Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.

Background: Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients.

Results: We characterize six PN patients expanding the clinical phenotype of the syndrome and the mutational repertoire of the gene.

A clinical case of dourine in an outbreak in Italy.

In May 2011, dourine was reported in Italy following the declaration of a positive result observed in a stallion undergoing routine testing for stud purposes. Clinical signs, anatomo-histopathological findings and laboratory results that resulted in the confirmation of diagnosis of dourine in a clinically affected mare, which was the likely source of infection in the stallion, are described.

Genetic prothrombotic factors in children with otogenic lateral sinus thrombosis: five case reports.

Lateral sinus thrombosis (LST) is an uncommon, but life-threatening complication of both acute and chronic otitis media. There is some evidence that acquired or hereditary prothrombotic disorders are risk factors for LST. The aim of this work was to evaluate the role of thrombotic screening, anticoagulant therapy or prophylaxis in patients with either acute or chronic otitis media and LST.

[Outcome of laparotomy for severe secondary peritonitis].

Background: Temporary abdominal closure with planned re-operations is a treatment method for several critical abdominal conditions. Aim of the study was to evaluate the effectiveness of laparostomy and the risk factors for survival in patients presenting with severe secondary peritonitis (SSP).

Methods: 52 patients (mean age 66.

Clinical outcome and monitoring of minimal residual disease in patients with acute lymphoblastic leukemia expressing the MLL/ENL fusion gene.

We analyzed 12 MLL/ENL positive ALL patients consecutively diagnosed between 1999 and 2009. The MLL/ENL fusion was identified in 4/150 (2.6%), 8/993 (0.

Development and validation of an antigen capture ELISA based on monoclonal antibodies specific for Listeria monocytogenes in food.

A capture enzyme-linked immunosorbent assay (ELISA) for the identification of Listeria monocytogenes in food was standardised and validated. The assay was refined by analysing samples of meat, seafood, dairy products, pasta and flour. The method was found to be 100% specific for Listeria spp.

Effect of preoperative breast magnetic resonance imaging on surgical decision making and cancer recurrence rates.

Purpose: To evaluate breast magnetic resonance imaging (MRI) for cancer staging and surgical planning in patients with known breast cancer, and to evaluate recurrence rates at long-term follow-up.

Methods And Materials: Institutional review board approval and patient consent were obtained. Preoperative MRI with 0.

Activation of the mTOR pathway by low levels of xenoestrogens in breast epithelial cells from high-risk women.

Breast cancer is an estrogen-driven disease. Consequently, hormone replacement therapy correlates with disease incidence. However, increasing male breast cancer rates over the past three decades implicate additional sources of estrogenic exposure including wide spread estrogen-mimicking chemicals or xenoestrogens (XEs), such as bisphenol-A (BPA).

Breast prosthesis: Management of patients after plastic surgery.

Breast augmentation and breast reconstruction are increasingly common operations. All radiologists need to be able to recognize the normal appearances of the more commonly used implants on various imaging modalities and breast radiologists in particular are facing new challenges when imaging the women involved. This work aims to review the normal and abnormal findings in women undergoing breast implant surgery using ultrasonography, mammography, and magnetic resonance imaging.

HBsAg blood screening and diagnosis: performance evaluation of the ARCHITECT HBsAg qualitative and ARCHITECT HBsAg qualitative confirmatory assays.

A low initial reactive rate for screening assays is important for time- and cost-effective infectious disease testing. Therefore, the new ARCHITECT HBsAg Qualitative screening assay, in conjunction with the new ARCHITECT HBsAg Qualitative Confirmatory assay, was introduced. As the role of hepatitis B surface antigen (HBsAg) as surrogate marker for HBV resolution and the monitoring of drug effectiveness are becoming increasingly important, the established ARCHITECT HBsAg Quantitative assay remains available on the market.

Distinctive responsiveness to stromal signaling accompanies histologic grade programming of cancer cells.

Whether stromal components facilitate growth, invasion, and dissemination of cancer cells or suppress neoplastic lesions from further malignant progression is a continuing conundrum in tumor biology. Conceptualizing a dynamic picture of tumorigenesis is complicated by inter-individual heterogeneity. In the post genomic era, unraveling such complexity remains a challenge for the cancer biologist.

Psychological risk factors for graft rejection among liver transplant recipients.

The purpose of this prospective study was to find psychological risk factors predicting acute, chronic, and psychological rejection in patients undergoing liver transplantation using Cognitive Behavioural Assessment (CBA-2.0). The primary scale included an assessment of fears, personality, obsessive-compulsive symptoms, state and trait anxiety, psychological reactions, and depression.

Effects of switching from twice-daily to once-daily tacrolimus formulation on quality of life, anxiety, and transplant benefit perception after kidney transplantation.

Objective: This study investigated whether switching from the twice-daily (Prograf; TAC) to the once-daily formulation of tacrolimus with extended release (Advagraf; XL) affected quality of life, anxiety, and transplant benefit perception after allogeneic kidney transplantation.

Methods: After local Institutional Review Board approval, 78 adult patients prescribed twice-daily tacrolimus for ≥1 year after kidney transplantation were asked to participate in this study. All patients were evaluated at T0 (before the switch), and the 49 who accepted the change were reassessed after 6 months (T1).

Preoperative psychological factors predicting graft rejection in patients undergoing kidney transplant: a pilot study.

Background: The aim of this study was to investigate whether pretransplant psychological variables included in the CBA 2.0 Primary Scale-fear, personality, obsessive-compulsive symptoms, state and trait anxiety, psychological reactions, and depression-could predict graft rejection among patients undergoing kidney transplantation.

Methods: After ethical committee approval we enrolled 33 consecutive adult patients undergoing kidney transplantation.

Adrenergic effects on force-frequency relationship: a pivotal role for the cardiac intrinsic systems.

Aim: The force-frequency relationship (F-FR) is an important intrinsic regulatory mechanism of cardiac contractility. The involvement of autonomic nervous system in this physiological aspect of cardiac control remains unclear. The aim of the study was to evaluate the role of extrinsic and intrinsic cardiac adrenergic innervations on the heart rate (HR)-related positive inotropic response.

Incidental enhancing lesions found on preoperative breast MRI: management and role of second-look ultrasound.

Purpose: This study prospectively assessed second-look ultrasound (US) for the evaluation of incidental enhancing lesions identified on preoperative breast magnetic resonance imaging (MRI).

Materials And Methods: Between 2004 and 2007, 182 patients with malignant breast lesions detected on US and/or X-ray mammography and confirmed by cytology/histology underwent preoperative breast contrast-enhanced (CE)-MRI. Patients with incidental lesions on breast MRI underwent second-look high-resolution US directed at the site of the incidental finding.

[The mental health service at the pediatric clinic of the University "La Sapienza" in Rome: 1948-2009].

The article outlines the history of the Mental Health Center operating within the Pediatric Clinic and School of Pediatrics of the University "La Sapienza" in Rome, Italy from 1948 to 2009. The main aim of the Center was to contribute to the understanding of the developmental process in children, to study its promoting factors and, at the same time, to consider the psychological and human implications of health issues. The original idea of the Center was the need to integrate psychological implication in pediatric care.

Extrahepatic portal vein thrombosis in children and adolescents: Influence of genetic thrombophilic disorders.

Aim: to explore the prevalence of local and genetic thrombophilic disorders as risk factors for portal vein thrombosis (PVT) in our series, the largest ever published in pediatric literature.

Methods: we conducted a case-control study enrolling 31 children with PVT and 26 age-matched controls. All were screened for thrombophilia, including genetic disorders, protein C, protein S and homocysteine deficiencies.

Role of breast MR imaging for predicting malignancy of histologically borderline lesions diagnosed at core needle biopsy: prospective evaluation.

Purpose: To prospectively determine the diagnostic performance of breast magnetic resonance (MR) imaging in predicting the malignancy of breast lesions classified as borderline at core needle biopsy (CNB).

Materials And Methods: This prospective study was approved by the local ethics committee, and all patients provided written informed consent. Between February 2007 and October 2009, 193 patients underwent ultrasonography (US)-guided CNB.

A second signal for autophagic cell death?

Dictyostelium cells in monolayers in vitro lend themselves well to a study of autophagic cell death (ACD). There is no apoptosis machinery in the protist Dictyostelium, no caspase nor Bcl-2 family members (except a paracaspase whose inactivation does not alter cell death), thus there is no apoptosis that could interfere with, or substitute for, nonapoptotic cell death. Also, Dictyostelium, a eukaryote, has a haploid genome, which facilitates random insertional mutagenesis.

Monospecific high-affinity and complement activating anti-GM1 antibodies are determinants in experimental axonal neuropathy.

It has been difficult to replicate consistently the experimental model of axonal Guillain-Barré syndrome (GBS). We immunized rabbits with two lipo-oligosaccharides (LOS1 and LOS2) derived from the same C. jejuni strain and purified in a slightly different way.

Autophagic cell death in Dictyostelium requires the receptor histidine kinase DhkM.

Dictyostelium constitutes a genetically tractable model for the analysis of autophagic cell death (ACD). During ACD, Dictyostelium cells first transform into paddle cells and then become round, synthesize cellulose, vacuolize, and die. Through random insertional mutagenesis, we identified the receptor histidine kinase DhkM as being essential for ACD.

The position of the amino group on the benzene ring is critical for mesalamine's improvement of replication fidelity.

Background: Individuals with ulcerative colitis are at high risk of developing colitis-associated cancer. 5-Aminosalicylate (5-ASA) protects from cancer by its antiinflammatory activity as well as by altering cell growth, inducing apoptosis, and reducing replication errors. So far neither 5-ASA's structural specificity nor its pharmacophore group have been identified.

The maxillary protraction treatment: description of a laser Er:Yag-assisted surgical technique. Case report.

The surgically aided rapid maxillary expansion (SARME) is indicated to treat the hypoplasia of the upper jaw, with a reduction of the palatal transverse diameters, even in absence of mono- or bilateral crossbite, in the adult patient. In such cases, maxillary osteotomies are made in order to reduce the sutural resistance and facilitate the expansion of the maxillary complex. A case of surgically-aided expansion of the maxilla by the use of laser Er:Yag is reported.