Current structure and organization for renal patient assistance in Italy

Background. Given the public health challenge and burden ofchronic kidney disease, the Italian Society of Nephrology (SIN)has compiled a national census of Renal Units (RU) existingin the twenty Italian regions related to the year 2004. Methods. An on-line questionnaire including 158 items exploredstructural and human resources, organization aspects, activitiesand epidemiological data in SIN, 2004. Results. The census identified 363 public RU, 303 satelliteDialysis Centres (DC) and 295 private DC totalling 961 DC [16.4per million population (pmp)]. The inpatient renal beds were2742 (47 pmp). Renal and dialysis activity was performed by3728 physicians (64 pmp), of whom 2964 (80%) were nephrologists.There was no permanent medical assistance in 41% of satelliteDC. There were 1802 renal admissions pmp and 99 renal biopsiespmp. The management of acute renal failure (13 456 cases;230 pmp) represented a relevant proportion of the activitiesconducted in public RU. In 2004 there were 9858 new cases ofend-stage kidney disease requiring renal replacement therapy(RRT) (169 pmp). On 31 December 2004, 60 058 patients wereon RRT (1027 pmp), 43 293 of which (740 pmp) were on dialysisand 16 765 (287 pmp) with renal graft. Conclusions. This census of the Italian RU and DC in 2004 providesdecision makers and healthcare stakeholders with detailed datafor benchmarking and has financial implications for the publichealth system. Similar analyses may be conducted in other countriespermitting standardization of medical and cost-related aspectsof renal care.     

Asynchronism of the recovery of baroreflex sensitivity, blood pressure, and consciousness from anesthesia in rats

Anesthesia inhibits arterial baroreflex functions such as baroreflex sensitivity （BRS）. The main objective of the present study was to determine the time course of BRS recovery from anesthesia and to determine whether BRS recovery is synchronous with the recovery of consciousness and blood pressure （BP）. Experiments were performed in male Sprague-Dawley rats using different commonly used anesthetics at routine doses through intraperitoneal administration： （1） diazepam/ketamine,     

Distinct molecular pathogeneses of early-onset breast cancers in BRCA1 and BRCA2 mutation carriers: a population-based study

Breast cancers arising in women with and without a germline mutation in the BRCA1 or BRCA2 gene display different histological features, which suggests unique mechanisms of molecular pathogenesis: We used a molecular pathological analysis to define the genetic abnormalities relevant to these specific pathogeneses. Tumor material was studied from 40 women with breast cancer diagnosed before 40 years of age, sampled from a population-based study and stratified by BRCA1 and BRCA2 germline mutation status. Cases were not selected for family history or ethnic origin, and none were known to be genetically related. Thus, germline mutation itself is likely to impact on the molecular pathogenesis of these tumors, with no substantial influence due to modifying genetic or environmental factors. Breast cancers occurring in BRCA1 mutation carriers had significantly higher levels of p53 expression, including the preinvasive (carcinoma in situ) stage of disease, compared with cancers occurring in BRCA2 mutation carriers or women with no detectable germline mutation. These cancers also had a higher proliferation rate as measured by Ki-67 antibody. Expression of the prognostic factors c-erbB-2, cyclin D1, and estrogen receptor was significantly less common in BRCA1 mutation carriers. Lower levels of cyclin D1 were also found in cancers from BRCA2 mutation carriers compared with non-mutation carriers. Direct p53 mutation analysis revealed mutations in 18% of all of the early-onset breast cancers within the study and included rare insertion and deletional mutations in cancers from BRCA1 mutation carriers. Our data indicate that a BRCA1 breast cancer phenotype may be recognized by an exceptionally high proliferation rate and early and frequent p53 overexpression but infrequent selection for overexpression of several other prognostic factor proteins known to be involved in breast oncogenesis. In contrast, breast cancers arising in BRCA2 mutation carriers have a more heterogeneous phenotypic profile.     

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited cause of retinal detachment and one of the commonest autosomal dominant connective tissue dysplasias. There is clinical and locus heterogeneity with about two thirds of families linked to the gene encoding type II procollagen (COL2A1). Families with Sticklers syndrome type 1 have a characteristic congenital vitreous anomaly and are linked without recombination to markers at the COL2A1 locus. In contrast families with the type 2 variety have a different vitreo- retinal phenotype and are not linked to the COL2A1 gene. Type XI collagen is a quantitatively minor fibrillar collagen related to type V collagen and associated with the more abundant type II collagen fibrils. A mutation in COL11A2, the gene for alpha 2 (XI) procollagen, has recently been found in a family described as having Stickler syndrome, although there was no ocular involvement. Here we show for the first time that a family with the full Type 2 Stickler syndrome including vitreous and retinal abnormalities is linked to the COL11A1 gene and characterise the mutation as a Glycine to Valine substitution at position 97 of the triple helical domain caused by a single base G-- >T mutation. These results are the first to provide confirmation that type XI collagen is an important structural component of human vitreous. They also support previous work suggesting that mutations in the genes encoding collagen XI can give rise to some manifestations of Stickler syndrome, but of these, only mutations in COL11A1 will give the full syndrome including the vitreo-retinal features.      

Prenatal Diagnosis and Management of Nonimmune Hydrops Fetalis

We examined the incidence, aetiological factors and outcome in 40 cases of nonimmune hydrops fetalis (NIH) and suggest a rational approach to management. The incidence of NIH was 1 in 830 deliveries during the last 10-year period. In spite of extensive antenatal and postnatal investigation no cause could be established in 14 (35%) cases. A probable aetiological factor was found in 65% of cases. These included viral infection (7), cardiovascular (6), twin-to-twin transfusion (3), chromosomal abnormality (3), other malformation syndromes (4), renal dysplasia (1), laryngeal atresia (1) and severe fetomaternal haemorrhage (1). Five of the 40 fetuses survived, 2 treated antenatally for tachyarrhythmia, 2 had spontaneous resolution and the fifth fetus had repeated intrauterine transfusions because of human parvovirus B19-induced anaemia. After diagnosis of nonimmune hydrops fetalis, early referral to a tertiary centre is to be encouraged for investigation and provision of intensive perinatal care. Investigation allows parents to be counselled appropriately that the mortality is no longer 100% and a steadily growing number may be amenable to some form of fetal therapy.     

Nurse- and peer-led self-management programme for patients with an implantable cardioverter defibrillator; a feasibility study

Background  

The prevalence of cardiovascular disease is increasing. Improved treatment options increase survival after an acute myocardial infarction or sudden cardiac arrest, although patients often have difficulty adjusting and regaining control in daily life. In particular, patients who received an implantable cardioverter defibrillator (ICD) experience physical and psychological problems. Interventions to enhance perceived control and acceptance of the device are therefore necessary. This paper describes a small-scale study to explore the feasibility and the possible benefits of a structured nurse- and peer-led self-management programme ('Chronic Disease Self-Management Program' – CDSMP) among ICD patients.