Osteoporosis in Stickler syndrome. A new family case with bone histology study.

The Stickler syndrome (SS) has been described as a "hereditary progressive arthro-ophtalmopathy" by Stickler in 1965, due to mutations on the collagen genes. Currently about 40 different genes have been identified which encode for at least 27 different collagens. The majority of mutations occur in the COL2A1 gene on chromosome 12q13 (SS type I). Mutations in COL11A1 are less frequent (SS type II). More recently, mutations in COL11A2 and in the COL9A1 gene have been reported with particular phenotypes. The main features of this autosomal inherited disease are ocular, auditory with orofacial abnormalities and early-onset osteoarthritis. We report the clinical presentation of an adult and his son, with a particular focus on the bone status of the father, radiography, bone densitometry and transiliac bone biopsy showing that he was suffering from osteoporosis. The lumbar bone mineral density was low with a Z-score at -2.9. Transiliac bone biopsy showed a dramatic decrease of trabecular bone volume (8.6%; Nl: 19.5±4.9%), thin trabeculae and a disorganized trabecular network. A slight increase of osteoid parameters was observed. Bone resorption was markedly increased with an excessive number of active (TRAcP+) osteoclasts. The cortical width was normal, but a slight increase of cortical porosity was found. Osteoporosis has been rarely described in the SS. It might be useful to systematically perform a bone densitometry in all patients with SS and to discuss the indication of a transiliac bone biopsy in severe cases.

[Gallbladder calculi: what therapy of choice?]. / Calcolosi della colecisti: quale terapia in elezione?

The Authors have analyzed all different methods for the treatment of gallbladder stones which are performed today: the non invasive treatment of the gallstones (oral dissolution therapy and the extracorporeal shockwave lithotripsy), the minimally invasive procedures (contact dissolution therapy and the cholecystolithotomy) and at the end the new surgical techniques (the "minicholecystectomy" and the laparoscopic cholecystectomy). From this study and their experience, based upon 1346 standard cholecystectomy, the Authors have reached the following conclusions: 1) the cholecystectomy remains the only definitive therapy for the gallbladder stones and it is the gold standard to which must be compared the other alternative therapies; 2) the laparoscopic cholecystectomy, even though introduced recently, would become the only method used for cholecystectomy.

[Total parenteral nutrition in a general surgery department. Our initial experience]. / La nutrizione parenterale totale in un reparto di chirurgia generale. Nostra prima esperienza.

The Authors refer on their first experiences on the use of TPN with brief considerations on the results. A few precautions for the avoidance of the most common complications are reviewed.

[Reconstructive surgery in high-risk arteriopathic patients]. / Chirurgia ricostruttiva nei pazienti arteriopatici ad alto rischio.

The authors refer on 24 patients over 65 years of age suffering from obliterating arteriopathy of the lower limbs undergoing reconstructive surgery no matter the high surgical risk. These patients represent 12.3% of all vascular patients treated in five years of activity. The following risk factors are considered: 1) Heart disease; 2) Altered lipid metabolism; 3) Diabetes; 4) Arterial hypertension; 5) Hyperuricaemia; 6) Obesity; 7) Renal or hepatic insufficiency. Immediate results were excellent in 23 cases; one patient suffering from aortic barrage died of acute haemorrhagic pancreatitis. Follow-up results also remained good; only one patient had to be re-operated two years later (disobliteration of branch of prosthesis) with a happy outcome. Two other patients died because of non vascular causes. The authors do not consider age amongst risk factors and prefer the extraperitoneal approach in disobliterating operations and refer using the transperitoneal route without problems in aortobifemoral bypasses. The authors state that risk factors did not alter neither the short nor the long-term follow-up results possibly because of medical correction of associated pathological states.