The importance of the general practitioner as an information source for patients with hereditary haemochromatosis.

Objective: To explore hereditary haemochromatosis (HH) patients' perspectives on genetic information, namely the types of sources used, preferred or trusted.

Methods: A survey online was conducted by the European Federation of Associations of Patients with Haemochromatosis (EFAPH) and applied to members of nine National Associations.

Results: From a total of 1019 validated questionnaires, 895 respondents had performed a genetic testing for HH.

Adult mastocytosis: a review of the Santo António Hospital 's experience and an evaluation of World Health Organization criteria for the diagnosis of systemic disease.

Background: Mastocytosis is a clonal disorder characterized by the accumulation of abnormal mast cells in the skin and/or in extracutaneous organs.

Objectives: To present all cases of mastocytosis seen in the Porto Hospital Center and evaluate the performance of World Health Organization diagnostic criteria for systemic disease.

Methods: The cases of twenty-four adult patients with mastocytosis were reviewed.

A case series of gastrointestinal tuberculosis in renal transplant patients.

Tuberculosis is a disease relatively frequent in renal transplant patients, presenting a wide variety of clinical manifestations, often involving various organs and potentially fatal. Gastrointestinal tuberculosis, although rare in the general population, is about 50 times more frequent in renal transplant patients. Intestinal tuberculosis has a very difficult investigational approach, requiring a high clinical suspicion for its diagnosis.

Iron homeostasis in breast cancer.

Iron is an essential element and a critical component of molecules involved in energy production, cell cycle and intermediate metabolism. However, the same characteristic chemistry that makes it so biologically versatile may lead to iron-associated toxicity as a consequence of increased oxidative stress. The fact that free iron accumulates with age and generates ROS led to the hypothesis that it could be involved in the etiogenesis of several chronic diseases.

Interaction of polyacrylic acid coated and non-coated iron oxide nanoparticles with human neutrophils.

Iron oxide nanoparticles (ION), with different coatings and sizes, have attracted extensive interest in the last years to be applied in drug delivery, cancer therapy and as contrast agents in imagiologic techniques such as magnetic resonance imaging. However, the safety of these nanoparticles is still not completely established, particularly to host defense systems that are usually recruited for their clearance from the body. In this paper, given the importance of neutrophils in the immune response of the organism to nanoparticles, the effect of polyacrylic acid (PAA)-coated and non-coated ION on human neutrophils was evaluated in vitro, namely their capacity to activate the oxidative burst and to modify their lifespan.

Burnout in intensive care units - a consideration of the possible prevalence and frequency of new risk factors: a descriptive correlational multicentre study.

Background: The provision of Intensive Care (IC) can lead to a health care provider's physical, psychological and emotional exhaustion, which may develop into burnout. We notice the absence of specific studies regarding this syndrome in Portuguese Intensive Care Units (ICUs). Our main objective is to study the incidence and risk factors of burnout in Portuguese ICUs.

Management of pediatric traumatic macular holes - case report.

Purpose: To report and describe the clinical course of four pediatric traumatic macular hole (TMH) cases and respective management.

Case Report: Four pediatric patients with macular hole following blunt ocular trauma underwent early pars plana vitrectomy, with consecutive hole closure. Initial visual acuity was <20/400 or worse in all patients.

Adjuvant! Online: mind the gap!

The objective of this study was to compare the actual outcome and prognosis estimated by the program Adjuvant! Online for breast cancer in Itajaí (Brazil). It is a retrospective cohort study, post-hoc analysis, in which 214 patients of three institutions were compared in real overall survival (OS) and disease-free survival (DFS) during a 3-year follow-up, and estimated OS and DFS with the program for 10 years by Adjuvant! Online, using the following variables: age, clinical stage, histological grade, lymph node involvement, immunohistochemical subtype and type of adjuvant therapy. The DFS and OS rates in the sample observed and estimated by the program demonstrated correspondence, with the curves trailing beneath the same pattern, due to shorter "real" follow-up (3 versus 10 years).

A case series of de novo inflammatory bowel disease after kidney transplantation.

Diarrhea, which is common after transplantation, may be due to infections and immunosuppressive therapy. Inflammatory bowel disease (IBD) de novo or as an exacerbation of pre-existent disease is a rare complication after kidney transplantation with pre-existing disease having a less aggressive clinical course than the de novo disease. Cytomegalovirus mismatch, prescription of tacrolimus instead of cyclosporine or mycophenolate mofetil rather than azathioprine as well as low-dose corticosteroid treatments have been linked to an increased incidence of IBD.

Triple, simultaneous, very late coronary stent thrombosis.

Coronary artery stent thrombosis is an uncommon but potentially catastrophic complication. The risk of very late stent thrombosis (VLST) raises important safety issues regarding the first generation of drug-eluting stents (DES). Although several complex mechanisms for VLST have been suggested and various predictors have been described, its pathophysiology is not completely understood and it is not known whether longer-term dual antiplatelet therapy reduces the risk.

Ethical decision making in intensive care units: a burnout risk factor? Results from a multicentre study conducted with physicians and nurses.

Background: Ethical decision making in intensive care is a demanding task. The need to proceed to ethical decision is considered to be a stress factor that may lead to burnout. The aim of this study is to explore the ethical problems that may increase burnout levels among physicians and nurses working in Portuguese intensive care units (ICUs).

Olmsted syndrome.

Olmsted syndrome is a rare congenital, sharply circumscribed transgredient palmoplantar keratoderma. It was first described by Olmsted in 1927. The diagnosis of this rare disease depends on clinical features like symmetrical involvement of keratoderma of the palms and soles and the symmetrical hyperkeratotic plaques around the body orifices.

Profile of cancer patients treated at the emergency room of a tertiary cancer care centre in southern Brazil.

The number of cancer care visits in the emergency department for evaluation and treatment has been steadily increasing. Cancer patients represent a challenge for the emergency team because they may have acute symptoms of still undiagnosed malignancy, vague symptoms related to the disease or complications of cancer treatment, all of which can be either mild or potentially life-threatening. The Santo Antonio Hospital is a public institution located in the city of Blumenau (SC, southern Brazil), which serves as a reference centre for cancer care patients for a population of over a million and a half.

Case for diagnosis.

We report a clinical case of a rare variant of pemphigus - pemphigus herpetiformis - which combines the clinical features of dermatitis herpetiformis with the immunological findings of pemphigus. Due to its atypical presentation, it is frequently misdiagnosed as dermatitis herpetiformis. It is basically characterized by the herpetiform pattern of skin lesions, severe pruritus and by the presence of eosinophilic spongiosis confirmed on histopathology.

Early respiratory therapy reduces postoperative atelectasis in children undergoing lung resection.

Background: Early physiotherapy reduces pulmonary complications after lung resection in adult patients. However, the effectiveness and the techniques used in postoperative physiotherapy in children undergoing lung resection have not been well described. Therefore, the standardization of a physiotherapeutic attendance after lung resection in children is necessary.

Management of Stage IV Macular Holes: When Standard Surgery Fails.

Purpose: To report the surgical outcomes of reoperation of unclosed macular holes after initial vitrectomy with internal limiting membrane peeling.

Procedures: Seven eyes of 7 patients were submitted to a second procedure in which five radial retinal incisions were made, as deep as the retinal pigment epithelium, beginning one hole diameter away from its borders and extending centripetally until the hole's margins, avoiding the papilomacular bundle. Gas tamponade was performed and face-down positioning was recommended.

Peritoneal phosphate removal varies by peritoneal dialysis regimen: an underestimated parameter of phosphate control.

Background: The optimization of phosphate (P) removal by peritoneal dialysis (PD) is often underestimated. Our objective was to investigate peritoneal P clearance and its relationship with standard adequacy targets, hyperphosphatemia and automated PD (APD) parameters.

Methods: Dialysis dose, P clearances (24-hour urine and effluent samples), estimated percentage of diffusive P removal and peritoneal transport rate (PET) were evaluated in 77 adult prevalent PD patients.

Sigmoid adenocarcinoma with renal metastasis.

We report a case of a 75-year-old man submitted to a rectosigmoidectomy and partial cystectomy because of a sigmoid cancer and colovesical fistula. Seven months later and after four cycles of adjuvant chemotherapy, a lesion was detected in the kidney. Histology revealed tubular adenocarcinoma, which meant sigmoid cancer metastasis.

The effect of neuraxial versus general anesthesia techniques on postoperative quality of recovery and analgesia after abdominal hysterectomy: a prospective, randomized, controlled trial.

Background: Patients undergoing abdominal hysterectomy often have significant postoperative pain despite the use of concurrent multimodal pain strategies. Neuraxial anesthesia has opioid-sparing effects and may provide better postoperative recovery to patients when compared with general anesthesia. Our main objective in this study was to compare the effects of neuraxial and general anesthesia on postoperative quality of recovery after abdominal hysterectomy.

Spontaneous pneumothorax: a 5-year experience.

Background: Spontaneous pneumothorax (SP) is defined by the presence of air in the pleural space without history of trauma. It is classified as secondary if coexisting with underlying pulmonary disease. Its an entity with considerable incidence and treatment particularities which give reason for a reflection on the subject.

Compliance to continuous positive airway pressure therapy in a group of Portuguese patients with obstructive sleep apnea syndrome.

Introduction: Obstructive sleep apnea-hypopnea syndrome (OSAHS) is an emerging public health concern. Although different treatments for OSAHS had been proposed, continuous positive airway pressure (CPAP) is the first-line treatment in moderate to serious OSAHS in which success can be achieved by increasing compliance to CPAP.

Materials And Methods: This study analyzes long-term CPAP compliance in patients with OSAHS on CPAP therapy for at least 1 month, who began CPAP therapy between January 2004 and December 2006, followed up at a Portuguese Sleep Outpatient Clinic in Santo António Hospital.

Refractory disease in systemic lupus erythematosus.

There is no definition or guidelines for refractory disease (RD) in Systemic Lupus Erythematosus (SLE). However, new therapies have been tested mainly in refractory patients. The concept, like the disease, is complex and implies deeper knowledge on the disease pathogenesis and patients' subsets.

Posttransplant outcomes of peritoneal dialysis versus hemodialysis patients.

The impact of dialysis modality on posttransplant outcomes remains controversial. The authors have compared primary failure, delayed graft function (DGF), acute rejection episodes as well as patient and allograft survivals among patients undergoing renal transplantation between 2004 and 2009, according to the modality of hemodialysis (HD) versus peritoneal dialysis (PD). We studied 306 patients (268 HD and 38 PD) with a mean follow-up of 29 ± 16 months.

Erythropoietin production by distal nephron in normal and familial amyloidotic adult human kidneys.

Background/aim: the kidney is the major site of erythropoietin production. Many efforts have been made to identify renal erythropoietin-producing cells. Previous studies showed conflicting results, but the predominant localization reported was the peritubular interstitial and tubular epithelial cells.

Primary Sjögren's syndrome activity and damage indices comparison.

Background: Significant differences exist in outcome measures developed to assess patients with primary Sjögren's Syndrome (pSS). In this review, we have compared proposed indices.

Methods: Three activity - SSDAI (SS Disease Activity Index), SCAI (Sjögren's Systemic Clinical Activity Index) and ESSDAI (EULAR SS Disease Activity Index) - and two damage indices - SSDDI (SS Disease Damage Index) and SSDI (SS Damage Index) have been analysed.