Primary Antiphospholipid Syndrome: Pregnancy Outcome in a Portuguese Population

Introduction:Women with antiphospholipid syndrome(APS) may suffer from recurrent miscarriage, fetal death, fetal growth restriction (FGR), pre-eclampsia, placental abruption, premature delivery and thrombosis. Treatment with aspirin and low molecular weight heparin (LMWH) combined with close maternal-fetal surveillance can change these outcomes. Objective: To assess maternal and perinatal outcome in a cohort of Portuguese women with primary APS. Patients and Methods: A retrospective analysis of 51 women with primary APS followed in our institution (January 1994 to December 2007). Forty one(80.4%) had past pregnancy morbidity and 35.3%(n=18) suffered previous thrombotic events. In their past they had a total of 116 pregnancies of which only 13.79 % resulted in live births. Forty four patients had positive anticardiolipin antibodies and 33 lupus anticoagulant. All women received treatment with low dose aspirin and LMWH. Results: There were a total of 67 gestations (66 single and one multiple). The live birth rate was 85.1%(57/67) with 10 pregnancy failures: seven in the first and second trimesters, one late fetal death and two medical terminations of pregnancy (one APS related). Mean (± SD) birth weight was 2837 ± 812 g and mean gestational age 37 ± 3.3 weeks. There were nine cases of FGR and 13 hypertensive complications(4 HELLP syndromes). 54.4% of the patients delivered by caesarean section. Conclusions: In our cohort, early treatment with aspirin and LMWH combined with close maternal-fetal surveillance was associated with a very high chance of a live newborn.

Cat-Scratch Disease With Bone Involvemnet

Background: Bartonella henselae infection typically presents as a self-limiting regional lymphadenopathy. Bone involvement is a very rare form of the disease. Aims: To describe bone infection associated to cat-scratch disease (CSD) in a portuguese pediatric hospital. Methods: Clinical records of children admitted at the hospital with the diagnosis of CSD associated bone infection, during 2010, were reviewed. Diagnosis was confirmed by serology using indirect fluorescence assay and nucleic acid amplification from lymph node biopsy. Results: Two boys, 2 and 7 years old, were identified. One had prolonged fever and neck pain. MRI suggested D6-D9 osteomyelitis. Cultures were negative and Mycobacterium tuberculosis and Brucella infection were excluded. He was treated with gentamicin and cotrimoxazol, with clinical, but no significant image, improvement. The second child presented subacute sternoclavicular swelling and mildly enlarged axillary lymph nodes. Image studies revealed an osteolytic lesion of the clavicle and hypoechogenic splenic lesions. Histopathology of lymph node showed granulomatous adenitis and excluded malignancy. Therapy with azythromicin and rifampicin was successful. Both had contact with cats. Primary and secondary immunodeficiency was excluded. Conclusion: The optimal therapy for atypical Bartonella henselae infection is unknown and the role of antibiotics uncertain. Several combinations of antibiotics have been proposed for bone disease treatment, but recommendations are lacking. The different outcome in the presented cases could be related with the distinct therapeutic regimens used. Although atypical infection has classically been associated with immunodeficiency, this has not been the rule in bone disease and the need for extensive evaluation must be reviewed.

Propriedades Psicométricas da Versão Portuguesa do Kansas City Cardiomyopathy Questionnaire na Miocardiopatia Dilatada com Insuficiência Cardíaca Congestiva

Several studies have shown that patients with congestive heart failure (CHF) have a compromised health-related quality of life (HRQL), and this, in recent years, has become a primary endpoint when considering the impact of treatment of chronic conditions such as CHF. OBJECTIVES: To evaluate the psychometric properties of the Portuguese version of a new specific instrument to measure HRQL in patients hospitalized for CHF: the Kansas City Cardiomyopathy Questionnaire (KCCQ). METHODS: The KCCQ was applied to a sample of 193 consecutive patients hospitalized for CHF. Of these, 105 repeated the assessment 3 months after admission, with no events during this period. Mean age was 64.4 +/- 12.4 years (21-88), and 72.5% were 72.5% male. CHF was of ischemic etiology in 4% of cases. RESULTS: This version of the KCCQ was subjected to statistical validation, with assessment of reliability and validity, similar to the American version. Reliability was assessed by the internal consistency of the domains and summary scores, which showed similar values of Cronbach alpha (0.50-0.94). Validity was assessed by convergence, sensitivity to differences between groups and sensitivity to changes in clinical condition. We evaluated the convergent validity of all domains related to functionality, through the relationship between them and a measure of functionality, the New York Heart Association (NYHA) classification. Significant correlations were found (p < 0.01) for this measure of functionality i patients with CHF. Analysis of variance between the physical limitation domain, the summary scores and NYHA class was performed and statistically significant differences were found (F = 23.4; F = 36.4; F = 37.4, p = 0.0001) in the ability to discriminate severity of clinical condition. A second evaluation was performed on 105 patients at the 3-month follow-up outpatient appointment, and significant changes were observed in the mean scores of the domains assessed between hospital admission and the clinic appointment (differences from 14.9 to 30.6 on a scale of 0-100), indicating that the domains assessed are sensitive to changes in clinical condition. The correlation between dimensions of quality of life in the KCCQ is moderate, suggesting that the dimensions are independent, supporting the multifactorial nature of HRQL and the suitability of this measure for its evaluation. CONCLUSION: The KCCQ is a valid instrument, sensitive to change and a specific measure of HRQL in a population with dilated cardiomyopathy and CHF.

Primary Angiosarcoma of the Pericardium. Case Report and Review of the Literature

Primary cardiac tumours are rare entities and angiosarcoma is the most frequent primary cardiac malignant tumour. Mean survival is six months and the tumour responds poorly to chemotherapy. We present the case of a 50 year-old patient with localised pericardial angiosarcoma who survived 23 months after diagnosis with a combined approach of chemotherapy and surgery.

Mitral Valve Myxomas: an Unusual Entity

Primary tumours of the heart are uncommon entities, cardiac myxomas being the most frequent. However, mitral valve myxomas are exceptionally rare. In the last 12 years, there have been 25 myxomas diagnosed at our institution, with only two of them originating from the mitral valve. Both patients were female, the first, 25, and the second, 72 years old. The younger patient was very symptomatic with a large mass, 4 cm long, which involved both leaflets causing significant obstruction to the left ventricular inflow. The second one had a smaller mass located at the atrial side of the posterior leaflet that only produced some flow divergence. Neither of them had constitutional nor embolic symptoms. Both patients were submitted to emergent surgical resection that in the first case involved the mitral valve and replacement with mechanical prosthesis. The macroscopic appearance of these tumours suggested a malignant aetiology which may represent somewhat different features of the myxomas when originating from the cardiac valves. Both patients are well reflecting the good prognosis of this illness after resection, although the younger patient was re-operated because of prosthetic valve obstruction and suspicion of recurrence that was not confirmed. Because of the illustrative images and different presentations, we found it interesting to report and discuss them together.

Primary Disorders of Neurotransmitter Metabolism: Experience of a Tertiary Center

Neurotransmitter diseases are a group of inherited disorders attributable to a disturbance of neurotransmitter metabolism. Biogenic amines are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular, respiratory and gastrointestinal control, sleep mechanisms, body temperature and pain. Given the multiple functions of monoamines, disorders of their metabolism comprise a wide spectrum of manifestations, with motor dysfunction being the most prominent clinical feature. Methods: Case review of 12 patients from 4 families, with primary disorders of biogenic amine metabolism. Results: Aromatic L-amino acid decarboxylase deficiency (4 patients from 2 families), and GTP-cyclohydrolase (8 patients from 2 families) were the two diseases identified. Age at first symptoms varied between 2 months and 6 years. Developmental delay was present in all cases except 2 patients with GTP cyclohydrolase deficiency. The combination of axial hypotonia and limb dystonia was also frequent. Children with aromatic L-amino acid decarboxylase deficiency exhibited temperature instability, oculogyric crisis and disturbances of sleep. The index case of one family with GTP cyclohydrolase deficiency presented with Parkinsonism (bradykinesia, rigidity and hypomimia). Analysis of neurotransmitters and their metabolites in CSF was crucial for the identification of index cases. Response to therapy was variable but in general unsatisfactory except in a family with GTP cyclohydrolase deficiency. Conclusions: These disorders should be considered in the differential diagnosis of paediatric neurodegenerative diseases, in order to allow an adequate therapeutic trial that can favor prognosis.

Primary Malignant Peritoneal Mesothelioma Associated with Renal Cell Carcinoma. A Concise Review Based on a Clinical Case Baseada num Caso Clínico

O Mesotelioma peritoneal maligno é um tumor maligno relacionado frequentemente com exposição prolongada a fibras de amianto, de mau prognóstico, de diagnóstico geralmente tardio, face à pouca expressão clínica na fase inicial da doença. Como o mesotelioma evolui geralmente só na cavidade peritoneal, doentes seleccionados poderão ter maior sobrevivência se for possível a peritonectomia extensa e quimioterapia hipertérmica intraperitoneal intraoperatória. Os autores referem a sincronicidade ainda não descrita, de mesotelioma peritoneal maligno primário e carcinoma de Grawitz. São revistos concisamente: a clínica destes tumores, síndromes paraneoplásicos (disfunção bioquímica hepática, emagrecimento extremo); etiopatogenia da acção cancerígena das fibras de amianto; mecanismos de disseminação intraperitoneal; avaliação tomodensitométrica; importância da imunohistoquímica no diagnóstico histopatológico; estadiamento; importância do tratamento multidisciplinar destes tumores.

Segmentectomia Pulmonar Anatómica por Videotoracoscopia: Experiência Inicial de um Centro

The use of minimally invasive surgery for the treatment of lung cancer has been growing worldwide. Between May 2008 and November 2012, we performed 24 videothoracoscopic anatomical lung resections in our department. This includes 22 lobectomies and 2 anatomic segmentectomies, which is known to be a more complex surgery, since it demands a finer dissection of sub-lobar structures. We report the clinical cases of two patients who underwent anatomic segmentectomies. The first one was a 63 year old woman, smoker and with a history of breast cancer 20 years earlier. An incidental 9 mm node was found in the lingula. The patient underwent an anatomic lingulectomy and the frozen section was suggestive of a primary lung cancer. Therefore, we proceeded to a full lymphadenectomy. The final pathology evaluation showed a typical carcinoid tumour (pT1aN0). The second patient was a 50 year old woman, a smoker and with a heavy family history of lung cancer. In a screening CT scan a 8 mm ground glass opacity was identified in the left lower lobe (segment VI). After a VATS wedge resection of the node the frozen section evaluation was compatible with adenocarcinoma. We then proceeded to an anatomic segmentectomy with lymphadenectomy. The definitive pathology evaluation confirmed that it was a pT1a N0 bronchioloalveolar adenocarcinoma. The patients now have 5 and 2 months of follow up respectivelly and neither of them has signs of recurrence and the surgical incision showed a good aesthetic result. Anatomic segmentectomy is the indicated surgery especially in patients with low grade tumours, in early stage lung cancers or in patients without pulmonary function for a lobar resection, and it can be done safely using VATS.

Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis

We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with hydrocephalus and the syndrome of primary ciliary dyskinesia. primary ciliary dyskinesia–associated aqueductal stenosis should be considered as a possible cause for fetal or neonatal hydrocephalus if heterotaxy, heart malformations, and/or a probable genetic etiology are present.

Coreceptor Usage by HIV-1 and HIV-2 Primary Isolates: The Relevance of CCR8 Chemokine Receptor as an Alternative Coreceptor

The human immunodeficiency virus replication cycle begins by sequential interactions between viral envelope glycoproteins with CD4 molecule and a member of the seven-transmembrane, G-protein-coupled, receptors' family (coreceptor). In this report we focused on the contribution of CCR8 as alternative coreceptor for HIV-1 and HIV-2 isolates. We found that this coreceptor was efficiently used not only by HIV-2 but particularly by HIV-1 isolates. We demonstrate that CXCR4 usage, either alone or together with CCR5 and/or CCR8, was more frequently observed in HIV-1 than in HIV-2 isolates. Directly related to this is the finding that the non-usage of CXCR4 is significantly more common in HIV-2 isolates; both features could be associated with the slower disease progression generally observed in HIV-2 infected patients. The ability of some viral isolates to use alternative coreceptors besides CCR5 and CXCR4 could further impact on the efficacy of entry inhibitor therapy and possibly also in HIV pathogenesis.

Is It Possible to Simplify Risk Stratification Scores for Patients with ST-Segment Elevation Myocardial Infarction Undergoing Primary Angioplasty?

INTRODUCTION: There are several risk scores for stratification of patients with ST-segment elevation myocardial infarction (STEMI), the most widely used of which are the TIMI and GRACE scores. However, these are complex and require several variables. The aim of this study was to obtain a reduced model with fewer variables and similar predictive and discriminative ability. METHODS: We studied 607 patients (age 62 years, SD=13; 76% male) who were admitted with STEMI and underwent successful primary angioplasty. Our endpoints were all-cause in-hospital and 30-day mortality. Considering all variables from the TIMI and GRACE risk scores, multivariate logistic regression models were fitted to the data to identify the variables that best predicted death. RESULTS: Compared to the TIMI score, the GRACE score had better predictive and discriminative performance for in-hospital mortality, with similar results for 30-day mortality. After data modeling, the variables with highest predictive ability were age, serum creatinine, heart failure and the occurrence of cardiac arrest. The new predictive model was compared with the GRACE risk score, after internal validation using 10-fold cross validation. A similar discriminative performance was obtained and some improvement was achieved in estimates of probabilities of death (increased for patients who died and decreased for those who did not). CONCLUSION: It is possible to simplify risk stratification scores for STEMI and primary angioplasty using only four variables (age, serum creatinine, heart failure and cardiac arrest). This simplified model maintained a good predictive and discriminative performance for short-term mortality.

Locally Advanced and Metastatic Prostate Cancer Treated with Intermittent Androgen Monotherapy or Maximal Androgen Blockade: Results from a Randomised Phase 3 Study by the South European Uroncological Group

BACKGROUND: Few randomised studies have compared antiandrogen intermittent hormonal therapy (IHT) with continuous maximal androgen blockade (MAB) therapy for advanced prostate cancer (PCa). OBJECTIVE: To determine whether overall survival (OS) on IHT (cyproterone acetate; CPA) is noninferior to OS on continuous MAB. DESIGN, SETTING, AND PARTICIPANTS: This phase 3 randomised trial compared IHT and continuous MAB in patients with locally advanced or metastatic PCa. INTERVENTION: During induction, patients received CPA 200 mg/d for 2 wk and then monthly depot injections of a luteinising hormone-releasing hormone (LHRH; triptoreline 11.25 mg) analogue plus CPA 200 mg/d. Patients whose prostate-specific antigen (PSA) was <4 ng/ml after 3 mo of induction treatment were randomised to the IHT arm (stopped treatment and restarted on CPA 300 mg/d monotherapy if PSA rose to ≥20 ng/ml or they were symptomatic) or the continuous arm (CPA 200 mg/d plus monthly LHRH analogue). OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Primary outcome measurement was OS. Secondary outcomes included cause-specific survival, time to subjective or objective progression, and quality of life. Time off therapy in the intermittent arm was recorded. RESULTS AND LIMITATIONS: We recruited 1045 patients, of which 918 responded to induction therapy and were randomised (462 to IHT and 456 to continuous MAB). OS was similar between groups (p=0.25), and noninferiority of IHT was demonstrated (hazard ratio [HR]: 0.90; 95% confidence interval [CI], 0.76-1.07). There was a trend for an interaction between PSA and treatment (p=0.05), favouring IHT over continuous therapy in patients with PSA ≤1 ng/ml (HR: 0.79; 95% CI, 0.61-1.02). Men treated with IHT reported better sexual function. Among the 462 patients on IHT, 50% and 28% of patients were off therapy for ≥2.5 yr or >5 yr, respectively, after randomisation. The main limitation is that the length of time for the trial to mature means that other therapies are now available. A second limitation is that T3 patients may now profit from watchful waiting instead of androgen-deprivation therapy. CONCLUSIONS: Noninferiority of IHT in terms of survival and its association with better sexual activity than continuous therapy suggest that IHT should be considered for use in routine clinical practice.

Phacoemulsification Versus Peripheral Iridotomy in the Management of Chronic Primary Angle Closure: Long-Term Follow-Up

Primary angle closure occurs as a result of crowded anterior segment anatomy, causing appositional contact between the peripheral iris and trabecular meshwork, thereby obstructing aqueous outflow. Several studies highlight the role of the crystalline lens in its pathogenesis. The objective of this work is to compare the long-term efficacy of phacoemulsification versus laser peripheral iridotomy (LPI) in the management of chronic primary angle closure (CPAC). Prospective case-control study with 30 eyes of 30 patients randomly divided in two groups: 15 eyes in the LPI group and 15 eyes in the IOL group. Patients in the LPI group underwent LPI using argon and Nd:YAG laser. Patients in the IOL group underwent phacoemulsification with posterior chamber intraocular lens (IOL) implantation. Examinations before and after the procedure included gonioscopy, Goldmann applanation tonometry, and anterior chamber evaluation using the Pentacam rotating Scheimpflug camera. The mean follow-up time was 31.13 ± 4.97 months. There was a statistically significant reduction in the intraocular pressure (IOP) and number of anti-glaucoma medications (p < 0.01) only in the IOL group. Anterior chamber depth, angle, and volume were all higher in the IOL group (p < 0.01) at the end of the follow-up period. Phacoemulsification with posterior chamber IOL implantation results in a higher anterior chamber depth, angle, and volume, when compared to LPI. Consequently, phacoemulsification has greater efficacy in lowering IOP and preventing its long-term increase in patients with CPAC and cataract.

Atheroembolic Renal Disease As a Cause of Allograft Primary Non-Function

Atheroembolic renal disease, also referred to as cholesterol crystal embolization, is a rare cause of renal failure, secondary to occlusion of renal arteries, renal arterioles and glomerular capillaries with cholesterol crystals, originating from atheromatous plaques of the aorta and other major arteries. This disease can occur very rarely in kidney allografts in an early or a late clinical form. Renal biopsy seems to be a reliable diagnostic test and cholesterol clefts are the pathognomonic finding. However, the renal biopsy has some limitations as the typical lesion is focal and can be easily missed in a biopsy fragment. The clinical course of these patients varies from complete recovery of the renal function to permanent graft loss. Statins, acetylsalicyclic acid, and corticosteroids have been used to improve the prognosis. We report a case of primary allograft dysfunction caused by an early and massive atheroembolic renal disease. Distinctive histology is presented in several consecutive biopsies. We evaluated all the cases of our Unit and briefly reviewed the literature. Atheroembolic renal disease is a rare cause of allograft primary non -function but may become more prevalent as acceptance of aged donors and recipients for transplantation has become more frequent.

Adenocarcinoma of the Ileum: A Rare and Challenging Entity

INTRODUCTION: Primary small bowel malignancy is unusual and accounts for 1-3% of all gastrointestinal tract neoplasms. Adenocarcinoma is one of the most common histologic types, but its frequency decreases with more distal locations. Its clinical presentation is nonspecific and is usually associated with advanced disease, which contributes to delayed diagnosis. PRESENTATION OF CASE: A 66-year-old woman was admitted to the hospital with a 6-day history of progressively worsening abdominal pain localized in the right lower quadrant, nausea, and vomiting. Investigation revealed an inflammatory appendiceal tumor. The patient underwent surgery and an unexpected tumor involving the distal ileal segment and ileocecal appendix was found. Right radical hemicolectomy with en bloc resection of the distal ileum was performed. Histopathological examination revealed adenocarcinoma of the ileum. DISCUSSION: This rare entity is associated with a nonspecific clinical presentation that contributes to delayed diagnosis and treatment, and consequently to a worse prognosis. Approximately half of the cases are only diagnosed at surgery. Primary treatment consists of wide resection with locoregional lymphadenectomy. The role of adjuvant chemotherapy has yet to be determined. CONCLUSION: This case demonstrates an unusual condition characterized by late and challenging diagnosis. We highlight the importance of an earlier diagnosis and optimal treatment for improved patient outcomes.