interventional Radiology | Year: 2015
Ovarian sex cord-stromal tumors are infrequent and represent approximately 7% of all primary ovarian tumors. This histopathologic ovarian tumor group differs considerably from the more prevalent epithelial ovarian tumors. Although sex cord-stromal tumors present in a broad age group, the majority tend to present as a low-grade disease that usually follows a nonaggressive clinical course in younger patients. Furthermore, because the constituent cells of these tumors are engaged in ovarian steroid hormone production (e.g., androgens, estrogens, and corticoids), sex cord-stromal tumors are commonly associated with various hormone-mediated syndromes and exhibit a wide spectrum of clinical features ranging from hyperandrogenic virilizing states to hyperestrogenic manifestations. The World Health Organization sex cord-stromal tumor classification has recently been revised, and currently these tumors have been regrouped into the following clinicopathologic entities: pure stromal tumors, pure sex cord tumors, and mixed sex cord-stromal tumors. Moreover, some entities considered in the former classification (e.g., stromal luteoma, stromal tumor with minor sex cord elements, and gynandroblastoma) are no longer considered separate tumors in the current classification. Herein, we discuss and revise the ultrasonography, computed tomography, and magnetic resonance imaging characteristics of the different histopathologic types and clinicopathologic features of sex cord-stromal tumors to allow radiologists to narrow the differential diagnosis when facing ovarian tumors. © Turkish Society of Radiology 2015
PubMed | Hospital Clinico Universitario Santiago Of Compostela and Centro Hospitalar Lisbon Ocidental
Type: Journal Article | Journal: Case reports in gastroenterology | Year: 2017
A 69-year-old male patient was incidentally diagnosed with a 5-mm lesion in the pancreatic tail by endoscopic ultrasound (EUS). After contrast-enhanced EUS and EUS-elastography, all imaging features were highly suggestive of a benign pancreatic solid lesion such as an intrapancreatic accessory spleen (IPAS) or a benign neuroendocrine tumor. Interposition of the splenic artery precluded EUS-guided fine-needle aspiration (FNA). When an asymptomatic pancreatic mass is detected, IPAS diagnosis should be considered, and, if EUS-FNA is infeasible, contrast-enhanced EUS and EUS-elastography are useful tools to differentiate a pancreatic benign lesion as IPAS from a malignancy, with avoidance of unnecessary surgery.
PubMed | Centro Hospitalar Alto Ave and Centro Hospitalar Lisbon Ocidental
Type: Case Reports | Journal: Brazilian journal of anesthesiology (Elsevier) | Year: 2016
Steinerts disease is an intrinsic disorder of the muscle with multisystem manifestations. Myotonia may affect any muscle group, is elicited by several factors and drugs used in general anesthesia like hypnotics, sedatives and opioids. Although some authors recommend the use of regional anesthesia or combined anesthesia with low doses of opioids, the safest anesthetic technique still has to be established. We performed a continuous spinal anesthesia in a patient with Steinerts disease undergoing laparoscopic cholecystectomy using 10mg of bupivacaine 0.5% and provided ventilatory support in the perioperative period. Continuous spinal anesthesia was safely used in Steinerts disease patients but is not described for laparoscopic cholecystectomy. We reported a continuous spinal anesthesia as an appropriate technique for laparoscopic cholecystectomy and particularly valuable in Steinerts disease patients.