Screening of homocysteine from newborn blood spots by high-performance liquid chromatography with coulometric array detection.

Homocystinuria, due to a deficiency of cystationine-beta-synthase, refers to the rare inborn error of the metabolism of homocysteine. The identification and prompt treatment of homocystinuria during the neonatal period can prevent or greatly reduce the severity of the clinical consequences. We report a new method for homocystinuria diagnosis from dried blood spots on newborn screening cards, based on high-performance liquid chromatography with electrochemical coulometric array detection. This method shows an excellent linearity (y=10.36x+0.04; r=0.999), precision (RSDs ranged from 2.7 to 5.8%), recovery (87%) and appears to be a cost-effective approach, being simple, rapid, sensitive and cheap.

Gallbladder emptying in patients with primary achalasia.

Being more evident that primary achalasia is not confined to the esophagus and that it may involve other organs in the digestive tract, gallbladder emptying was ultrasonographically evaluated in 10 patients affected with primary achalasia and in 10 controls. An intravenous cerulein infusion was used to induce gallbladder contraction. Eight out of 10 achalasic patients had a lower gallbladder emptying, and 6 out of 10 had a markedly delayed gallbladder emptying compared with the controls. Achalasic patients, taken as a whole, showed a significantly lower and delayed mean gallbladder emptying when compared with the controls. Such a finding confirms the possible extra-esophageal extension of primary achalasia. In this study, the hypothesis of impaired cholinergic gallbladder innervation in primary achalasia is discussed.

Magnetocardiographically-guided catheter ablation.

After more than 30 years since the first magnetocardiographic (MCG) recording was carried out with induction coils, MCG is now approaching the threshold of clinical use. During the last 5 years, in fact, there has been a growing interest of clinicians in this new method which provides an unrivalled accuracy for noninvasive, three-dimensional localization of intracardiac source. An increasing number of laboratories are reporting data validating the use of MCG as an effective method for preoperative localization of arrhythmogenic substrates and for planning the best catheter ablation approach for different arrhythmogenic substrates. In this article, available data from literature have been reviewed. We consider the clinical use of MCG to localize arrhythmogenic substrates in patients with Wolff-Parkinson-White syndrome and in patients with ventricular tachycardia in order to assess the state-of-the-art of the method on a large number of patients. This article also addresses some suggestions for industrial development of more compact, medically oriented MCG equipments at reasonable cost.

Fine-needle liver biopsy in patients with severely impaired coagulation.

Severe coagulation defects, as reflected by platelet count and prothrombin time, have always been considered a contraindication to needle biopsy of the liver, but there are very limited data on the actual rate of bleeding in patients with such severe alterations and none whatsoever on the bleeding risk associated with newer, fine-gauge needles that produce less trauma to the liver tissue. In addition, there has never been any evidence that platelet count and/or prothrombin time are the most sensitive indices of bleeding risk. This retrospective study of 85 patients, with platelet counts less than 50,000/mm3 and/or prothrombin times less than 50% of controls, subjected to ultrasound-guided fine-needle liver punctures for diagnostic or therapeutic (percutaneous ethanol injection) purposes showed no bleeding episodes after any of the 229 punctures performed. No type of replacement therapy was administered to correct clotting defects prior to the procedure. Correct pathologic diagnoses were obtained in 81.2% of all patients. Ultrasound-guided fine needle puncture appears to be safer than currently believed in patients with severe clotting defects and deserves further evaluation as an alternative to surgical procedures to diagnose and treat liver lesions, even when severe coagulation impairment is present.

Focal ultrasound lesions in cirrhotic liver diagnosed as regenerative nodules by biopsy. A morphometric analysis.

Ten cirrhotic patients with ultrasonically discernible focal liver masses underwent fine cutting needle biopsy. Specimens were obtained from the focal lesions under ultrasound guidance and histologically diagnosed as regenerative nodules. An image analyzer was then used to determine the cytoplasmic area, nuclear area, and nuclear/cytoplasmic ratio for 100 randomly selected cells from each specimen. Data were then compared with data for specimens of normal liver tissue and data from patients with alcoholic or posthepatic cirrhosis or well-differentiated hepatocellular carcinoma (HCC). The morphometric parameters for the group of regenerative nodule specimens fell within an intermediate range between those for HCC and the nondysplastic samples, strongly suggesting a preneoplastic nature. Nine of the 10 regenerative lesions showed liver cell dysplasia, and 3 of these patients developed HCC during follow-up. Ultrasonically discernible focal masses in a cirrhotic liver should be considered preneoplastic, if not neoplastic lesions and treated aggressively to prevent their progression to outright malignancy.

Cruveilhier-Baumgarten syndrome: an efficient spontaneous portosystemic collateral preventing oesophageal varices bleeding.

The protective role of large spontaneous portosystemic shunts in oesophageal varices bleeding due to portal hypertension in liver cirrhosis is still debated. A series of 20 consecutive patients with haemodynamically efficient collaterals involving the para-umbilical-epigastric venous route (evaluated by Echo-Doppler flowmetry) is reported. All patients presented absent or mild oesophageal varices at endoscopy. During a mean follow-up period of 23.5 months, no patient developed large varices or experienced variceal bleeding. Hepatic encephalopathy was present in 35% of patients. Haemodynamically efficient spontaneous portosystemic shunts may protect cirrhotic patients from the risk of oesophageal varices forming and bleeding. The diversion of large amounts of blood from portal to systemic circulation correlates with the higher trend of hepatic encephalopathy in these patients.

Hypoechoic lesions in the 'bright liver': a reliable indicator of fatty change. A prospective study.

The accuracy of ultrasonographic diagnosis of hypoechoic focal fatty change in the 'bright liver' was evaluated in 40 lesions found in 35 patients followed up for a mean period of 37.8 months. Patients with ultrasound and laboratory findings suggesting liver cirrhosis were excluded from the study. All patients underwent a blind liver biopsy in order to verify the diagnosis of diffuse disease suggested by the finding of 'bright liver'. No guided biopsy was performed on the focal lesions in order to establish the accuracy of ultrasound alone in recognizing focal fatty change. Clinical, haematologic and echographic follow-up confirmed the diagnosis in all cases. All histological specimens revealed liver steatosis, indicating a 100% sensitivity of ultrasonography in identifying non-cirrhotic fatty liver with an accompanying focal change. Increased echogenicity and hypoechoic focal changes are reliable indicators of fatty infiltration, making ultrasonography an acceptable, non-invasive method for the diagnosis of liver steatosis.

Doppler ultrasound evaluation of acute effects of cigarette smoking on portal blood flow in man.

The acute systemic haemodynamic effects of cigarette smoking are well known, but there are no studies dealing with the possible smoke-related acute changes of splanchnic circulation in man. In the present study we evaluated the acute effects of cigarette smoking on portal blood flow (PBF) in normal subjects by the use of Doppler ultrasound. Twenty-three normal volunteers were asked to smoke two cigarettes with a known total nicotine content (1.1 mg each) in a supine position. Each cigarette was smoked during a 5 min period and a 5 min interval between the two cigarettes was allowed. Both mean PBF velocity and volume were evaluated at time 0 (basal values) and 8, 15, 30, 45 and 60 min after the first inhalation of the first cigarette. The basal mean PBF velocity (22 cm/s; 95% CI 20.9-24.2) was significantly decreased at 8 min (19 cm/s; 95% CI 17.9-20.8; P < 0.0007) and 15 min (20 cm/s; 95% CI 17.8-21.3; P < 0.005). Similarly, the PBF volumes at 8 min (710 mL/min; 95% CI 660-876; P < 0.002) and 15 min (750 mL/min; 95% CI 650-862; P < 0.005) were significantly lower than those measured at time 0 (850 mL/min; 95% CI 766-987). Both mean PBF velocity and volume measured at successive times did not differ significantly from basal values. The present study shows that cigarette smoking causes acute and transient reduction of PBF velocity and volume in normal subjects.

Free-hand technique with ordinary antisepsis in abdominal US-guided fine-needle punctures: three-year experience.

PURPOSE: To evaluate the adequacy of ordinary antisepsis in ultrasound (US)-guided free-hand fine-needle puncture. MATERIALS AND METHODS: Diagnostic and therapeutic procedures (n = 573) were performed in 456 patients. No puncture attachments, sterile gloves, or drapes or covers were used. Before each procedure the transducer was cleaned with a solution of water and 70% alcohol. No needles were contaminated. Patients were monitored for 5 days to exclude sepsis. Subsequently, the patients underwent follow-up blood and laboratory testing, including testing for for hepatitis B and C markers and human immunodeficiency virus antibodies, every 3 months for 6 months. The operators underwent the same follow-up for the first 6 months and for an additional 6 months. RESULTS: No patient or operator presented with fever or sepsis or with negative viral or hepatitis markers that became positive during follow-up. CONCLUSION: Use of this free-hand US-guided technique with ordinary antisepsis is safe for patients and operators, and it allows savings in time and the cost of materials.