Nodular area developed within a congenital melanocytic nevus: a malignant or benign entity?
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Aged↗
Biomedical subjects
A Borghi
Publications and source records attributed to A Borghi.
Low prevalence of twisted hair in anorexia nervosa.
In a series of 30 patients affected by severe anorexia nervosa (AN) we examined hair samples to detect the prevalence of acquired pili torti (APT). True APT were not detected but in two cases (6.6%) twisted hair was observed. The first case was a 24-year-old woman with secondary amenorrhoea for 9 years, whose body mass index (BMI) was 12.2 kg/m2. She also had severe skin xerosis and hypertrichosis. The second case was a 24-year-old woman with secondary amenorrhoea for 1 year, whose BMI was 11.3 kg/m2. She also had severe skin and lip xerosis, severe effluvium, cystic acne, acrocyanosis, perimylolysis (severe erosion of the dentition) and scars due to cigarette burns on her forearms. Reviewing the literature we noticed that the largest series of pili torti--congenital and acquired--were published by authors from countries such as Israel and Egypt. We therefore hypothesize that, under the same conditions, a genetic factor may predispose to this hair shaft defect.
Adolescent↗
Ofuji papulo-erythroderma: a reappraisal of the deck-chair sign.
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Aged↗
Body water distribution and disease.
The study of body water distribution between extra- and intra-cellular spaces has the potential to improve our knowledge on the mechanisms of disease. A major challenge is that of establishing whether commonly detected subclinical alterations of body water distribution have prognostic or clinical implications.
Body Water↗
Cutaneous infection caused by Salmonella typhi.
Salmonella typhi is a flagellated, gram-negative bacillus belonging to the family Enterobacteriaceae responsible for typhoid fever, which is a prolonged bacteraemic, systemic illness with minimal, at least initially, diarrhoea. Localized infection is a not uncommon complication of salmonella septicaemia, particularly occurring in immunocompromised patients. However, salmonella localization to the skin presenting as cutaneous ulceration is regarded as a rare event. We report a unique case of such a presentation as the sole clinical manifestation of infection with S. typhi and highlight the possible salmonella aetiology for unusual cutaneous lesions in individuals coming from endemic areas.
Adult↗
Fontan conversion to total cavopulmonary connection and arrhythmia ablation: clinical and functional results.
OBJECTIVES: To assess the early results of conversion from atriopulmonary to total cavopulmonary connection in patients with failing Fontan operation. DESIGN: Early clinical and instrumental evaluation of patients undergoing conversion from atriopulmonary to total cavopulmonary connection from April 1999 to November 2000. SETTING: Tertiary referral centre for congenital heart disease. PATIENTS: 11 Fontan patients (mean (SD) age 20.9 (6.7) years) with refractory arrhythmias or ventricular dysfunction. INTERVENTIONS: Total cavopulmonary connection, intraoperative ablation, and AAIR pacemaker implantation. MAIN OUTCOME MEASURES: Holter monitoring, transoesophageal atrial stimulation, ergometric test, and myocardial scintigraphy at a mean (SD) follow up of 16.8 (5.6) months. RESULTS: One early postoperative death occurred. During follow up three patients had relapse of atrial tachycardia, controlled by medical treatment, and two were pacemaker dependent. Transoesophageal stimulation did not induce atrial tachycardia in any patient. Ergometric test showed a diminished exercise tolerance in all but one patient. Mean minute ventilation and maximum oxygen consumption were 62% and 40% of their respective predicted values. Myocardial scintigraphy showed reversal of rest or exercise dysfunction in five patients and improved systemic ventricular function in seven. Mean basal ejection fraction increased from 39.4% (95% confidence interval (CI) 32% to 46%) to 46.5% (95% CI 41.7% to 51.2%) and ejection fraction on effort from 42.3% (95% CI 33.9% to 50.7%) to 50.2% (95% CI 44.5% to 55.9%). CONCLUSIONS: Our data show that total cavopulmonary connection associated with intraoperative ablation and pacemaker implantation allows for better control of arrhythmias and improves ventricular function in the majority of patients with failing Fontan.
Adolescent↗
Regression of pulmonary fistulas in congenital heart disease after redirection of hepatic venous flow to the lungs.
Although the etiology of pulmonary fistulas in congenital heart disease remains unknown, several hemodynamic factors are thought to play a role. Recently it was postulated that hepatic venous effluent might protect the pulmonary bed from development of pulmonary fistulas. However, there are no experimental data supporting this hypothesis. Here, we present the cases of 2 patients in whom pulmonary fistulas developed after unintentional surgical exclusion of the hepatic venous flow from the pulmonary circulation. In both patients, symptoms resolved after rerouting of the hepatic venous blood to the lungs.
Arteriovenous Fistula↗
Is body mass index a measure of adiposity in elderly women?
OBJECTIVE: To evaluate the accuracy of body mass index (BMI) as a predictor of body fat in elderly women. RESEARCH METHODS AND PROCEDURES: A total of 1423 women aged 67 +/- 5 (mean +/- SD, range: 60 to 88) years were consecutively enrolled into the study. Fat mass (FM) was measured using DXA. RESULTS: BMI explained 72.9% of FM variance (p < 0.0001), with a root mean square error of estimate (RMSE) of 3.5 kg. After standardization of RMSE on the dependent variable as RMSE%, the prediction error equaled 15%. BMI explained 54.8% of FM% variance (p < 0.0001), with an RMSE of 4.1%, corresponding to an RMSE% of 11%. DISCUSSION: The relatively high RMSE% of the FM and FM%-BMI associations caution against the use of BMI as an adiposity index in individual elderly women. However, an error corresponding to 11% of FM% may be accepted for population studies of body fat in elderly women.
Absorptiometry, Photon↗
A rare form of interrupted aortic arch.
We report the case of a newborn with DiGeorge syndrome and aortic atresia associated with a complex anomaly of the aortic arch, interpreted as interrupted aortic arch type C, a persistent right ventral aorta and an aberrant right innominate artery. At 8 months the child underwent Norwood palliation with interposition of an 8 mm PTFE tube between the pulmonary trunk and the descending aorta and of a 3.5 mm shunt between the junction of the right ventral aorta to the left carotid artery and the right pulmonary artery. At 11 months he had substitution of the PTFE tube and bidirectional cavopulmonary anastomosis; he is now waiting for biventricular correction.
Abnormalities, Multiple↗
Effect of liver transplantation on neurological manifestations in Wilson disease.
BACKGROUND: Liver transplantation (LT) is the sole resolutive therapy for Wilson disease (WD) and is the treatment of choice for patients with WD who have fulminant hepatic failure or end-stage cirrhosis. Although its role in managing the neurological manifestations of WD is not yet conclusive, LT has recently been advocated as a therapy for neurologically affected patients with WD with stable liver function. OBJECTIVE: To evaluate the effect of LT on the neurological manifestations of WD. OBSERVATION: A 44-year-old man with WD with cirrhosis and neurological symptoms (motor dysfunction and cognitive impairment) experienced a dramatic improvement in motor function early after LT, as well as normalization of copper balance and the disappearance of Kayser-Fleischer rings. Abnormalities seen on magnetic resonance imaging scans were reversed 18 months after LT. Cognitive testing 2 years after LT showed a moderate global improvement. CONCLUSIONS: In this case, LT healed the neurological manifestations of WD. To date, this favorable result has been seen in almost 80% of cases. However, the decision to perform LT in patients with WD solely on the basis of neurological impairment must be considered experimental.
Adult↗
Influence of body composition on bone mineral content in elderly women. A preliminary report.
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Absorptiometry, Photon↗
Persistence of the left superior caval vein: can it potentiate obstructive lesions of the left ventricle?
Recent evidence has suggested that persistence of the left superior caval vein is associated with a high incidence of obstructive lesions of the left heart. To shed more light on this issue 1085 patients with congenital heart disease were studied retrospectively, with the aim of estimating the prevalence of a persistent left superior caval vein and its associated anomalies, focusing attention on obstructive lesions in the left and right ventricles. Patients with isomerism of the atrial appendages, or hypoplastic left heart syndrome, were excluded. A persisting left superior caval vein was present in 57 patients (5.2%). The overall incidence of obstructive lesions of the left heart was higher in patients with than in those without a persistent left superior caval vein (31.6 versus 7.8%,p < 0.001). Relative hypoplasia of the left ventricle was also higher in patients with persistent left superior caval vein (14 versus 0.8%, p < 0.001). The obstructive lesions found in the left heart, compared with the number in those without a left caval vein, were: mitral stenosis, 5.2 versus 0.7%; subaortic stenosis, 5.3 versus 0.9%; aortic coarctation, 17.5 versus 5.8% (p < 0.01); all of these in association, 3.5 versus 0.4%. In contrast, the incidence of obstructive lesions of the right heart was similar in the two groups of patients. It is concluded that persistence of the left superior caval vein can perturb the normal development of the left ventricle, being strongly associated with obstructions to left ventricular inflow and outflow.
Aortic Coarctation↗
Aortic balloon dilatation for congenital aortic stenosis: report of 90 cases (1986-98).
OBJECTIVE: To review 12 years of experience of balloon aortic valvoplasty in childhood. DESIGN: Early and mid-term clinical and instrumental evaluation of 104 consecutive balloon aortic valvoplasties performed from 1986 to 1998. SETTING: A tertiary referral centre for congenital heart disease. PATIENTS: 90 patients with congenital aortic stenosis: 20 neonates (group 1), 16 infants (group 2), and 54 children (group 3). INTERVENTIONS: Balloon aortic valvotomy. MAIN OUTCOME MEASURES: Doppler and peak to peak aortic gradient before and after valvoplasty, degree of aortic regurgitation before and after valvoplasty, early and late mortality, need for repeat intervention or surgery. RESULTS: Balloon aortic valvoplasty produced a gradient reduction of > 50% in 59 patients, 12 having a residual peak to peak gradient of > 50 mm Hg. Early mortality included three procedure related and six procedure unrelated deaths. There were no intraprocedural deaths. Grade III aortic regurgitation occurred in 20 patients. Five non-lethal complications occurred. At a mean follow up of 5.1 (group 1), 5.7 (group 2), and 7.6 years (group 3), survival was 75%, 88%, and 96%, respectively. Redilatation was performed in three patients in group 1, one in group 2, and 10 in group 3. Surgery was necessary for six in group 1, one in group 2, and eight in group 3. Freedom from events at last follow up was 50%, 75%, and 64%, respectively. There was a residual maximum Doppler gradient of < 30 mm Hg in 22 patients and > 60 mm Hg in 23; 50 patients have mild to moderate aortic regurgitation. CONCLUSIONS: Balloon aortic valvoplasty is effective and repeatable and offers good palliation for congenital aortic stenosis in childhood.
Adolescent↗
[Effects of reperfusion and coronary reocclusion on the variability of heart rate in patients with acute myocardial infarction].
The aim of this study was to analyze the very early (first 24 hours) effect of successful or failed thrombolytic therapy on the autonomic nervous system. Thirty consecutive patients with a first acute myocardial infarction were enrolled in the study, and admitted to the Coronary Care Unit within 6 hours of the onset of symptoms and treated with systemic thrombolytic therapy. All patients underwent 24-hour Holter monitoring in order to analyze ST segment variation. The autonomic nervous system was evaluated by frequency-domain heart rate variability: low frequency/high frequency ratio (LF/HF) was measured at the beginning of Holter monitoring (T1), 15 min after reperfusion or 1 hour from the start of thrombolytic therapy (T2) and after 24 hours (T3). Reperfusion status was assessed by a > or = 50% reduction in ST segment elevation within 90 min of thrombolytic therapy, and early CK-MB peak. Early coronary reocclusion was detected by early reduction in ST segment elevation followed by stable ST segment re-elevation. Twenty patients (66%) showed successful thrombolytic therapy (Group 1), 5 patients (17%) had no evidence of successful thrombolytic therapy (Group 2) and 5 patients (17%) showed an early reocclusion (Group 3). LF/HF ratio values at T1 were similar in the three groups (5.66 +/- 1.7 vs 5.65 +/- 1.2 vs 5.51 +/- 0.9, NS). At T2, LF/HF ratio was significantly higher in Group 1 and 3 than Group 2 patients (9.21 +/- 1.7 and 11.1 +/- 1.2 vs 5.58 +/- 1.4, respectively, p < 0.001). In Group 1 LF/HF ratio was significantly lower at T3 when compared with T1 and T2 (1.9 +/- 1 vs 5.66 +/- 1.7 and 9.21 +/- 1.7, respectively, p < 0.001). Conversely, in Group 3 LF/HF ratio at T3 was similar to values measured at T1 (5.59 +/- 1.7 vs 5.51 +/- 0.9, respectively, NS) and significantly higher than those detected in Group 1. In Group 2, LF/HF ratio resulted substantially unchanged at T3 (5.49 +/- 1.7, NS). In conclusion, 1) successful thrombolytic therapy induces early beneficial effects on the autonomic nervous system function, as shown by increased heart rate variability values, when compared with failed thrombolytic therapy; 2) however, during the early period following coronary reperfusion, a transient but dramatic increase in sympathetic activity is observed. This could trigger coronary flow instability, thus facilitating reocclusion, by activating different pathogenetic mechanisms (increased vascular tone, platelet activation, thrombogenic factor prevalence); 3) early coronary vessel reocclusion precludes favorable effects of reperfusion on sympatho-vagal balance observed after the first 24 hours.
Aged↗
Thrombosis of a mitral valve prosthesis resulting from Staphylococcus epidermidis endocarditis.
A 70-year-old man with a Duromedics mitral valve prosthesis had two episodes of infective endocarditis caused by enterococcus (1994 and 1996). Colonoscopy revealed five polyps. Surgical resection was performed and 2 days later the patient had dyspnea and fever. Because of a suspected valve thrombosis, intravenous heparin was given which resulted in hematic effusion in the Douglas' cul-de-sac. Intravenous heparin was withdrawn but the patient continued to have a worsening dyspnea, hyperthermia and hypotension. The patient was transferred to our Institution in cardiogenic shock. Acute thrombosis of the valve was diagnosed by echocardiography, and the patient died before transesophageal Doppler echocardiography was performed. Post mortem examination revealed mitral valve infective thrombosis. In patients with valvular prostheses, endocarditis is an added thromboembolic risk.
Acute Disease↗
Hepatic tocopherol content in primary hepatocellular carcinoma and liver metastases.
The high incidence of hepatocellular carcinoma (HCC) in cirrhosis, where previous studies have indicated a severe reduction in several antioxidant vitamin factors, prompted us to compare plasma liposoluble vitamins with tocopherol content in healthy and neoplastic liver tissue in humans. This, with a view to a more positive preventive dietary approach, given the conflicting results obtained by liposoluble vitamin dietary supplementation in different malignancies. Eleven patients with cirrhosis, 18 patients affected by cirrhosis with HCC, and 10 patients with liver metastases (LM) from digestive tract adenocarcinomas were compared with controls who had undergone perlaparoscopic cholecistectomy. Plasma alpha- and beta-carotene, retinol and tocopherol, together with liver tocopherol, from both nonmalignant portions and malignant nodules of the same organ, were determined by high-performance liquid chromatography following a well-assessed technique. The results confirm a trend towards a reduction in circulating carotenoids and tocopherol in cirrhosis and in patients affected by cirrhosis with HCC. Tocopherol content in liver tissue is significantly decreased in cirrhosis (0.26 + 0.03 micromol/g prot., mean + SEM, P < .001) and in cirrhotic areas of the HCC group (0.31 + 0.02, P < .002), with respect to its content in liver specimens of healthy controls (0.46 + 0.03) and in healthy areas of the same organ in patients with LM (0.41 + 0.03). Tocopherol concentration is further reduced by 50% in malignant liver nodules of HCC, with respect to surrounding cirrhotic tissue, whereas in metastatic liver nodules from digestive neoplasms the tocopherol content is almost twice that of healthy surrounding areas. This unpredictable tocopherol behavior in liver specimens, of secondary as opposed to primary malignancies of the liver, affords further insight into the conflicting effects of liposoluble vitamins employed in the chemopreventive treatment of different malignant diseases, where hepatic tocopherol concentration show opposite trends: halved in primary HCC and doubled in LM of digestive adenocarcinomas, with respect to healthy controls.
Aged↗
Novel teicoplanins by directed biosynthesis.
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Actinomycetales↗
Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance.
Congenital bicuspid aortic valve (BAV) is one of the most frequent heart defects detected by echocardiographic investigation and necropsy (0.9-1% of the general population), but only 16 families with familial congenital BAV have been described up to now. We report on a family in which 4 members of two generations (2 brothers, 1 sister, and her son) are affected with BAV. The BAV mode of inheritance is discussed.
Adult↗