Therapy with sirolimus in vascular anomalies: the experience of two Italian centers on 14 pediatric patients.

Introduction: Vascular anomalies (VAs) constitute a heterogeneous group of tumors and malformations capable of inducing significant clinical events in specific patients, such as the compression of vital organs, pain, functional impairment, or acquired coagulopathy. Molecular investigations into the underlying mechanisms of VAs have unveiled the frequent involvement of the PI3 K/AKT/mTOR pathway. Sirolimus, a specific mTOR inhibitor, has emerged as a potential therapeutic agent; however, its routine clinical application in complex VAs is currently restricted by a lack of extensive clinical experience.

Implications of an Underlying Beckwith-Wiedemann Syndrome for Wilms Tumor Treatment Strategies.

Beckwith-Wiedemann Syndrome (BWS) is a pediatric overgrowth disorder involving a predisposition to embryonal tumors. Most of the tumors associated with BWS occur in the first 8-10 years of life, and the most common is Wilms tumor (WT). BWS clinical heterogeneity includes subtle overgrowth features or even silent phenotypes, and WT may be the presenting symptom of BWS.

New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with deficiency: does it fit with the syndrome?

Background: ) is a member of the homeodomain-containing family of transcription factors located on 17q12. deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic insufficiency) and to an underdiagnosed liver involvement. Differently from , the correlation between hepatocellular carcinoma (HCC) and germline deficiency has been poorly evaluated.

Idiopathic bilateral jugular phlebectasia in a 9-year-old boy.

A nine-year-old boy came to our clinic for the appearance of a voluminous swelling at the base of the neck in the jugular area after coughing. He underwent fibroscopy and a contrast-enhanced chest computed tomography (CT) scan, which did not indicate pathological findings even during the Valsalva maneuvre. After a color-Doppler ultrasound of the epiaortic vessels was obtained, a diagnosis of idiopathic phlebectasia of the internal jugular veins was made.

Role of axillary ultrasound in the preoperative diagnosis of lymph node metastases in patients affected by breast carcinoma.

Purpose: This study was conducted to evaluate the diagnostic accuracy of axillary ultrasound (US) alone or in combination with fine-needle-aspiration cytology (FNAC) in patients with breast carcinoma, in comparison with the final histological examination (sentinel node biopsy and/or axillary dissection).

Materials And Methods: Between January 2005 and June 2008, we evaluated 427 breast cancer patients with axillary US. The findings were classified according to the following criteria: hilum and cortex morphology, ratio between longitudinal and transverse diameter and ratio between hilar and longitudinal diameter of the lymph node.

Interactions of alpha-melanotropin and agouti on B16 melanoma cells: evidence for inverse agonism of agouti.

alpha-Melanocyte-stimulating hormone (alpha-MSH, alpha-melanotropin) and agouti control the switch between eumelanin and pheomelanin synthesis in mammalian melanocytes. Here we investigated interactions between alpha-MSH, agouti protein, cAMP elevating agents and phorbol ester on mouse B16 melanoma cells. Agouti (Kd 3.

Induction of constitutive melanogenesis in amelanotic mouse melanoma cells by transfection of the human melanocortin-1 receptor gene.

The human melanocortin-1 (MC1) receptor was stably expressed in the amelanotic mouse melanoma cell clone B16-G4F which does not express its own (mouse) MC1 receptor and hence is unresponsive to alpha melanocyte stimulating hormone (alpha MSH). From several stable transfectant cell lines expressing the human MC1 receptor in relatively high numbers, three melanin producing clones (G4F-12, 14, and 15) and one amelanotic clone (G4F-7) were further analyzed in competition binding experiments and in cAMP and melanin assays. The dissociation constants (KD) for [Nle4, D-Phe7]-alpha MSH in all four clones ranged from 0.

[Use of the subclavian vein for permanent cardiac stimulation].

The experience on 101 cases of permanent cardiac stimulation is reported; in all of them, the access was via the subclavian vein. Punction of the subclavian artery, transient injury of the brachial plexus and pneumothorax, were seen in 4.3 and 3% respectively.