Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.

Heterozygous deleterious null alleles and specific missense variants in the DNA-binding domain of the ETS2 repressor factor (ERF) cause craniosynostosis, while the recurrent p.(Tyr89Cys) missense variant is associated with Chitayat syndrome. Exome and whole transcriptome sequencing revealed the ERF de novo in-frame indel c.

Biological indices predictive of survival in 519 Italian terminally ill cancer patients. Italian Multicenter Study Group on Palliative Care.

The knowledge of prognostic factors capable of subdividing cancer patients into groups having homogenous survival times is useful even in very advanced stages of illness. This prospective multicenter study assessed these prognostic factors in 530 terminal patients with solid tumors who were undergoing only palliative care. Thirteen hematological and urinary parameters were assessed on admission and every 28 days thereafter.

Assessing quality of life in patients with cancer: a comparison of a visual-analogue and a categorical model.

A simple instrument for self-assessment of quality of life (QL) in patients with cancer was elaborated using a linear analogue scale (LAS). The instrument was based on five questions, exploring different functional areas; the same questions were also addressed in a parallel format, where problems were seen from an opposite point of view (positive/negative). The LAS was given to 222 patients, for a total of 372 tests collected.

Synchronous primary hepatic lymphoma and epidermoid lung carcinoma treated with chemotherapy and surgery.

While involvement of the liver by non-Hodgkin's lymphoma is a relatively frequent event, primary liver lymphoma is an uncommon disease. We describe a case of synchronous primary hepatic lymphoma and epidermoid lung carcinoma occurring in a 61-year-old male patient. Complete remission of both diseases was achieved with a radical approach, which included combination chemotherapy and surgery.

Advanced epithelial ovarian cancer: no difference in survival rate between exploratory laparotomy and inadequate debulking surgery as treatment approach before chemotherapy.

In this study we have retrospectively evaluated 40 untreated patients with stage III-IV (FIGO) epithelial ovarian cancer. Sixteen patients had received, as initial treatment, inadequate surgical removal of the tumor with bulky residue (BR) of disease and 24 had had an exploratory laparotomy (EL) only. Subsequently, both groups received equivalent chemotherapy consisting of AC combination (adriamycin, cyclophosphamide) in 25 patients.

A phase II study with teniposide (VM26) in patients with progressed or relapsed small cell lung cancer (SCLC).

Sixteen patients with advanced small cell lung cancer who relapsed or progressed under first-line therapy, were treated with second-line chemotherapy consisting of: teniposide, 60 mg/m2, i.v. days 1-5, every 3 weeks until further progression.

[Survival curves of 169 cases of primary lung cancer].

169 lung cancer patients were studied and their survival curves analysed after classification according to various parameters (clinical stage using the TNM method, histological type, and morphoradiological type). The resulting tragic picture is further confirmation of the primary importance of prompt diagnosis as well as an appropriate prevention strategy.