Breast amyloidosis: a case report

Amyloidosis is an uncommon disorder characterized by extracellular deposition of abnormal proteins. Breast involvement has rarely been reported and can clinically be misdiagnosed as breast cancer. A 60-year-old woman presented with a 3-mm diameter mass in the right breast close to a silicon implant positioned 20 years before. A core biopsy, performed to rule out breast cancer, showed amyloid deposit. Further exams confirmed a systemic amyloid light chain amyloidosis. After few months the mass increased causing breast volume and shape distortion. Since breast cancer may be the cause of amyloid deposits or be hidden by it, the patient underwent a bilateral skin sparing mastectomy and expander and fat grafting breast reconstruction. The resection specimens showed amyloid deposits only, no evidence of cancer. At 2 years follow-up, no breast amyloidosis recurrence was shown. Breast amyloidosis is rare but can occur in a plastic surgeon\u2019s practice. It is mandatory to rule out a comitant breast cancer or systemic amyloidosis

Epidemiology and burden of Rotavirus-associated hospitalizations in Ferrara, Italy

Objective of this study was to provide data on hospitalizations for rotavirus gastroenteritis (RVGE) in Ferrara, Italy. The study was conducted analyzing the hospital discharge forms of all children admitted to the Pediatric Department of the University of Ferrara, Arcispedale Sant'Anna, from January 2001 through December 2005. The database was searched for all gastrointestinal diseases and in particular RVGE. During the period under study 3277 children, of which 2038 inf.60 months of age, were hospitalized; 247 children inf.5 years old were admitted for acute gastroenteritis and 89 (4.4% of all and 36% of gastroenteritis-related hospitalizations) had rapid screening tests positive for rotavirus. A seasonal pattern was observed for RVGE with an increase in winter and early spring. The average length of hospital stay was 5.7 days. The median cost of each hospitalized case of RVGE ranged between 1417 and 1595 Euros. The present research confirms that rotavirus gastroenteritis represents an important cause of hospitalization in children and is responsible for significant costs for the Public Health Care System. An effective vaccination program could significantly reduce the incidence of hospitalization and the associated costs

The osteoporotic male: Overlooked and undermanaged?

Age-related bone loss in men is a poorly understood phenomenon, although increasing data on the pathophysiology of bone in men is becoming available. Most of what we know on bone pathophysiology derives from studies on women. The well-known association between menopause and osteoporosis is far from been disproven. However, male osteoporosis is a relatively new phenomenon. Its novelty is in part compensated for by the number of studies on female osteoporosis and bone pathophysiology. On the other hand, the deeper understanding of female osteoporosis could lead to an underestimation of this condition in the male counterpart. The longer life-span exposes a number of men to the risk of mild-to-severe hypogonadism which in turn we know to be one of the pathogenetic steps toward the loss of bone mineral content in men and in women. Hypogonadism might therefore be one among many corrigible risk factors such as cigarette smoking and alcohol abuse against which clinicians should act in order to prevent osteoporosis and its complications. Treatments with calcium plus vitamin D and bisphophonates are widely used in men, when osteoporosis is documented and hypogonadism has been excluded. The poor knowledge on male osteoporosis accounts for the lack of well shared protocols for the clinical management of the disease. This review focuses on the clinical approach and treatment strategy for osteoporosis in men with particular attention to its relationship with male hypogonadism

Le pinete demaniali costiere di Ravenna e Ferrara: analisi dei tipi forestali e strutturali per la scelta del trattamento selvicolturale nel processo di pianificazione

The state-owned pine forests on the coast of Ravenna and Ferrara: analysis of forest and structure types for choice of silvicultural system in the planning process. Results of the analysis on typology and structure of state forests dominated by maritime pine (Pinus pinaster Ait.) are reported. These formations grow on a narrow coastal belt between Cervia (Ravenna) and Volano (Ferrara), in the Emilia-Romagna region (Italy). The aim of the study is to support the proper silvicultural system in order to satisfy multiple use of pine forests using the analysis of forest types and model types of structure. Main ecological and structural features of principal pine forest types and experimental criteria on silvicultural systems are explained

How miR-31-5p and miR-33a-5p Regulates SP1/CX43 Expression in Osteoarthritis Disease: Preliminary Insights

Osteoarthritis (OA) is a degenerative bone disease that involved micro and macro-environment of joints. To date, there are no radical curative treatments for OA and novel therapies are mandatory. Recent evidence suggests the role of miRNAs in OA progression. In our previous studies, we demonstrated the role of miR-31-5p and miR-33a families in different bone regeneration signaling. Here, we investigated the role of miR-31-5p and miR-33a-5p in OA progression. A different expression of miR-31-5p and miR-33a-5p into osteoblasts and chondrocytes isolated from joint tissues of OA patients classified in based on different Kellgren and Lawrence (KL) grading was highlighted; and through a bioinformatic approach the common miRNAs target Specificity proteins (Sp1) were identified. Sp1 regulates the expression of gap junction protein Connexin43 (Cx43), which in OA drives the modification of (i) osteoblasts and chondrocytes genes expression, (ii) joint inflammation cytokines releases and (iii) cell functions. Concerning this, thanks to gain and loss of function studies, the possible role of Sp1 as a modulator of CX43 expression through miR-31-5p and miR-33a-5p action was also evaluated. Finally, we hypothesize that both miRNAs cooperate to modulate the expression of SP1 in osteoblasts and chondrocytes and interfering, consequently, with CX43 expression, and they might be further investigated as new possible biomarkers for OA

Imputation reliability on DNA biallelic markers for drug metabolism studies

Imputation is a statistical process used to predict genotypes of loci not directly assayed in a sample of individuals. Our goal is to measure the performance of imputation in predicting the genotype of the best known gene polymorphisms involved in drug metabolism using a common SNP array genotyping platform generally exploited in genome wide association studies.METHODS:Thirty-nine (39) individuals were genotyped with both Affymetrix Genome Wide Human SNP 6.0 (AFFY) and Affymetrix DMET Plus (DMET) platforms. AFFY and DMET contain nearly 900000 and 1931 markers respectively. We used a 1000 Genomes Pilot + HapMap 3 reference panel. Imputation was performed using the computer program Impute, version 2. SNPs contained in DMET, but not imputed, were analysed studying markers around their chromosome regions. The efficacy of the imputation was measured evaluating the number of successfully imputed SNPs (SSNPs).RESULTS:The imputation predicted the genotypes of 654 SNPs not present in the AFFY array, but contained in the DMET array. Approximately 1000 SNPs were not annotated in the reference panel and therefore they could not be directly imputed. After testing three different imputed genotype calling threshold (IGCT), we observed that imputation performs at its best for IGCT value equal to 50%, with rate of SSNPs (MAF > 0.05) equal to 85%.CONCLUSIONS:Most of the genes involved in drug metabolism can be imputed with high efficacy using standard genome-wide genotyping platforms and imputing procedures

Hyperhomocysteinemia and Mortality after Coronary Artery Bypass Grafting

BACKGROUND: The independent prognostic impact, as well as the possible causal role, of hyperhomocysteinemia (HHcy) in coronary artery disease (CAD) is controversial. No previous study specifically has addressed the relationship between HHcy and mortality after coronary artery bypass grafting (CABG) surgery. The aim of this study is to evaluate the prognostic impact of HHcy after CABG surgery. METHODOLOGY AND PRINCIPAL FINDINGS: We prospectively followed 350 patients who underwent elective CABG between May 1996 and May 1999. At baseline, fasting total homocysteine (tHcy) levels were measured in all participants, and a post-methionine loading (PML) test was performed in 77.7% of them (n = 272). After a median follow-up of 58 months, 33 patients (9.4%) had died, 25 because of cardiovascular events. HHcy, defined by levels higher than the 90(th) percentile (25.2 µmol/L) of the population's distribution, was significantly associated to total and cardiovascular mortality (P = 0.018 [log-rank test 5.57]; P = 0.002 [log-rank test 9.76], respectively). The PML test had no prognostic value. After multiple adjustment for other univariate predictors by Cox regression, including statin therapy (the most powerful predictor in uni-/multivariate analyses), high-sensitivity C Reactive Protein (hs-CRP) levels, and all known major genetic (MTHFR 677C→T polymorphism) and non-genetic (B-group vitamin status and renal function) tHcy determinants, HHcy remained an independent prognostic factor for mortality (HRs: 5.02, 95% CIs 1.88 to 13.42, P = 0.001). CONCLUSIONS: HHcy is an important prognostic marker after CABG, independent of modern drug therapy and biomarkers

Inhalation therapy in the next decade : Determinants of adherence to treatment in asthma and COPD

Peer reviewedPublisher PD

Ethical issues of unrelated hematopoietic stem cell transplantation in adult thalassemia patients

<p>Abstract</p> <p>Background</p> <p>Beta thalassemia major is a severe inherited form of hemolytic anemia that results from ineffective erythropoiesis. Allogenic hematopoietic stem cell transplantation (HSCT) remains the only potentially curative therapy. Unfortunately, the subgroup of adult thalassemia patients with hepatomegaly, portal fibrosis and a history of irregular iron chelation have an elevated risk for transplantation-related mortality that is currently estimated to be about 29 percent.</p> <p>Discussion</p> <p>Thalassemia patients may be faced with a difficult choice: they can either continue conventional transfusion and iron chelation therapy or accept the high mortality risk of HSCT in the hope of obtaining complete recovery.</p> <p>Throughout the decision making process, every effort should be made to sustain and enhance autonomous choice. The concept of conscious consent becomes particularly important. The patient must be made fully aware of the favourable and adverse outcomes of HSCT. Although it is the physician's duty to illustrate the possibility of completely restoring health, considerable emphasis should be put on the adverse effects of the procedure. The physician also needs to decide whether the patient is eligible for HSCT according to the "rule of descending order". The patient must be given full details on self-care and fundamental lifestyle changes and be fully aware that he/she will be partly responsible for the outcome.</p> <p>Summary</p> <p>Only if all the aforesaid conditions are satisfied can it be considered reasonable to propose unrelated HSCT as a potential cure for high risk thalassemia patients.</p