Autonomic nervous system abnormalities in spinocerebellar ataxia type 2: a cardiovascular neurophysiologic study.

Autonomic nervous system dysfunction is part of the spinocerebellar ataxia (SCA) clinical picture, but few data are available on this topic. The present study is aimed to report a detailed investigation of autonomic nervous system in patients with molecular diagnosis of SCA type 2, one of the most frequent forms and the commonest in Italy. Nine patients with a mild to moderate form of SCA2 underwent a questionnaire about dysautonomic symptoms and a complete cardiovascular neurophysiologic evaluation of both sympathetic and parasympathetic system, comprising head-up tilt, standing, isometric hand grip, cold pressure, mental arithmetic, Valsalva manoeuvre, deep breathing, and hyperventilation tests.

[Radiation protection issues in brachytherapic treatment of prostatic cancer].

Brachytherapy is an effective radiotherapeutic treatment for localized prostatic cancer. The permanent brachytherapy is a particular kind of radiotherapy which, US guided, uses permanently implanted seeds containing radioactive sources (Pd103 or I 125). The procedure is minimally invasive and allows to obtain high percentage of success which is comparable to surgery.

[Occupational hazards in management of an experimental constructed wetlands].

The sewage from urban settlements is an important cause of water pollution. Recent Italian legislation offers new possibilities for intervention in the purification of wastewater. The "Decreto Legislativo" 152 of April 3, 2006, indicating "Environmental Standards", recommends the possible use of constructed wetlands considered particularly suitable for small and medium communities according to low operating costs, lack of energy, and manageability.

[Incidence of dysphonia in teaching staff of schools].

Some categories of workers (actors, teachers, singers) use a particular working tool: their voice. In order to assess the spread of dysphonia and its possible causes across a specific class of workers--the teachers of some schools in the city of Catania--we have set up a ad hoc questionnaire. A special database has been subsequently arranged, aimed at the statistical analysis of the responses obtained.

Concomitant activation of Wnt pathway and loss of mismatch repair function in human melanoma.

Constitutive activation of the Wnt pathway plays a key role in the development of colorectal cancer and has also been implicated in the pathogenesis of other malignancies. Deregulation of Wnt signaling mainly occurs through genetic alterations of APC, the beta-catenin gene (CTNNB1), AXIN1 and AXIN2, leading to stabilization of beta-catenin. Physiologically, AXIN2 is transcriptionally induced on Wnt signaling activation and acts as a negative feedback regulator of the pathway.

[Legislative evolution in matter of protection for disabled persons].

The authors examine the laws that aim to favour the integration of the disabled persons in the society, with particular refer to work and school, and that also aim to make easy the relationships for those who live with a disabled person. Even though the appreciation for the engagement of the legislator, they wish the development of the funds allocated to this purpose.

Association of suboptimal blood pressure control with body size and metabolic abnormalities.

Background: Blood pressure control is disappointingly suboptimal in populations. Whether metabolic abnormalities influence blood pressure control is unclear. We evaluated the relationship between metabolic risk factors and blood pressure control in a large population of patients with hypertension.

Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.

Background: Herlitz junctional epidermolysis bullosa (HJEB; MIM 226700) is a rare epithelial adhesion disorder caused by null mutations in any of the three genes encoding the alpha3, beta3 and gamma2 chains of laminin-5, and is mainly characterized by extensive mucocutaneous blistering, recurrent infections and early lethality.

Objectives: To perform immunoepitope mapping, electron microscopy and molecular analysis of five Italian patients with HJEB in order to complete the clinical and molecular characterization of patients with HJEB collected in the Italian Registry of hereditary epidermolysis bullosa (IRHEB) and to calculate the HJEB carrier frequency in this population.

Methods: Skin biopsies from perilesional skin of all patients were employed for immunoepitope mapping and electron microscopy examination.

[Usefulness of a telematic system and image analysis in the follow-up of high-risk patients: a new health service model].

Background: Inadequate blood pressure control in hypertensive patients is in contrast with the evidence from clinical studies of effectiveness of the same antihypertensive compounds used in clinical practice. These results may be due to follow-up management of hypertensive patients and in particular to the interaction between general practitioners (GPs) and hypertension specialists. The aim of this study was to assess the effectiveness of an internet-based digital network, connecting specialists and GPs in the Campania Region, on blood pressure control and major cardiovascular events.

Essential hypertension and chronic viral hepatitis.

Objective: Both arterial hypertension and chronic hepatitis are common disorders. The relationship between arterial pressure and liver cirrhosis has been extensively studied, but no studies are available in chronic hepatitis (CH). Recently, a few studies have reported that treatment with angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin-receptor blockers (ARBs), commonly used in arterial hypertension, reduce hepatic fibrosis in patients with viral CH and in nonalcoholic steatohepatitis.

Retrospective analysis of coagulation factor II receptor (F2R) sequence variation and coronary heart disease in hypertensive patients.

Objectives: The purpose of this study was to evaluate the role of genetic variants within the coagulation factor II receptor (F2R) in the occurrence of coronary heart disease (CHD).

Methods And Results: Four SNPs (-1738 G/A, 2860 G/A, 2930 T/C, and 9113 C/A) and an ins/del polymorphism -506-/GGCCGCGGGAAGC (D/I), replicating a consensus sequence for Ets-1 transcription factor, and their related haplotypes were tested for association to CHD in 1600 hypertensive patients divided in 2 groups according to presence (cases, n=559) and absence (controls, n=1041) of CHD. Allele I at -506 locus was associated with increased risk of CHD under additive, dominant, and recessive models of inheritance (all P<0.

Beta2-adrenergic receptor polymorphisms and treatment-induced regression of left ventricular hypertrophy in hypertension.

Objectives: Although blood pressure is considered the major determinant of left ventricular hypertrophy in hypertension, genetic variability is increasingly being considered among the factors influencing this complication. beta(2)-Adrenergic receptors (beta(2)ARs) are up-regulated in hypertension and largely polymorphic within the human population. Recently, we have shown that the Glu27 beta(2)AR variant is strongly associated with cardiac hypertrophy in hypertension.

Nitric oxide release is impaired in hypertensive individuals with familial history of stroke.

Background: A genetic origin of cerebrovascular accidents has long been suspected on the basis of epidemiologic evidence and familial aggregation. Nevertheless, the final phenotype is largely influenced by concomitant risk factors. We aimed to investigate whether impairment of endothelium-dependent vasodilation can be used as an informative intermediate vascular phenotype in hypertensive patients with familial history of stroke.

[Blood transfusion: history ethic and law].

The paper outlines the stages of the history of blood transfusion from the earlier attempts and difficulties to the important discoveries of the early XX century and to recent developments, that have made blood transfusion an easy life-saving method. The authors also examine the ethical motivations underlying transfusion refusal as well as the economical measures of solidarity contained in the Italian law n. 210/1992 to protect HIV HCV or HBV patients, especially those having contracted infection because of mandatory vaccinations or infected blood transfusions.

Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.

Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB-Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by severe itching and lichenoid or nodular prurigo-like lesions, mainly involving the extremities. Less than 30 patients have been described showing variable disease expression, and frequently, delayed age of onset. We report the clinical and molecular characterization of seven Italian DEB patients, three affected with recessive DEB-Pr and four with dominant DEB-Pr.

Increased melanoma growth and metastasis spreading in mice overexpressing placenta growth factor.

Placenta growth factor (PlGF), a member of the vascular endothelial growth factor family, plays an important role in adult pathological angiogenesis. To further investigate PlGF functions in tumor growth and metastasis formation, we used transgenic mice overexpressing PlGF in the skin under the control of the keratin 14 promoter. These animals showed a hypervascularized phenotype of the skin and increased levels of circulating PlGF with respect to their wild-type littermates.

An exaggerated systolic blood pressure response to exercise is associated with cardiovascular remodeling in subjects with prehypertension.

Background: Although many observers consider the cardiovascular risk associated with isolated prehypertension to be low and not worth pharmacological treating, the cardiovascular disease rate is increased among individuals within this blood pressure stratum.

Methods: We performed Doppler echocardiography and submaximal bicycle ergometry in 20 nonsmoking sedentary prehypertensive subjects and 20 age- and sex-matched nonsmoking sedentary normotensive subjects, and investigated the association between the systolic blood pressure response to exercise (SBPRE) and hypertensive target organ damage. An exaggerated SBPRE (E-SBPRE) and a normal SBPRE (N-SBPRE) were diagnosed using the mean +2 standard deviations of systolic blood pressure at 100 W in normotensives.

beta-Blockade and increased dyslipidemia in patients bearing Glu27 variant of beta2 adrenergic receptor gene.

In this study, the effects of polymorphisms of the beta(2) and beta(3) adrenergic receptor genes on the occurrence of dyslipidemia and diabetes mellitus in hypertensive patients treated with beta-blockers (atenolol or metoprolol) were evaluated. Patients who gave written informed consent were asked to return for blood sampling for estimation of serum glucose, total cholesterol, HDL, triglycerides and for genotype determination. Genotyping analysis was performed by PCR-RFLP assay.

The use of a telematic connection for the follow-up of hypertensive patients improves the cardiovascular prognosis.

Background: Inadequate blood pressure (BP) control could be due to incorrect management of hypertensives caused by the lack of interaction between general practitioners (GP) and hypertension specialists.

Objectives: To test the effectiveness on BP and total cardiovascular risk (TCVR) control of an internet-based digital network connecting specialists and GPs.

Methods: We created a network among the Hypertension Clinic, Federico II University (Naples, Italy), 23 hospital-based hypertension clinics and 60 GPs from the area (CampaniaSalute Network, CS).

Aldosterone synthase gene polymorphism, stroke volume and age-related changes in aortic pulse wave velocity in subjects with hypertension.

Purpose: In rats, chronic aldosterone administration with high diet intake increases aortic stiffness independent of mechanical stress. In hypertensive humans, enhanced plasma aldosterone and arterial stiffness are positively associated. Whether the aldosterone synthase gene polymorphism (ASGP) CYP11B2 influences the age-related changes in blood pressure (BP) and arterial stiffness in hypertensive subjects has never been investigated.

Impact of endoscopic intervention in 100 patients with suspected postcholecystectomy bile leak.

Background: Bile leak is a recognized complication of cholecystectomy. Endoscopic intervention is widely accepted as a treatment for this complication, but the optimal form is not well defined.

Methods: An ERCP database was reviewed retrospectively to identify all cases of bile leak related to cholecystectomy.

The many ways to myocardial perfusion imaging.

Myocardial perfusion imaging (MPI) is important for the management of patients with suspected or known coronary artery disease (CAD). Nuclear cardiology is the most widely used noninvasive approach for the assessment of myocardial perfusion. The available single-photon emission computed tomography (SPECT) flow agents are characterized by a rapid myocardial extraction and by a cardiac uptake proportional to blood flow.

Differential role of transcription-coupled repair in UVB-induced response of human fibroblasts and keratinocytes.

Most solar radiation-induced skin cancers arise in keratinocytes. In the human epidermis, protection against cancer is thought to be mediated mainly by nucleotide excision repair (NER) of UVB-induced cyclobutane pyrimidine dimers, and by elimination of the damaged cells by apoptosis. NER consists of two subpathways: global genome repair (GGR) and transcription-coupled repair (TCR).