Transcriptome analysis of human primary endothelial cells (HUVEC) from umbilical cords of gestational diabetic mothers reveals candidate sites for an epigenetic modulation of specific gene expression.

Within the complex pathological picture associated to diabetes, high glucose (HG) has "per se" effects on cells and tissues that involve epigenetic reprogramming of gene expression. In fetal tissues, epigenetic changes occur genome-wide and are believed to induce specific long term effects. Human umbilical vein endothelial cells (HUVEC) obtained at delivery from gestational diabetic women were used to study the transcriptomic effects of chronic hyperglycemia in fetal vascular cells using Affymetrix microarrays. In spite of the small number of samples analyzed (n=6), genes related to insulin sensing and extracellular matrix reorganization were found significantly affected by HG. Quantitative PCR analysis of gene promoters identified a significant differential DNA methylation in TGFB2. Use of Ea.hy926 endothelial cells confirms data on HUVEC. Our study corroborates recent evidences suggesting that epigenetic reprogramming of gene expression occurs with persistent HG and provides a background for future investigations addressing genomic consequences of chronic HG.

Extracorporeal shock wave therapy for chronic calcific tendinitis of the shoulder: single blind study.

OBJECTIVE: To evaluate the clinical and radiological response of chronic calcific tendinitis of the shoulder to extracorporeal shock wave therapy (ESWT) in a single blind study. METHODS: 70 patients showing chronic, symptomatic, calcifying tendinitis of the shoulder were examined. A single blind randomised study was performed with 35 patients undergoing a regular treatment (group 1) and 35 a simulated one (group 2). Pain and functional assessment was carried out according to Constant and Murley. Variations in the dimension of the calcification were evaluated by anteroposterior x ray films. RESULTS: A significant decrease of pain and a significant increase in shoulder function was seen in group 1. Examination by x ray showed partial resorption of the calcium deposits in 40% of cases and complete resorption in 31% of cases in group 1. In the control group no significant decrease of pain and no significant increase in shoulder function was seen. No modifications were observed by x ray examination. CONCLUSION: Because of its good tolerance, safety, and clinical radiological response, ESWT can be considered as an alternative treatment for chronic calcific tendinitis of the shoulder.

Efficacy of extracorporeal shock wave treatment in calcaneal enthesophytosis.

OBJECTIVE: To evaluate the efficacy of extracorporeal shock wave treatment (ESWT) in calcaneal enthesophytosis. METHODS: 60 patients (43 women, 17 men) were examined who had talalgia associated with heel spur. A single blind randomised study was performed in which 30 patients underwent a regular treatment (group 1) and 30 a simulated one (shocks of 0 mJ/mm(2) energy were applied) (group 2). Variations in symptoms were evaluated by visual analogue scale (VAS). Variations in the dimension of enthesophytosis were evaluated by x ray examination. Variations in the grade of enthesitis were evaluated by sonography. RESULTS: A significant decrease of VAS was seen in group 1. Examination by x ray showed morphological modifications (reduction of the larger diameter >1 mm) of the enthesophytosis in nine (30%) patients. Sonography did not show significant changes in the grade of enthesitis just after the end of the treatment, but a significant reduction was seen after one month. In the control group no significant decrease of VAS was seen. No modification was observed by x ray examination or sonography. CONCLUSION: ESWT is safe and improves the symptoms of most patients with a painful heel, it can also structurally modify enthesophytosis, and reduce inflammatory oedema.

Novel X-linked mental retardation syndrome with short stature maps to Xq24.

We describe a large family from Sardinia, Italy, in which a novel X- linked mental retardation (XLMR) syndrome segregates. The phenotype observed in the 8 affected males includes severe mental retardation (MR), lack of speech, coarse face, distinctive skeletal features with short stature, brachydactyly of fingers and toes, small downslanting palpebral fissures, large bulbous nose, hypoplastic ear lobe and macrostomia. Carrier females are not mentally retarded, although some of them have mild dysmorphic features such as minor ear lobe abnormalities, as well as language and learning problems. Linkage analysis for X-chromosome markers resulted in a maximum lod score of 3.61 with marker DXS1001 in Xq24. Recombination observed with flanking markers identified a region of 16 cM for further study. None of the other XLMR syndromes known to map in the same region shows the same composite phenotype. This evidence strongly suggests that the genetic disease in this family is unique.

Rotator cuff tear associated with an acromioclavicular cyst in rheumatoid arthritis.

We report two cases of a full-thickness rotator cuff tear followed by acromioclavicular cyst formation in patients with longstanding erosive polyarticular rheumatoid arthritis. One of the consequences of a rotator cuff tear is articular instability with upward migration of the humeral head. The ensuing chronic friction against the undersurface of the acromioclavicular joint caused by arm movements can lead to a non-inflammatory effusion of the acromioclavicular joint with cyst formation. Clinical and ultrasonographic features and a pathogenetic hypothesis are discussed.

Tramadol in the fibromyalgia syndrome: a controlled clinical trial versus placebo.

This study assessed the analgesic action of tramadol compared with placebo in patients suffering from fibromyalgia syndrome. Twelve patients (11 females, one male) were treated according to a double-blind crossover experimental design. Each patient, after signing informed consent, was randomly allocated to either tramadol (100 mg ampul in 100 ml given intravenously in 15 min doses) or placebo for a single dose treatment. At the second visit, patients crossed over to the other drug for a further single dose treatment. There was a wash-out period of 1 week. Nine patients completed the study, while in three cases (two tramadol, one placebo) the study was discontinued due to the onset of side effects. The assessment of efficacy, carried out at the baseline and 15 min and 2 hours after administration of each dose, involved the use of a visual analog scale (VAS 100 mm) for spontaneous pain and pressure dolorimetry (kg/cm2) at 12 "symptomatic" tender points and nine "control" tender points for fibromyalgic pain. During the first treatment cycle effective control of spontaneous pain was achieved with tramadol, which determined a reduction of 20.6% while with the placebo spontaneous pain increased by 19.8%. With pressure dolorimetry there were no clinically important differences observed after either active treatment or placebo. The contrasting results found in the present study could be a stimulus for the organization of new projects, which may lead to the identification of an optimal therapeutic approach for fibromyalgic patients, also using tramadol for long periods.

Acute hyponatremia and neuroleptic malignant syndrome in Parkinson's disease.

1. The neuroleptic malignant syndrome (NMS) may occur, occasionally, in Parkinson's disease (PD) after withdrawal of antiparkinsonian drugs. However, the circumstances in which the NMS occurs and the pathophysiologic mechanisms remain uncertain. 2. The authors studied a woman with PD, who developed hyperthermia, increased muscular tone, tremor, signs of autonomic dysfunction and stupor as symptoms of acute hyponatremia due to gastrointestinal loss of sodium in excess of water. 3. The correction of hyponatremia led to a complete recovery after about 6 hours. During this period the antiparkinsonian therapy was not modified. 4. An acute imbalance of sodium in the central nervous system may play a role in the pathophysiology of NMS.

[The prevalence of the Wolff-Parkinson-White syndrome in a population of 116,542 young males]. / Prevalenza della sindrome di Wolff-Parkinson-White in una popolazione di 116.452 giovani maschi.

Since 1988 to 1992 we analyzed 116,452 consecutive 12-lead electrocardiograms belonging to the entire cohort of 18-year old young boys resident in Padova, Treviso, Rovigo, Venezia, Belluno area (2,834,000 inhabitants). We identified 173 cases of overt WPW pattern (short PR interval, delta wave, anomalous configuration of QRS complex) with a calculated incidence of 1.48/1000. Accessory pathway location was: left free wall (70 patients), right free wall (39 patients), postero-septal (37 patients), antero-septal (15 patients) and undetermined (12 patients). Sixty patients (34.6%) complained of different symptoms as palpitations, near syncope and dizziness. Fifty-three patients (30.6%) went in a regular sport activity. Twenty-four hour Holter monitoring (41 patients) and exercise stress test (43 patients) did not show sustained tachyarrhythmias; intermittent preexcitation was recorded in 23 and 32 patients, respectively. Two-dimensional echocardiogram (68 out of 173) was normal in 44 patients, while 24 showed minor cardiac abnormalities with two major disease; mitral valve prolapse was diagnosed in 8 patients. On the basis of transesophageal (24 patients) or intracardiac (5 patients) electrophysiologic study, 11 patients were considered at high risk for sudden death. Eight of them suffered from spontaneous symptoms.

Long latency evoked potentials in a case of corpus callosum agenesia.

Following monoaural stimulation, long latency auditory evoked potentials (LLAEPs) recorded from contralateral temporal areas have a shorter latency and larger amplitude than those recorded from the ipsilateral temporal areas. This observation agrees with the operational model drawn up in 1967 by Kimura, which assumes that only anatomically prevailing crossed auditory pathways are active during dichotic hearing, while direct pathways are inhibited. The inputs may then be conveyed to the contralateral cortex, from where they finally reach the ipsilateral temporal areas by means of interhemispheric commissures. It is this mechanism which may underline the right ear advantage for verbal stimuli and the left ear advantage for melodies observed when administering dichotic listening tasks. With the aim of verifying this hypothesis, we recorded temporal LLAEPs in a 21 year-old woman suffering from complex partial seizures, whose CT scan and MRI showed corpus callosum agenesia. Our data support the hypothesis that ipsilateral pathways are greatly inhibited by the contralateral pathways, and therefore auditory stimuli can be supposed to reach the contralateral auditory cortex from where they are transferred through the corpus callosum to the ipsilateral auditory cortex.

[Clinical and instrumental findings in cardiac amyloidosis]. / Contributi clinici e strumentali all'amiloidosi cardiaca.

The clinical findings of 2 male patients, aged 58 and 60 years with cardiac amyloidosis are described. Congestive heart failure was present in both. Electrocardiograms were abnormal in both cases. Echocardiographic examination showed increased myocardial echogenicity and ventricular hypertrophy, pericardial effusion and decreased ventricular function. Cardiac catheterization was performed in 1 patient. Rectal biopsies were obtained from both patients; endomyocardial biopsy was executed in only 1 patient; all specimens were positive. Our data demonstrate, in agreement with the literature, that clinical features of cardiac amyloidosis are polymorphous and therefore often unidentified.

Prognosis after therapy discontinuation in children with epilepsy.

Anticonvulsant therapy was stopped in 191 epileptic children (109 males and 82 females) after a seizure-free period of at least 2 years, independent of EEG findings, followed up for a minimum of 2 years after withdrawal. Overall, 43 (22.5%) had recurrence of seizures; of these, 79% relapsed within the 1st year after drug stopping and 93% within the 2nd year. The probability of remaining seizure free was 97% at the end of the withdrawal period, 82% 1 year later, 79% at 2 years and 77% at 5 years. In order to evaluate the risk of recurrence and the predictive factors of relapse, several parameters were investigated by univariate and multivariate statistical analysis. At univariate analysis, the factors which proved to be significantly correlated to relapses were: age at onset over 4 years, seizure-free time less than 2 years, sudden drug discontinuation, pathological EEG records during seizure-free time and paroxysmal responses to intermittent photic stimulation (IPS). At multivariate analysis, only age at onset, seizure-free time and sudden discontinuation were the factors indicating a significantly higher relapse risk; paroxysmal IPS responses, when analyzed in association with these variables, proved to be significant and increased the predictive value for prognosis of associated factors.

[Immune response in the course of Kaposi's sarcoma]. / Risposta immunitaria in corso di sarcoma di Kaposi.

9 patients with Kaposi's sarcoma, not treated with immunosuppressant drugs, were studied. In the Kaposi's disseminated form an impaired function of T mediated immunity (Leukocytes migration inhibition for PHA and PPD and skin test for DNCB) was found. The number of T lymphocytes (E rosettes) was normal. In the Kaposi's initial form with multiple dermal plaques and nodules, these alterations of cellular immunity were absent. In 4 patients elevated titles of Cytomegalovirus antibodies were found. The occurrence of an impairment of cellular immunity only in the serious and disseminated Kaposi's form is emphasized by the Authors.