TRAIL as biomarker and potential therapeutic tool for cardiovascular diseases.

This review focuses on TNF-related apoptosis-inducing ligand (TRAIL), also called Apo2 ligand, a protein belonging to the TNF superfamily. TRAIL can be found either in its transmembrane or circulating form, and its mostly studied peripheral effect is the induction of cellular apoptosis. Here, we discuss the evidences supporting the use of TRAIL as biomarker of cardiovascular diseases as well as the evidences showing the potential beneficial therapeutic effects of TRAIL on cardiovascular diseases and diabetes.

Case of fake acute abdomen by metastatic melanoma.

Malignant melanoma is the neoplasm with highest probability of cardiac metastatization. Cardiac involvement by metastatic melanoma is rarely identified ante-mortem (5-30% of cases) for non-specificity of cardiac symptoms. In fact we show in this case report that abdominal pain can represent the predominant symptom.

Monoclonal antibodies conjugated with superparamagnetic iron oxide particles allow magnetic resonance imaging detection of lymphocytes in the mouse brain.

We investigated the potential of antibody-vectorialized superparamagnetic iron oxide (SPIO) particles as cellular specific magnetic resonance contrast agents to image lymphocyte populations within the central nervous system (CNS), with the final goal of obtaining a reliable tool for noninvasively detecting and tracking specific cellular populations in vivo. We used superparamagnetic particles bound to a monoclonal antibody. The particle is the contrast agent, by means of its T₂* relaxation properties; the antibody is the targeting vector, responsible for homing the particle to target a surface antigen.

De novo deletion of 1q31.1-q32.1 in a patient with developmental delay and behavioral disorders.

We describe the case of a 6-year-old boy with a de novo deletion of the long arm of chromosome 1 encompassing band 1q31.1-q32.1, minor facial anomalies, mild developmental delay, and behavioral disorders.

Musculoskeletal symptoms and work ability among agricultural machinery operators.

Those subjects whose employment has physical demands present more frequently musculoskeletal symptoms than others. The agricultural sector activities include tasks with important physical demands that may have a negative impact in the workers health. The aim of this study was to evaluate the presence of musculoskeletal symptoms and its association with work ability in agricultural machinery operators.

Primitive neuroectodermal tumor of the liver: a case report.

Primary liver sarcomas represent a rare group of neoplasias, with angiosarcoma being the most common histological type. Primitive neuroectodermal tumor (PNET) represents a high malignant neoplasia that usually affects the central nervous system and soft tissues. An 18-year-old male patient was admitted with clinical complains of pain in the right upper abdominal quadrant.

Ovarian hydatid cyst: A case report.

Discovering an hydatid cyst in pelvic region, especially as primary localization, is a rare event; as a matter of fact according to data provided by literature the incidence is between 0.2 and 2.25%.

Work capacity evaluation among nursing aides.

Work force aging generates the need to develop studied with the purpose to evaluate work capacity. The objective of this study was to analyze the work capacity of the nursing aides of a public health institute. A cross-sectional study was developed on the work capacity of these professionals regarding their demographic, work and lifestyle characteristics (n=241).

Ghost Ileostomy with or without abdominal parietal split.

Background: In patients who undergo low anterior rectal resection, the fashioning of a covering stoma (CS) is still controversial. In fact, a covering stoma (ileostomy or colostomy) is worsened by major complications related to the procedure, longer recovery time, necessity of a re-intervention under general anesthesia for stoma closure and poorer quality of life. The advantage of Ghost Ileostomy (GI) is that an ileostomy can be performed only when there is clinical evidence of anastomotic leakage, without performing further interventions with related complications when anastomotic leak is absent and therefore the procedure is not necessary.

Surgical resolution of trigeminal neuralgia due to intra-axial compression by pontine cavernous angioma.

Background: Trigeminal neuralgia is usually caused by microvascular conflict with the fifth cranial nerve in the pontocerebellar angle. Rarely is it secondary to other extra-axial or intra-axial lesions. Few cases of trigeminal neuralgia due to cavernous angiomas have been reported in the literature.

Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients.

Williams-Beuren syndrome (WBS) is a multisystem disorder that requires ongoing management by a primary care physician familiar with the natural history and specific medical problems associated with the condition. While the natural history of the disease during infancy is well known, data about the adult WBS population have been published only in the last few years, and show a wide range of medical, neurological, and psychiatric problems. We investigated 45 young adult WBS patients (mean age 23 years, range 17-39 years) using a well-coordinated team which included a cardiologist, a nephrologist, an ophthalmologist, an endocrinologist, a gastroenterologist, orthodontist, and orthopedist.

Angiosarcoma arising in an ovarian fibroma: a case report.

Primary ovarian angiosarcoma is a very rare gynaecological sarcoma, with poor prognosis. These tumors are though to arise from carcinosarcomas, teratomas, or the ovarian vasculature and occur at any age. There are only a few cases reported in the international literature, most commonly associated to surface epithelial-stromal or germ cell tumours.

A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.

We describe a 6-year-old boy with a de novo 12 Mb interstitial duplication of chromosome 17q11.1q12, identified by oligo array-CGH. The patient shows psychomotor developmental and language delay, dolicocephaly, minor facial anomalies, hypotonia and renal megacalicosis.

The sigmoid volvulus: surgical timing and mortality for different clinical types.

Background: In western countries intestinal obstruction caused by sigmoid volvulus is rare and its mortality remains significant in patients with late diagnosis. The aim of this work is to assess what is the correct surgical timing and how the prognosis changes for the different clinical types.

Methods: We realized a retrospective clinical study including all the patients treated for sigmoid volvulus in the Department of General Surgery, St Maria Hospital, Terni, from January 1996 till January 2009.

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.

Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant disorder characterised by facial dysmorphisms, growth and psychomotor development delay, and skeletal defects. The known genetic causes are point mutations or deletions of the CREBBP (50-60%) and EP300 (5%) genes. To detect chromosomal rearrangements indicating novel positional candidate RSTS genes, we used a-CGH to study 26 patients fulfilling the diagnostic criteria for RSTS who were negative at fluorescence in situ hybridisation analyses of the CREBBP and EP300 regions, and direct sequencing analyses of the CREBBP gene.

Colovesical fistulae in the sigmoid diverticulitis.

In most cases Colovesical fistulae are complications of diverticular disease and representing the most common kind of colodigestive fistula; less common are colovaginal, colocutaneous, coloenteric and colouterine fistula. In this article we review the literature concerning colovesical fistulae in colorectal surgery for sigmoid diverticulitis and report on two cases that required a surgical treatment, one elective and the other in emergency. In both cases we performed a sigmoid resection with a primary anastomosis and small vesical window-ectomy placing a Foley catheter for about 10 days.

Emergency treatment of complicated incisional hernias: a case study.

Background: The emergency treatment of incisional hernias is infrequent but it can be complicated with strangulation or obstruction and in some cases the surgical approach may also include an intestinal resection with the possibility of peritoneal contamination. Our study aims at reporting our experience in the emergency treatment of complicated incisional hernias.

Methods: Since January 1999 till July 2008, 89 patients (55 males and 34 females) were treated for complicated incisional hernias in emergency.

Evaluation of hearing function after Gamma Knife surgery of vestibular schwannomas.

Object: Due to technological advances in neuroradiology in recent years, incidental diagnoses of vestibular schwannomas (VSs) have increased. The aim of this study was to evaluate the hearing function after treatment with Gamma Knife surgery (GKS) for VSs in patients adequately selected with "good" or "useful" hearing before treatment and to assess the possible predictive factors for hearing function preservation.

Methods: Of all patients treated in the authors' hospital between 2001 and 2007, they retrospectively studied 50 patients with a unilateral VS in whom there was serviceable hearing (Gardner-Robertson [GR] Class I or II).

Fibrin glue in the treatment of anal fistula: a systematic review.

Background: New sphincter-saving approaches have been applied in the treatment of perianal fistula in order to avoid the risk of fecal incontinence. Among them, the fibrin glue technique is popular because of its simplicity and repeatability. The aim of this review is to compare the fibrin glue application to surgery alone, considering the healing and complication rates.

A severe case of hemobilia and biliary fistula following an open urgent cholecystectomy.

Background: Cholecystectomy has been the treatment of choice for symptomatic gallstones, but remains the greatest source of post-operative biliary injuries. Laparoscopic approach has been recently preferred because of short hospitalisation and low morbidity but has an higher incidence of biliary leakages and bile duct injuries than open one due to a technical error or misinterpretation of the anatomy. Even open cholecystectomy presents a small number of complications especially if it was performed in urgency.

Virtual colonoscopy in stenosing colorectal cancer.

Background: Between 5 and 10% of the patients undergoing a colonoscopy cannot have a complete procedure mainly due to stenosing neoplastic lesion of rectum or distal colon. Nevertheless the elective surgical treatment concerning the stenosis is to be performed after the pre-operative assessment of the colonic segments upstream the cancer. The aim of this study is to illustrate our experience with the Computed Tomographic Colonography (CTC) for the pre-operative assessment of the entire colon in the patients with stenosing colorectal cancers.

Dexamethasone counteracts the anti-osteoclastic, but not the anti-leukemic, activity of TNF-related apoptosis inducing ligand (TRAIL).

We have analyzed the effect of the synthetic glucocorticoid dexamethasone, used alone or in combination with recombinant TRAIL, on in vitro osteoclastic differentiation of peripheral blood-derived macrophages cultured in the presence of macrophage-colony stimulating factor (M-CSF) + RANKL for 12-14 days. Dexamethasone exhibited different effects based on the concentration used. Indeed, while at 10(-7) M dexamethasone reduced the number of mature osteoclasts, at 10(-8) M showed no significant effects and at 10(-9) M significantly increased the number of mature osteoclasts, with respect to cells cultured with only M-CSF + RANKL.

Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome.

Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, microcephaly and limb abnormalities. Currently mutations of three different genes, NIPBL, SMC1A, and SMC3, are known to be related to the CdLS phenotype with an overall detection rate of about 50%. Few data are available regarding the level of autonomy in everyday life of CdLS patients.

Activation of PKC-ε counteracts maturation and apoptosis of HL-60 myeloid leukemic cells in response to TNF family members.

Protein kinase C (PKC)-epsilon, a component of the serine/threonine PKC family, has been shown to influence the survival and differentiation pathways of normal hematopoietic cells. Here, we have modulated the activity of PKC-epsilon with specific small molecule activator or inhibitor peptides. PKC-epsilon inhibitor and activator peptides showed modest effects on HL-60 maturation when added alone, but PKC-epsilon activator peptide significantly counteracted the pro-maturative activity of tumor necrosis factor (TNF)-alpha towards the monocytic/macrophagic lineage, as evaluated in terms of CD14 surface expression and morphological analyses.

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.

Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta, which can occur sporadically as an autosomal dominant condition or as one component of the Williams-Beuren syndrome, a complex developmental genomic disorder associated with cardiovascular, neurobehavioral, craniofacial, and metabolic abnormalities, caused by a microdeletion at 7q11.23. We report the identification of seven novel mutations within the elastin gene in 31 familial and sporadic cases of nonsyndromic SVAS.