Identification of a Novel Nonsense Mutation in a Patient with Transfusion-Dependent Hb H Disease.

Background: Hb H disease is a form of α-thalassemia. The high clinical variability is influenced by the exact combination of mutations. Here we report on a 29-year-old female patient from Afghanistan who received regular blood transfusions since her childhood.

Acute peripartum twin-twin transfusion syndrome: incidence, risk factors, placental characteristics and neonatal outcome.

Aim: The aim of this study was to examine the incidence, placental characteristics and outcome in acute peripartum twin-twin transfusion syndrome (TTTS).

Material And Methods: All consecutive cases of monochorionic (MC) twins admitted to our center were included in the study. We excluded cases with chronic TTTS or twin anemia polycythemia sequence.

Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors.

Background: Neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome characterized by the development of benign nerve-sheath tumors, which transform to malignant peripheral nerve-sheath tumors (MPNST) in about 8 to 13% of patients with NF1. MPNST are invasive sarcomas with extremely poor prognosis, and their development may correlate with internal tumor load of patients with NF1. Because early identification of patients with NF1 at risk for developing MPNST should improve their clinical outcome, the aim of this study was to identify serum biomarkers for tumor progression in NF1, and to analyze their correlation with tumor type and internal tumor load.

Impaired Pten expression in human malignant peripheral nerve sheath tumours.

Malignant peripheral nerve sheath tumours (MPNST) are aggressive sarcomas that develop in about 10% of patients with the genetic disease neurofibromatosis type 1 (NF1). Molecular alterations contributing to MPNST formation have only partially been resolved. Here we examined the role of Pten, a key regulator of the Pi3k/Akt/mTOR pathway, in human MPNST and benign neurofibromas.