Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.

We describe the underlying genetic cause of a novel Rett-like phenotype accompanied by areflexia in three methyl-CpG-binding protein 2-negative individuals from two unrelated families. Discovery analysis was performed using whole-exome sequencing followed by Sanger sequencing for validation and segregation. Functional studies using short-hairpin RNA for targeted gene knockdown were implemented by the transfection of mouse cultured primary hippocampal neurons and in vivo by in utero electroporation.

Parotidectomy for parotid tumours: 19-year experience from The Netherlands.

A total of 150 patients were treated for parotid tumours over a period of 19 years. In 94 per cent superficial or total parotidectomy was performed. Histological diagnosis of the resected specimen revealed pleomorphic adenoma in 92 patients (61 per cent), Whartin's tumour in 30 (20 per cent), various benign neoplasms in 11 (7 per cent) and malignant tumour in 17 (11 per cent).

Intraluminal Miller-Abbott tube stenting as treatment and prophylaxis of recurrent intestinal obstruction.

Chronic recurrent intestinal obstruction due to massive adhesions after abdominal surgery is a complication that is difficult to treat. The records were studied of 25 patients with acute intestinal obstruction due to massive adhesions. Since conservative measurements were unsuccessful, the patients were treated with internal intestinal splinting by means of a Miller-Abbott tube.

Prevention of pulmonary embolism by caval interruption with a Greenfield vena cava filter: a report of four cases.

Interruption of the vena cava is the treatment of choice for patients with thrombosis of the femoral or iliac vein in whom anticoagulants have to be discontinued or cannot prevent recurrent pulmonary embolism. The technique of interruption of the vena cava is outlined and illustrated by the case history of four patients, treated with a Greenfield vena cava filter.

[Breast carcinoma in women younger than 30 years].

Breast cancer is rare in females younger than 30 years. In a retrospective study of 25 women the effects of the early age on diagnosis, treatment and prognosis were investigated. In 21 women there was a clinical or radiological suspicion of carcinoma.