Liver transplantation in neurological Wilson's Disease: is there indication? A case report.

Wilson's disease (WD) is an autosomal recessive disorder characterized by copper overload. In this disease, inadequate hepatic excretion leads to copper accumulation in the liver, brain, kidney, and cornea. Severe neurological symptoms can develop in patients with WD, often in the absence of relevant liver damage: it is unclear whether liver transplantation (LT) could reverse neurological symptoms, and at present LT is not recommended in this setting. We report a case of regression of neurological symptoms in a patient affected by WD with prevalent neurological involvement. A 19-year-old man with disabling neuropsychiatric symptoms from WD that included frontal ataxia, akinesia, dystonia, tremors, and behavioral disorders in the presence of preserved liver function (Model for End-Stage Liver Disease score=7; Child-Turcotte-Pugh score=A5) underwent LT in November 2009. At the time of LT, encephalic magnetic resonance imaging (MRI) indicated diffuse neurodegenerative alterations involving subtentorial and supratentorial structures; bilateral Kayser-Fleischer ring was present. Four years after LT, laboratory tests show normalized copper metabolism and excellent liver function test results. Encephalic MRI shows a substantial improvement of already-known signal alterations at nuclei thalamus and putamen, mesencephalon, and pons. Kayser-Fleischer ring disappeared from the right eye, but a little remnant is still visible in the left eye. At neurological examination, all of the previous symptoms and signs are no longer present and behavioral disorders are no longer present; psychosocial functions are completely restored. The present case provides some evidence that LT may be a valid therapeutic option for WD patients with marked neurological impairment, particularly in those no longer responsive to chelation therapy.

Diagnostic criteria for apical ballooning derived from quantitative analysis of left ventricular angiograms.

AIM: The aim of this study was to evaluate diagnostic criteria for apical ballooning (AB) derived from quantitative analysis of left ventricular angiograms. AB is an unusual cause of left ventricular dysfunction mimicking acute transmural ischemia (STEMI). METHODS: This study compared the systolic and diastolic linear measures of left ventricle (LV) of ten consecutive patients with AB to those obtained in a control group of STEMI patients. These measures allowed the calculation of the systolic shortening of the long and short axis of the LV. RESULTS: Systolic short axis and long axis shortening are significantly different in the two groups, so that both the systolic and diastolic sphericity indexes (SI) were much lower in AB patients (diastolic SI: 1.62+/-0.18 vs. 1.81+/-0.16; P=0.026 and systolic SI: 1.58+/-0.22 and 2.48+/-0.54 P<0.001). Moreover, a long axis shortening >0.6 cm was 100% sensitive and specific for AB. CONCLUSIONS: This study demonstrated that AB can be differentiated from STEMI by means of imple parameters of LV motion with a high degree of sensitivity and specificity.

Technical solutions for venous outflow reconstruction in damaged liver grafts during procurement: case reports.

The incidence and clinical consequences of hepatic injuries (parenchymal, vascular, and biliary) due to surgical handling during multiorgan procurement are still underestimated. Surgical damage to liver grafts may lead to an increased mortality and graft dysfunction rate; therefore, multiorgan procurements require a high level of expertise and training. We report our experience in two cases of accidental venous outflow damage during liver procurement focusing on our repair strategies. In one case, a short suprahepatic inferior vena cava (IVC) was extended by a venous cuff obtained from a long infrahepatic IVC from the same liver graft. In the second case, we observed a complete transection of the middle hepatic vein during in situ splitting procedure. The damage was reconstructed by cadaveric iliac vein interposition. In both cases, liver transplantation was successfully performed without venous complication. An adequate surgical technique in liver procurement and venous reconstruction during living donor and domino liver transplantation are formidable tools to achieve successful liver transplantation with a damaged graft.

Predictors of mortality at 30 days in high-risk patients treated with direct or rescue stenting for acute myocardial infarction: a single center experience.

BACKGROUND: Coronary stenting in acute myocardial infarction (AMI) is associated with a very low adverse event rate when performed at selected centers in clinical trials. However, because of exclusion criteria, a low-risk population is usually selected, while potential benefits of stenting should be investigated in an unselected population, including a larger proportion of high-risk patients. METHODS: We analyzed results obtained in 120 consecutive high-risk patients (mean age, 64 years; range, 38-95 years; 76% male), so defined according to the presence of 1 of the following: age > 75 years; Killip class 3; cardiogenic shock; 3-vessel or left main disease; ejection fraction < 45%; anterior AMI; previous bypass surgery; and/or out-of-hospital cardiac arrest. A primary procedure was performed in 63 patients and a rescue procedure in 57 patients. Stenting was attempted in all patients in which coronary occlusion could be crossed with the guidewire (117/120) and was successful in 115/117 (98%). RESULTS: Procedural success (TIMI 3 flow and residual stenosis < 20%) was obtained in 105 patients (88%), while a suboptimal result (TIMI 2 flow) was achieved in 9 patients (8%). At 30 days, twenty patients had died (17% mortality). For patients non in cardiogenic shock, 30-day mortality was 3.2%. At multivariate analysis, cardiogenic shock (p < 0.0001), peak CK-MB mass (p = 0.01), and suboptimal result (p = 0.018) were significant independent predictors of 30-day mortality. Rescue procedures were associated with a significant protective effect with respect to mortality (p = 0.033). CONCLUSION: In our series, high-risk patients treated with percutaneous intervention for AMI had a very high mortality rate in the presence of cardiogenic shock, despite the use of stents, intra-aortic balloon pumping and abciximab. In the remaining patients, acceptable results were obtained even in the presence of 1 or more risk factors. Rescue stenting does not seem to be associated with increased risk compared to primary stenting.

Abciximab in rescue coronary angioplasty after full-dose tissue-type plasminogen activator.

BACKGROUND: Rescue angioplasty is a complex procedure because of frequent reocclusions secondary to a paradoxical pro-thrombotic effect brought about by thrombolytic therapy. Administration of abciximab may improve procedural results but its utilization in this setting is limited by the potential hemorrhagic risk. Very few data on this approach are currently available in the medical literature. METHODS: After failed full-dose tissue-type plasminogen activator (tPA), 30 patients (23 males, 7 females, mean age 64 +/- 13 years) referred for rescue angioplasty received abciximab (0.25 mg/kg bolus + 0.125 mcg/kg/min x 12 hour infusion) (Abc+ group). The procedural results, hemorrhagic complications and in-hospital outcome observed in these patients were compared to those of 35 patients submitted to rescue angioplasty in the same time period (1997-1999) who did not receive abciximab (Abc- group). RESULTS: In the Abc+ group, 11 patients (37%) were in Killip class 3-4, 14 (47%) had multivessel disease, and 4 (13%) had previous bypass surgery. In all Abc+ patients, factors suggestive of procedural failure were present (i.e. saphenous vein graft occlusion, intraluminal thrombus, dissection, reocclusion, slow flow). The periprocedural heparin dose was 5,000 IU in Abc+ and 100 IU/kg in Abc-patients (range 5,000-10,000 IU). The procedure was successful in 29 Abc+ (97%) and in 34 Abc- patients (97%). A hemoglobin drop > 5 g occurred in 3 Abc+ (10%) and in 4 Abc- patients (11%) with a similar incidence of blood transfusion in the two groups. In all these cases, significant bleeding occurred at the vascular access site. There were 2 in-hospital deaths in Abc+ and 1 in Abc- patients. CONCLUSIONS. Selected patients undergoing rescue angioplasty may be treated with abciximab without an undue increase in hemorrhagic complications. Larger studies are needed to confirm the feasibility of this approach and to assess its potential benefits.

Procedural results, in-hospital course and six-month follow-up after rescue compared to primary stenting in acute myocardial infarction.

BACKGROUND: Although many previous reports showed a worse outcome after rescue compared to primary coronary angioplasty, a direct comparison of these two strategies in the era of stenting is lacking. METHODS: Fifty patients treated with rescue stenting were retrospectively compared to 61 patients treated with primary stenting during acute myocardial infarction over a 4-year period in our Laboratory. RESULTS: Baseline demographic and angiographic parameters were not significantly different in the two groups. Despite a significantly longer time-to-reperfusion in rescue stenting (4.7 +/- 2.7 vs 2.8 +/- 2.1 hours, p < 0.0001), procedural success rate (98 vs 97%), in-hospital mortality (6 vs 11%) and target vessel revascularization at 6 months (8 vs 10%) were similar in rescue compared to primary stenting. CONCLUSIONS: These data suggest that stenting may help improve results of rescue angioplasty, and support the concept that aggressive treatment after failed thrombolysis can be pursued with satisfactory results.

Cardiopulmonary exercise testing in syndrome X.

Patients with syndrome X have been found to have an abnormal coronary blood flow reserve. The physical performance during exercise, however, has been incompletely investigated. Cardiopulmonary exercise testing (CPX) is a reliable noninvasive method to provide indexes of lung, heart, circulation, and muscle functions. In 15 patients (10 women) with syndrome X and in age and sex-matched normal individuals, CPX was performed twice a day (8 AM and 4 PM) on two separate occasions 2 months apart. Time and oxygen consumption at peak exercise, at ventilatory anaerobic and electrocardiographic thresholds, as well as norepinephrine plasma concentrations at each work load and at peak exercise in both tests were obtained. In syndrome X in both evaluations, the 4 PM performance was characterized by an earlier onset of both ventilatory anaerobic and electrocardiographic thresholds despite lower values of VO2 and double-product, and by a greater peak ST segment depression despite similar total exercise time, VO2, and double-product. No difference between tests was found in the norepinephrine response to exercise. Normal subjects showed reproducible CPX and hormonal responses in the two tests. Thus these data may suggest a circadian variation of coronary vascular response to exercise in patients with syndrome X, leading to a lower ischemic threshold early in the afternoon. The parallel earlier onset of the ventilatory anaerobic threshold may reflect a concomitant abnormal muscular blood flow response (that is, vasoconstriction of working muscle arteries), suggesting a link between coronary and peripheral circulations.

[Isolated ACTH deficiency and transient GH deficiency. Presentation of a case]. / Deficit isolato di ACTH e transitorio deficit di GH. Presentazione di un caso.

In a 46 year old man, who arrived at our observation suffering for three months from considerable increasing weakness and progressive impairment of libido, we documented a condition of secondary hypocorticism due to an isolated ACTH deficiency associated with a reduced somatotropin reserve, the last improved after treatment with corticosteroids. We found low serum levels of ACTH and cortisol, good response of adrenal glands to corticotropin depot, normalization of the clinical board during glucocorticoid replacement. Stimulating test with CRH (corticotropin releasing hormone) did not cause a response in ACTH, suggesting the presence of primitive damage of the hypophyseal corticotroph cells.