Death occurred due to undiagnosed systemic amyloidosis: a case report.

Abstract: Amyloidosis is a disorder related to errors in protein folding. We present a clinical case of systemic amyloidosis manifesting as hypotension, tachycardia, pain, weight loss, asthenia, anorexia, dysphagia, and mood deflection in a 49-year-old-year-old woman with a previous clinical history of articular and muscular pain, correlated to suspected seronegative arthritis. The blood test revealed kidney insufficiency, an electrocardiogram identified low voltages of the peripheral leads and T waves anomalies. A serum protein electrophoresis revealed the presence of high levels of monoclonal kappa free chains. The woman started to have a sense of suffocation, and after one week she was found dead in her bed. After the autopsy, the results of Congo red staining of the myocardium were characteristic of amyloid. According to the autoptic and the histological examination, death occurred due to acute cardiac and respiratory arrest secondary to amyloid cardiomyopathy in a patient with undiagnosed systemic amyloidosis.

[Risk of recurrence following partial thyroidectomy for benign lesions. Report of 58 patients 15-25 years after surgery]. / Il rischio di recidiva dopo tiroidectomia parziale per lesione benigna. Indagine condotta su 58 pazienti 15-25 anni dopo l'intervento.

BACKGROUND: Since the 1980's, thanks to the introduction of new techniques and methods for the study of thyroid function, new light has been shed on certain aspects of thyroid disease that constitute the basis for surgical therapy. Multinodular goiter is a disorder affecting the entire gland, even when alterations mostly or exclusively involve a single lobe. The functional deficit resulting from partial or subtotal resection has a hypertophic/hyperplastic effect on the remaining parenchyma. Partial resections often lead to postoperative hypothyroidism, usually of a subclinical nature, which implies difficult management by means of replacement therapy. METHODS: The authors report a series of 58 patients who underwent partial thyroidectomy to treat benign thyroid disease at the 2nd Surgical Department of the University of Florence during the period 1975-1985. RESULTS: Of these patients, operated on more than 15 years ago, 36.2% - the majority of whom (87.5%) have constantly been on substitutive therapy using L-thyroxin - currently shows no alteration of the remaining parenchyma. Conversely, in 60.3% of the patients there was evidence of nodular/pseudonodular alterations; in this group, only 40% of the patients were on substitutive therapy. There seems to be no doubt that, with few exceptions, disease involving an apparently circumscribed area of the thyroid in reality affects the entire parenchyma. CONCLUSIONS: Total thyroidectomy, therefore, represents the most appropriate treatment for multinodular goiter, even when the disease is limited to one lobe, thereby providing a cure for the disease and at the same time a state of euthyroidism easily achieved with the proper therapy.

Genomic structure and ecdysone regulation of the prophenoloxidase 1 gene in the malaria vector Anopheles gambiae.

Prophenoloxidase, a melanin-synthesizing enzyme, is considered to be an important arthropod immune protein. In mosquitoes, prophenoloxidase has been shown to be involved in refractory mechanisms against malaria parasites. In our study we used Anopheles gambiae, the most important human malaria vector, to characterize the first arthropod prophenoloxidase gene at the genomic level. The complete nucleotide sequence, including the immediate 5' flanking sequence (-855 bp) of the prophenoloxidase 1 gene, was determined. The gene spans 10 kb and is composed of five exons and four introns coding for a 2.5-kb mRNA. In the 5' flanking sequence, we found several putative regulatory motifs, two of which were identified as ecdysteroid regulatory elements. Electrophoretic mobility gel-shift assays and supershift assays demonstrated that the Aedes aegypti ecdysone receptor/Ultraspiracle nuclear receptor complex, and, seemingly, the endogenous Anopheles gambiae nuclear receptor complex, was able to bind one of the ecdysteroid response elements. Furthermore, 20-hydroxyecdysone stimulation was shown to up-regulate the transcription of the prophenoloxidase 1 gene in an A. gambiae cell line.

[Should the patient with an interatrial defect recognized in adulthood always be operated on?]. / Il paziente con difetto interatriale riconosciuto in età adulta deve essere sempre operato?

BACKGROUND: Atrial septal defect (ASD) can be recognized in adult age, mostly in asymptomatic or scarcely symptomatic patients. These patients differ from patients in "historical" clinical series, in whom diagnosis was done on the basis of clinical evidence, and their natural history is probably different. AIM OF THE STUDY: Our aim was to verify retrospectively results of surgery versus medical follow-up in an adult population with ASD with age at first diagnosis > or = 30 years. PATIENTS AND METHODS: Seventy-two patients with ASD, 52 females (72%), observed at our Institution since 1978, were considered. Mean age at diagnosis was 48 +/- 12 years (range 30-79); 36 patients (50%, group A) are still on medical therapy, 36 patients (group B) were operated. As groups A and B did not differ significantly in any demographic, clinical or echocardiographic parameter, they were compared for the incidence of complications. RESULTS: During follow-up (100 +/- 70 months, range 12-240), the incidence of major clinical events showed no significant differences in the two groups, as cardiac death or cardiovascular complications (cerebral ischemic events, severe mitral insufficiency, reoperation) occurred in 4 patients in group A (11%) and in 4 patients in group B (11%). Worsening of NYHA class was observed in 3 patients from group A (8%) and 2 patients from group B (5.5%; p = ns). New onset of supraventricular arrhythmias occurred more frequently in group B (14 patients, 39%) than in group A (5 patients, 14%) (p = 0.01; OR = 3.9; CI 95%: 1.2-12.6). CONCLUSIONS: In an adult population affected with asymptomatic or mildly symptomatic ASD and age at first diagnosis > or = 30 years, surgical closure of the defect did not modify morbidity and mortality at a mid-term follow-up. We suggest that, mostly in older asymptomatic patients, surgery should not be a routine choice and clinical decision-making should be individualized in each case.

FST, a female-specific transcript from the medfly Ceratitis capitata (Diptera: Tephritidae).

We report here the sequence of a novel cDNA clone (FST, female-specific transcript), isolated by differential screening during a search for sexually mature accessory gland-specific transcripts from the medfly Ceratitis capitata. It contains an open reading frame (ORF) with a potential translational start site encoding a putative precursor peptide of 100 amino acids. The FST gene is expressed only in the female reproductive accessory glands. Like the accessory gland-specific antibacterial peptides ceratotoxins, its expression reaches the maximum level when sexual maturity is achieved. However, in contrast to ceratotoxins, it is expressed at a basal level in newly emerged females, and its expression does not increase after mating.

[The prevalence and characteristics of persistent pulmonary hypertension of the newborn. A multicenter study. The Study Group of the Società Italiana di Cardiologia Pediatrica (SICP)]. / Prevalenza e caratteristiche della ipertensione polmonare persistente del neonato. Studio multicentrico. Gruppo di Studio della Società Italiana di Cardiologia Pediatrica (SICP).

BACKGROUND: Persistent pulmonary hypertension of the newborn (PPHN) is a rare syndrome with a severe prognosis, in which a prompt diagnosis can be life-saving. The aim of our study was to verify its prevalence in a neonatal population, define clinical and echocardiographic criteria for the diagnosis of PPHN and discuss therapeutic choices. METHODS: The following clinical and echocardiographic criteria for the diagnosis of PPHN were defined: 1. cyanosis and hypoxemia non-responsive to O2 therapy; 2. right to left shunt at an atrial or ductal level. All neonates fulfilling these criteria referred to the neonatal units of seven pediatric or general hospitals over a two-year period were enrolled. RESULTS: From January 1995 to December 1996, thirty neonates with PPHN (8%) were observed. Birth was pre-term in 5 out of 30. Ten (33%) had experienced chronic and/or fetal asphyxia (FA). Death occurred in 7 (22%), four of whom with FA. Echocardiography showed tricuspid insufficiency in 18 (60%); mean pulmonary systolic pressure was 67 +/- 16 mmHg (range 41-95). In 23 surviving neonates, normalization of clinical and echocardiographic parameters occurred in 8 +/- 5 days. THERAPY: In most neonates, vasodilators (tolazoline, prostacyclin) and/or nitric oxide were employed. CONCLUSIONS: PPHN is confirmed to be a rare pathological condition; prognosis is severe, particularly in neonates with FA. Echocardiography is a reliable non-invasive method for a prompt diagnosis and follow-up. Subsequent studies are needed to assess therapeutic choices.

[Insertion and management of long-term central venous devices: role of radiologic imaging techniques]. / Posizionamento e gestione dei sistemi per accesso venoso centrale a lungo termine: contributo della diagnostica per immagini.

INTRODUCTION: Anticancer chemotherapy causes irreversible damage to the endothelial wall of small vessels. This is the reason why long-term (more than 3 months) central venous devices are essential to administer chemotherapy drugs to cancer patients and antibiotics for chronic or severe infections and in patients requiring long-term parenteral nutrition. We report our experience with the percutaneous implantation of central venous devices in a radiology department. MATERIAL AND METHODS: March, 1993, to August, 1997, eighty-seven consecutive patients (26 men and 61 women, mean age: 55 years) were examined. The indications for central venous catheter placement included anticancer chemotherapy in 82 cancer patients, repeated blood transfusion in one patient with bone marrow aplasia and nutritional support in four cancer patients. Eighty-four central venous devices (75 totally subcutaneous systems--Port-a-cath Dome--, and 9 partially tunneled catheters--Groshong) were inserted. The average follow-up was 6.5 months (range: 1-18). All procedures were performed in the radiology department and venous access was achieved with fluoroscopy using the Seldinger technique. Chest radiography with the patient standing was routinely performed after the procedure and repeated the day after to assess the catheter position and the presence of pneumothorax. The venous catheters were placed in the subclavian vein in 68 cases (12 in the right side and 56 in the left side), internal jugular vein in 12 cases (9 in the right side and 3 in the left side) and right femoral vein in 4 cases. We prefer the subclavian vein (80.9%) for better cosmetic results, wider catheter angulation and easier fixation to the deep plane. RESULTS: The first access failed in 6 cases (6.8%). A pneumothorax occurred in 4 patients (4.7%) and late complications were seen in 15 patients (17.8%) after a mean of 15.7 weeks (range: 2-48). Catheter-related infections developed in 6 patients (7.1%) after a mean of 20 weeks (range: 5-48). The microorganisms cultured from these catheters was the Staphylococcus epidermidis. After two weeks' specific antibiotic therapy, all the devices were removed. Deep venous thrombosis occurred only in one patient after 10 months and was successfully treated with direct thrombolytic infusion. The catheter was displaced in the right atrium in two patients after 11 and 12 weeks, respectively: both catheters were removed by transfemoral catheterization. CONCLUSIONS: The percutaneous implantation of--long-term central venous devices is a safe and tolerable procedure. In our experience, the radiology-assisted placement of these devices offers many advantages over surgical implantation. In particular, fluoroscopy allows direct visualization of the catheter position while insertion and positioning are essentially "blind" at surgery, which complicates venous access and increases the risk of catheter malpositioning. Radiologic follow-up is also useful to depict and correct complications.

[Long-term follow-up on ventricular pre-excitation in pediatric age]. / Follow-up a lungo termine della preeccitazione ventricolare in età pediatrica.

AIM: Little is known yet about the clinical aspects of ventricular pre-excitation in pediatric age. In order to define clinical course, assess the risk of malignant arrhythmia and evaluate indications for ablative therapy, we studied 82 consecutive pediatric patients (pts) with this affection (61 males-21 females; mean age at diagnosis 5.1 years, range 1 day-15 years). RESULTS: Mean follow-up time was 66 months (range 3-252). Fifty-six pts (68.3%) were asymptomatic. One patient, who was affected with hypertrophic cardiomyopathy and died suddenly when she was 2 while her cardiac rhythm was being monitored, had an EKG pattern of asystolia. In 28 pts (19 m - 9 f, 34.1%), episodes of reentrant atrio-ventricular tachycardia, ranging from 160 to 320 beats/minute, were documented. Five pts, four of whom were less than 1 year old, had syncope or cardiac failure due to tachyarrhythmia. As far as maximum incidence of symptoms is concerned, two peaks were observed: within the first year and between 14 and 16 years of age. A transesophageal electrophysiologic study was performed in 22 pts, tachyarrhythmias were induced in 15, and risk criteria were satisfied in 3/22 (13.6%). Five pts underwent catheter ablation of an accessory pathway and this was successful in three of them. CONCLUSIONS: The clinical course in this series of patients has been benign. Nevertheless, during the first year of life cardiac failure or syncope may occur because of high heart rates. The transesophageal electrophysiologic study, which is also easy to perform in pediatric patients, has been sensitive in assessing the risk of malignant arrhythmia, but it shows low predictive accuracy. Lastly, ablative therapy has shown lower efficacy in children than in adult patients.

[Role of axillary dissection in breast carcinoma]. / Ruolo della dissezione ascellare nel carcinoma mammario.

Between 1986 and 1995, 965 patients with T1 breast cancer were treated with wide excision (796 pts) or mastectomy (138 pts). Axillary dissection was performed in 934 patients. Nodal positivity was 8.7% for T1a, 15.6% for T1b and 37.7% for T1c. 68.5% of cases had one to three positive nodes, 18.3% four to ten and 13% more than ten nodes. No differences were observed in the frequency of lymph nodes involved according to the age of patients, menopausal status, pattern at mammography, histology and receptor status. Favourable histology (tubular, cribriform, papillary, colloid) shows a significant difference when compared with all the others histotypes. On the basis of data collected it is impossible to anticipate the axillary status and avoid axillary dissection.

[Generalized lymphangiomatosis with chylopericardium]. / Linfoangiomatosi generalizzata con chilopericardio.

A case of a child with lymphangiomatosis and chylopericardium is reported. Diagnosis of chylopericardium was performed at 11 months with ascendant lymphography which evidenced thoracic duct agenesia. At the age of 3 years he underwent operation of pleuro pericardial window. He was also treated with low fat medium chain triglyceride diet, and temporary clinical improvement occurred. The patient died at 13 years of age because of extensive lymphangiomatosis to abdomen, lungs and bones.

[The usefulness of Doppler echocardiography in the diagnosis of neonatal Marfan's syndrome. A clinical case report]. / Utilità dell'ecocardiografia Doppler nella diagnosi di sindrome di Marfan neonatale. Descrizione di un caso clinico.

Marfan syndrome is very rarely diagnosed in the neonate, and specific pathological and clinical findings are described in this age; cardiac involvement occurs very often, carrying severe prognosis in most patients. In the presented case the diagnosis was suspected according to clinical findings; bidimensional echocardiography showed that the most important lesion was tricuspid dysplasia and prolapse; Doppler echocardiography has contributed to explain the clinical severity, showing regurgitation of all cardiac valves and a pattern of functional tricuspid atresia. Autoptic examination has later confirmed all these findings.

[Echocardiographic study of heart rhabdomyoma in tuberous sclerosis]. / Studio ecocardiografico del rabdomioma cardiaco nella sclerosi tuberosa.

In order to study the prevalence of cardiac rhabdomyoma in tuberous sclerosis using non invasive methods, 11 consecutive patients affected by tuberous sclerosis (age: 3 months-22 years, mean 6 years) were examined between January 1984 and April 1987. In each patient clinical examination, 12 lead electrocardiogram, M-mode and two-dimensional echocardiogram were performed: on 7 of them a 24-hour ambulatory electrocardiogram was also performed. Clinical examination revealed a systolic murmur (grade 3/6) in two cases. In one of them it was associated with cyanosis and cardiac failure. None of other patients showed signs or symptoms related to the heart during clinical examination. ECG was abnormal in 3 cases (ventricular pre-excitation in 2 cases and left ventricular strain in 1). Two-dimensional echocardiogram showed single or multiple intracardiac masses suggestive of cardiac rhabdomyoma in 8 cases; in 3 of them masses were isolated, intramural, and in the interventricular septum, from 5 to 16 mm in diameter; in the other 5 cases they were multiple, intramural and endoluminal, in the interventricular septum, in the right or left ventricle, from 7 to 20 mm in diameter. Ambulatory electrocardiogram revealed only isolated ectopic supraventricular and ventricular beats in 2/7 cases. Each patient was clinically controlled every six months using ECG standard and two-dimensional echocardiogram. The mean follow-up period was 32 months (range 9-53). This study confirms the usefulness of the two-dimensional echocardiography to visualize intramural or intracavitary masses due to cardiac rhabdomyoma in patients with tuberous sclerosis, especially when they appear clinically asymptomatic. Two-dimensional echocardiography is probably the ideal method to use in order to evaluate potential increase in cardiac rhabdomyoma, when prolonged follow-up studies are performed.

Transient asymmetric ventricular septal hypertrophy in the newborn unassociated with maternal diabetes.

Severe hypertrophy of the interventricular septum was found by echocardiography in a 15 day old infant without symptoms whose mother was not diabetic. The electrocardiogram showed pronounced intraventricular conduction disturbances. Both echocardiographic and electrocardiographic findings showed no abnormality after 27 months, the explanation for which could be the spontaneous regression of an intracardiac rhabdomyoma.