Intracardiac echocardiography in electrophysiology.

Intracardiac echocardiography (ICE) is a recent, invaluable tool which can provide real-time anatomical guidance in electrophysiological procedures. By inserting intravenously an ultrasound probe and advancing it into the heart, various different views can be obtained which allow to better visualize patient anatomy, to guide the placement of electrophysiological catheters, and to detect immediately procedural complications as they occur. In atrial fibrillation ablation, ICE proves particularly useful to achieve a safer trans-septal puncture (especially in the presence of anatomical anomalies of the interatrial septum) and to help to monitor the visualization of the mapping catheters (circular, high density), or the monitoring of the balloons catheter (Cryo, Laser) position. In ventricular tachycardia ablation, on the other hand, ICE allows for continuous correlation between electrophysiological and structural findings (such as wall motion anomalies or changes in echodensity), and helps to ensure correct catheter contact and to position it, particularly around delicate structures such as the aortic cusps. In any procedure, ICE is also useful to immediately detect procedural complications, such as thrombus formation along catheters, or pericardial effusion. Thanks to its real-time morphological information, ICE provides an ideal complement to simple fluoroscopy or to more complex electroanatomic mapping techniques and is set to gain a wider role in a broad range of electrophysiological procedures.

Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.

Allgrove syndrome (or triple A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency and autonomic/neurological abnormalities. It is caused by mutations in the AAAS gene, located on chromosome 12q13. We describe a 42-year-old patient who presented with neuropathy and was found to have alacrima, achalasia, mild autonomic dysfunction with significant central and peripheral nervous system involvement. She was later diagnosed with oligosymptomatic triple A syndrome. Sequencing of the AAAS gene identified two heterozygous mutations within exon 14 and its donor splice site (p.L430F-c.1288C>T and c.1331+1G>T), one of which is novel. Allgrove syndrome should be suspected in patients with neurological impairment associated with two or more of the main symptoms (alacrima, achalasia or adrenal insufficiency).

Allometric extension.

Constants of allometric growth are commonly estimated by the first eigenvector of the covariance matrix of log measurements. Hills (1982, in Encyclopedia of Statistical Sciences, 48-54) defines a model of allometric extension for two related species by the conditions that (a) the constants of allometric growth are identical for both species and (b) the vector of mean differences is proportional to the common first eigenvector of both covariance matrices. We give a test for allometric extensionand discuss estimation of the parameters of the allometric extension model, including standard errors.

[The interposed jejunal loop after resection for gastric ulcer (endoscopic study)]. / L'ansa digiunale interposta dopo resezione per ulcera gastrica (studio endoscopico).

Authors refer about an endoscopic study concerning twenty patients who have been previously operated for gastric ulcer. In these patients it was performed a reconstruction of the alimentary canal by means of a gastro-duodenal interposition of an isoperistaltic jejunal loop. Authors show that this method has been proved valid to prevent duodeno pancreatic reflux in the residual gastric sac.

[The cost of energy and cardiovascular expenditure in basketball players during a game]. / Stima dell'impegno energetico e cardiovascolare del giocatore di basket nel corso di una gara.

Energy expenditure was evaluated for 6 Basket players while exercising on a cyclergometer. Oxygen consumption (VO2), pulmonary ventilation (VE), heart rate (HR), respiratory quotient (QR) and other parameters were estimated at various levels of load (25 Watt each step of 3 minutes duration), till to submaximal load of 175 Watt. The same subjects participate to a regular Basket game and their heart rate was continuously stored on a tape recorder (Holter). Arterial blood pressure was also taken whenever possible (timeout, etc). From the laboratory and field data, estimates were made for the oxygen consumption together with energy cost of the game. This can be assume a net value of 0.1339 Kcal X Kg-1 X min-1.

The value of CT in genetic counseling in tuberous sclerosis.

The families of two patients with known tuberous sclerosis were electively evaluated by computed tomography. The CT positive (and negative) examination proved to be valuable for the genetic counseling of family members without overt clinical manifestations of tuberous sclerosis. Two patients had evidence of smaller enhancing lesions (minimal demonstrable mass without hydrocephalus) following intravenous contrast enhancement. We, therefore, suggest the use of contrast enhanced scans in addition to the plain scans to identify what may represent occult neoplasms. Abdominal CT scans can prove useful in identifying the frequently associated renal hamartomas.

The cerebro-hepato-renal (Zellweger's) syndrome: report of four cases.

Four cases of cerebro-hepato-renal syndrome are described. Radiographic findings of scimitar-shaped calcifications of the patellae and stippled cartilage califications have previously been described. We noted calcifications in the area of the greater trochanters in 2 of our patients, and bell-shaped thoraces in all patients. One of our patients is the longest survivor of the children affected by this syndrome.