The unusual association of three autoimmune diseases in a patient with Noonan syndrome.

We report on a 26-year-old female affected by Noonan syndrome (NS), a congenital disorder characterized by various phenotypic features and congenital anomalies) associated with a variety of autoimmune diseases, including systemic lupus erythematosus, celiac disease, and Hashimoto thyroiditis. Autoimmunity is seldom described in NS and the association between this congenital disease and three autoimmune disorders has not been previously reported. Should the occurrence of autoimmune disorders in NS be confirmed, a relevant clinical and laboratory evaluation of NS patients should be performed in order to clarify whether the immune system involvement represents only an occasional event or is a feature of the disease.     

Selective drop-out in successive in-vitro fertilization attempts: the pendulum danger.

Success rates from in-vitro fertilization (IVF) in the long term are dependent on selection procedures with regard to continuation into further IVF episodes. Publications on success rates in successive episodes will give incentives to adapt selection criteria, but if these publications do not deal explicitly with patient selection, the adaptations might change their direction every time: the pendulum danger.     

Oestrogen pre-treatment abolishes luteinising hormone-releasing hormone testosterone stimulation

In patients with histologically confirmed prostate cancer, oestrogen priming with diethylstilboestrol (DES) (3 mg/day) for 4 weeks prior to the first injection of the LHRH agonist Zoladex (3.6 mg depot form) prevented any rise in the serum testosterone concentration. In contrast, in the groups pre-treated with DES, the first, but not subsequent, injections with Zoladex were associated with a marked surge in luteinising hormone. Treatment with DES beyond the time of the first administration of Zoladex did not provide further endocrinological advantage. Oestrogen priming for 1 month prior to treatment with Zoladex may prevent an exacerbation of signs and symptoms of prostate cancer.     

Separation of rare cell subpopulations with the aid of biotin-labelled ligands

A universal method for selection of surface marker-positive cells is described. The cells, admixed with an excess of surface marker-negative cells, are In-st labelled with a specific biotinylated ligand and then isolated with the aid of monoclonal, anti-biotin coated beads. The method enables selection and isolation of cells with a frequency as low as 10^-4. The ligand can be an antigen (for selection of infrequent antibody-producing cells), an antibody (for selection of surface antigen-positive cells) or other molecules (for selection of specific receptor-positive cells).     

Total extrusion of the talus: A case report

Total extrusion of the talus without recovery of the bone is a very unusual injury. The authors present a case of a 25-year-old man who sustained an open total enucleation of the talus in a motorcycle accident. The talus was not recovered at the scene of the accident. An immediate tibiocalcaneal stabilization was performed by using an external fixator. In the postoperative period, a polymicrobic infection was observed and treated with parenteral antibiotics. Nine months after injury, the patient developed an infection of both the empty space and the distal third of the tibia. A wound debridement with tibial sequestrectomy and insertion of gentamicin-impregnated polymethylmethacrylate beads was performed. Three months later, after multiple negative bacteriologic examinations, a tibiocalcaneal arthrodesis with staples and autogenous bone graft was performed. Because of a pseudoarthrosis, the patient underwent a revision of the arthrodesis by retrograde tibiocalcaneal nailing, achieving clinical and radiographic success. The definitive treatment of total enucleation of the talus is still controversial because of its rarity and the high rate of complications, such as avascular necrosis, osteomyelitis, and ankle stiffness. In this case, without recovery of the talus, retrograde nailing afforded good stability by bypassing the bone defects.     

Prenatal and adult presymptomatic testing for Huntington's disease

The discovery of a fragment of DNA that is linked closely to the Huntington's-disease autosomal locus offers the opportunity for the presymptomatic diagnosis of this dominantly-inherited neurodegenerative disorder. Presymptomatic testing will present individuals and society with difficult choices and responsibilities. A pilot adult presymptomatic test programme is under way for SA families. Presymptomatic testing requires intensive counselling both before and after the test. A form of prenatal test, which is applicable to a significant proportion of couples with one partner at risk of Huntington's disease, is available also. As this form of prenatal test does not change the risk status of the parent, less extensive counselling is required and testing is available nationally through the SA programme. It is anticipated that other states will develop their own diagnostic programmes in the near future. This article explains the basis for the test, its accuracy and the importance of obtaining DNA from key individuals in pedigrees of Huntington's disease.     

Circulating levels of insulin-like growth factors 1 and 2 and somatomedin B in alcoholic patients

The levels of insulin-like growth factors 1 and 2 (IGF-1 and IGF-2) and somatomedin B in serum and cerebrospinal fluid (CSF) were investigated in alcoholic patients for 4 weeks after alcohol intake stopped. Throughout the observation period, CSF levels of IGF-2 were significantly decreased compared to those of healthy controls, whereas CSF levels of somatomedin B increased significantly 8 days after alcohol withdrawal and remained elevated throughout the observation period. CSF levels of IGF-2 were significantly correlated to measurements of ventricular enlargement on computed tomography. Somatomedin B levels were significantly correlated to clinical variables such as pulse, temperature, and agitation. No increase in the serum levels of somatomedin B were observed, but an increase in serum IGF levels was found in the patient group.