Management of incidental pancreatic neuroendocrine tumor: a case report with literature review.

Background: Pancreatic neuroendocrine tumors (PNETs) are rare and accounting for less than 5% of all pancreatic neoplasms. Their management depends on dimension of the lesion, main pancreatic duct (MPD) caliber, tumor malignancy features and evolutive potential.

Case Report: Incidental finding of a lesion 1.

Impact of Intermittent Intraoperative Neuromonitoring (IONM) on the Learning Curve for Total Thyroidectomy by Residents in General Surgery.

Introduction: Recurrent laryngeal nerve (RNL) identification constitutes the standard in thyroidectomy. Intraoperative nerve monitoring (IONM) has been introduced as a complementary tool for RLN functionality evaluation. The aim of this study is to establish how routine use of IONM can affect the learning curve (LC) in thyroidectomy.

Incidental papillary thyroid microcarcinoma in consecutive patients undergoing thyroid surgery for benign disease. A single center experience.

Background: There has recently been an increase in the incidental histological diagnosis of papillary thyroid microcarcinoma (I-PTMC), that varies from 3.5% in autopsies studies, to 5.2% in thyroid specimens from thyroid surgery, up to 9.

A rare case of primary gastric Burkitt's lymphoma associated with malignant pleural mesothelioma.

Background: Primary gastric Burkitt lymphoma (PG BL) and malignant pleural mesothelioma (MPM) are rare and aggressive tumors with poor prognosis. HIV and EBV infection have a link in the aetiology of PG BL, while MPM is usually associated with asbestos exposure. Endoluminal bleeding from massive solid tumor, and dyspnea usually due to pleural effusion, are the typical clinical manifestations respectively of PG BL and MPM.

Autologous Homologous Skin Constructs Allow Safe Closure of Wounds: A Retrospective, Noncontrolled, Multicentered Case Series.

An autologous homologous skin construct (AHSC) has been developed for the repair and replacement of skin. It is created from a small, full-thickness harvest of healthy skin, which contains endogenous regenerative populations involved in native skin repair. A multicenter retrospective review of 15 wounds in 15 patients treated with AHSC was performed to evaluate the hypothesis that a single application could result in wound closure in a variety of wound types and that the resulting tissue would resemble native skin.

Absolute and relative risk prediction in patients candidate to isolated aortic valve replacement: should we change our mind?

Objective: The European System for Cardiac Operative Risk Evaluation (EuroSCORE) calculator performance in 30-day outcome prediction after isolated aortic valve replacement (AVR) was evaluated to assess its absolute reliability and usefulness as selection criteria to percutaneous aortic valve implantation (PAVI).

Methods: We carried out a retrospective statistical analysis on 379 patients (group 0) consecutively submitted to isolated AVR in the past 10 years of surgical activity. We discriminated two periods of 5 years each, so we considered two subgroups of patients: group 1 (200 patients operated during 1999-2003); group 2 (179 patients operated during 2004-2008).

Prenatal determination of the fetal RhD blood group by multiplex PCR: a 7-year Portuguese experience.

Objectives: This is a retrospective study to evaluate the efficacy and accuracy of the multiplex polymerase chain reaction (PCR) amplification, for early detection of fetuses at risk for hemolytic disease, in the population living in Portugal, and to characterize the RhD-negative individuals at serologic and molecular level.

Methods: 2030 uncultured amniotic fluid samples and 2012 blood samples from the respective RhD-negative pregnant women were studied by multiplex PCR of intron 3/intron 4, exon 7 and 3'UTR. Amniocentesis was performed for a variety of medical indications.

Onset of X-linked sideroblastic anemia in the fourth decade.

We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C). On presentation she had macrocytic anemia with severe iron overload.

A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells.

The C-terminal region of erythroid cytoskeletal protein 4.1R, encoded by exons 20 and 21, contains a binding site for nuclear mitotic apparatus protein (NuMA), a protein needed for the formation and stabilization of the mitotic spindle. We have previously described a splicing mutation of 4.

A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency.

Mutations in the PKLR gene responsible for pyruvate kinase (PK)-deficient anaemia are mainly located in the coding regions: 11 are in the splicing sites and, recently, three mutations have been described in the promoter region. We now report a novel point mutation A-->G on nucleotide 72, upstream from the initiation codon of the PKLR gene, in four Portuguese PK-deficient patients. This new regulatory mutation occurs within the most proximal of the four GATA motifs (GATA-A element) in the R-type promoter region.

Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.

Absence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered.

Elliptocytosis in patients with C-terminal domain mutations of protein 4.1 correlates with encoded messenger RNA levels rather than with alterations in primary protein structure.

Early biochemical studies defined 4 functional domains of the erythroid protein 4.1 (4.1R).

[Type-II dyserythropoietic anemia. A partial form of the glycoprotein degradation syndrome?].

The authors present a case of a boy, aged 8 years and 11 months, yellow race, with dyserythropoietic anemia type II, diagnosed at two months of age. Screening for partial form of carbohydrate deficient glycoprotein syndrome was normal. This result did not confirm the publication by Fukuda in 1990.