Arrhythmogenic right ventricular dysplasia/cardiomyopathy presenting as ST-segment elevation myocardial infarction: A case report

Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is often challenging due to differing clinical presentations and unpredictable progression of the disease. We report a case of ARVD/C that presented as cardiac arrest in an 18-year-old male while playing soccer. The electrocardiographic features after resuscitation were typical of anterior ST-segment elevation acute myocardial infarction, and the patient was initially managed accordingly. Importantly, an urgent coronary angiogram revealed completely normal coronary arteries. ARVD/C was first suspected following an echocardiogram, and was later confirmed by cardiac magnetic resonance. One month before the event, the patient had been evaluated for ventricular extrasystoles and an abnormal resting electrocardiogram, however ARVD/C was ruled out because of the presence of only two minor diagnostic criteria (T-wave inversion in anterior precordial leads in the absence of right bundle branch block and more than 1000 ventricular extrasystoles during 24-h Holter monitoring). In consequence, physical activity was not forbidden.In conclusion, this case report enforces the need for a strict prohibition of physical activity and serial evaluation of individuals with only minor diagnostic criteria for ARVD/C, for lacking sensibility of Task Force diagnostic criteria.     

Cranial computed tomography findings in children with acute lymphoblastic leukemia at diagnosis

Forty children newly diagnosed with acute lymphoblastic leukemia (ALL) were examined by computed tomography (CT) of the central nervous system (CNS) on hospital admission before any medication was started. The results of the CT scans were defined as normal, borderline (slight or moderate dilatation of the ventricular system and/or basal cisterns and/or convolutional sulci), or pathologic (severe cerebral atrophy). The mean age of the patients was 5.8 years (range 1.7-15 years). Sixteen of the 40 patients (40%) had CT scan abnormalities with 14 patients having borderline scans and two patients pathologic scans. No child presented with neurologic symptoms or CNS leukemia. These data suggest that CT abnormalities of the brain are common in children with ALL at diagnosis and may represent clinically unsuspected lesions secondary to leukemia.     

Total thyroidectomy for management of benign thyroid disease: review of 526 cases

Total thyroidectomy is not frequently performed in cases of benign disease because of the associated risk of postoperative hypoparathyroidism and recurrent laryngeal nerve (RLN) damage. We chose a series of patients who had undergone total thyroidectomy (TT) for benign thyroid tumors to evaluate the safety of this approach and its role in the treatment of nonmalignant lesions of the thyroid. We considered only patients with a minimum follow-up of 24 months. Records of 526 patients who underwent TT were carefully reviewed, assessing for perioperative complications and late sequelae. The mean age was 44 +/- 15.7 years; 109 patients (20.7%) were male and 417 (79.3%) were female. Altogether, 65 patients (12.3%) were operated on for toxic goiter, 429 (81.6%) for bilateral nodular goiter, and 32 (6.1%) for thyroiditis. Postoperative hemorrhage requiring reoperation occurred in 8 cases (1.5%). The incidences of permanent RLN palsy (considered as a percentage of the nerves at risk) and permanent hypocalcemia were 0.4% and 3.4%, respectively. A trend toward a decrease in the complication rate was observed during the last 5 years. There were no disease recurrences during a mean follow-up of 44 months. The results of our series show that TT can be performed safely in patients, with a low incidence of lifetime disabilities. TT has the advantage of reducing/avoiding the risk of disease recurrence and reoperation and should therefore be considered a valuable option for treating benign thyroid diseases.     

Plasma long-chain polyunsaturated fatty acids and neurodevelopment through the first 12 months of life in phenylketonuria

The aims of the study were to examine the relationship between long-chain polyunsaturated fatty acid (LCPUFA) status at diagnosis of phenylketonuria (PKU) and neurodevelopment through the first 12 months of life, and to assess whether any difference exists between infants breastfed and bottlefed in the first days of life on the basis of LCPUFA status. Twenty infants with PKU were prospectively examined through the first year of life. Plasma fatty acids were measured in infants at diagnosis. Plasma phenylalanine levels were determined monthly. Main outcome measures were the Bayley Mental Developmental Index (MDI) and Psychomotor Developmental Index (PDI) at 5 and 12 months of age, and the visual function at 12 months, evaluated by P100 wave latencies with visual evoked potentials. A higher PDI score was associated with higher plasma arachidonic acid at diagnosis (adjusted correlation coefficient of PDI at 5 months, r=0.38, p=0.05). P100 wave latency at 15 minutes of arc (15') was associated with the early plasma arachidonic acid (adjusted r=-0.56, p=0.02) and phenylalanine levels at 12 months (adjusted r=0.22, p=0.05). No association was found between MDI score and any essential fatty acids. Breastfed infants exhibited higher plasma arachidonic acid (mean difference, delta, =3.4%; 95% confidence interval [CI]=1.2-5.6%) and shorter P100 wave latency at 15' (delta=-21 ms, 95%CI=-30 to -12) than bottlefed infants. Within the population of this study, a weak positive association has been found between plasma LCPUFAs at diagnosis (higher in breastfed infants) and neurodevelopmental indices through the first year of life.     

Cardiovascular risk in hypertensive patients: results of the Pandora project

BACKGROUND: The aim of the Pandora project is to collect epidemiological information, check diagnostic and therapeutic pathways, and assess outcomes in a large hypertensive population. This report presents the results on patients enrolled in the study between 1997-1999. METHODS: Twenty-one general practitioners working in the Ravenna Local Health Service took part in the study. They were supplied with IBM compatible PCs and were trained to enter the patient's data (age, gender, familiarity for cardiovascular diseases, smoking, hospitalisations for cardiovascular disorders, diabetes, blood pressure, total cholesterolemia, creatininemia, antihypertensive therapy) on So.Ge.Pa. software. Cardiovascular risk factors were assessed according to the WHO - ISH joint committee recommendations. RESULTS: 2,608 treated hypertensive patients were enrolled, 65% of whom showed inadequate blood pressure control. The prevalence of inadequate BP control was higher in patients on multiple-drug antihypertensive therapy compared with those on monotherapy (71.9% vs. 47.9%), in older than in younger patients (70.7% vs. 56.1%) and in patients with three cardiovascular risk factors, or diabetes, or affected target organs, compared to those with two or less risk factors (72.4% vs. 63.3%), (p < 0.001 for all). 63.6% of patients were at risk for age, 36.6% for family history of cardiovascular diseases and 31.7% for severe hypercholesterolemia. CONCLUSIONS: BP control was inadequate in a large percentage of patients, but it was particularly unsatisfactory in the elderly and in patients with high cardiovascular risk. A cluster of cardiovascular risk factors was found in both adequately and inadequately controlled hypertensive patients.     

Fatty acid composition of plasma lipids in HIV-infected children. Comparison with seroreverters

Children infected with the type-1 human immunodeficiency virus (HIV) are at risk of nutritional deficiencies leading to an impaired polyunsaturated fatty acid (PUFA) status. The aim of the present study was to compare the PUFA composition of plasma lipid classes (total lipids, phospholipids (PL), cholesteryl esters (CE) and triglycerides) in well-growing HIV-infected children with an age-matched group of HIV-seroreverter children born to infected mothers. Eighteen HIV children, of both sexes, mean age 4.6 y, most of whom under combined antiretroviral regimen, were compared with 18 seroreverters, mean age 5.4 y, comparable for demographic, anthropometric and dietary characteristics. All children had adequate growth parameters (weight and height > 3rd percentile). The plasma fatty acid content was similar in the two groups. HIV seropositive subjects showed lower linoleic acid (LA) levels in all the plasma lipid fractions, with higher 20:3n-9 and 20:5n-3 levels in PL and CE. The plasma PL triene/tetraene ratio (marker of relative LA deficiency) related positively to the viral load and negatively to the blood CD4+ lymphocyte count. Compared to age-matched seroreverter subjects, HIV-seropositive children show a lipid fatty acid status suggestive of relative LA deficiency and increased turnover of the PUFA series.     

Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia

BACKGROUND: Children with phenylalanine-hydroxylase deficiency (type-I hyperphenylalaninemia, HPA) follow a low-phenylalanine diet, severely restricted in animal foods and long-chain polyunsaturated fatty acids (LCPUFA). Consequently, they have a poor LCPUFA status, particularly for docosahexaenoic acid (DHA). DHA is relevant to visual and neural development. OBJECTIVE: To investigate the effects of a 12-month supplementation with LCPUFA in a double-blind, placebo-controlled trial in treated children with HPA. STUDY DESIGN: Twenty children with well-controlled HPA were randomly allocated to receive either a fat supplement (supplying 26% as fatty acids including DHA, 8%) or a placebo. The fatty acid composition of erythrocyte lipids and the visual evoked potentials were measured at baseline and after 12 months of supplementation. Reference data were obtained from healthy children of comparable age. RESULTS: At baseline children with HPA had a poorer DHA status and prolonged P100 wave latencies than the reference group. At the end of the trial the LCPUFA group showed a significant increase in DHA levels of erythrocyte lipids. In the LCPUFA group P100 wave latency decreased and was negatively associated with the DHA changes. CONCLUSIONS: A balanced dietary supplementation with LCPUFA in children with HPA is associated with an increase of the DHA pool and improved visual function.