Genetic polymorphisms at candidate genes affecting fat content and fatty acid composition in Modicana cows: effects on milk production traits in different feeding systems.

Feeding greatly affects milk yield and composition. The research is highlighting the potential of genetic polymorphism at some loci to affect milk yield and quality traits. These loci can be up/down regulated depending on the production environment; therefore, we hypothesized that milk yield and composition could differ when cows with different genotype at SCD, DGAT1 and ABCG2 loci are reared in different feeding systems. The polymorphisms of SCD, DGAT1 and ABCG2 genes were investigated in Modicana breed. In all, three polymorphic sites, responsible for the genetic variation of quantitative trait loci and therefore defined quantitative trait nucleotides, were genotyped: the transition g.10329C>T in 5th exon determines a substitution p.A293V in the SCD, the dinucleotide mutation g.10433-10434AA>GC in 8th exon responsible for p.K232A substitution in the DGAT1 and the transition g.62569A>C in the 14th exon responsible for p.Y581S substitution in the ABCG2 gene. In the sample of 165 Modicana cows, SCD and DGAT1 genes resulted polymorphic; the alleles g.10329T and g.10433-10434GC were the most frequent in SCD and DGAT1 (0.73 and 0.91) respectively, whereas ABCG2 locus was monomorphic for allele A (p.581Y). Sequencing analysis was carried out on 14 samples with different genotypes to confirm the results of the PCR-RFLP protocols. Based on the genotypes at SCD locus, 47 Modicana cows were selected for the nutritional trial: 24 cows in a semi-intensive farm, with 2 h/day grazing on natural pasture, and 23 cows in an extensive farm, with 8 h/day grazing on natural pasture. Monthly, milk yield and composition were evaluated and individual milk samples were analyzed for fatty acids composition by gas chromatography. No differences in milk yield, fat, protein, lactose, casein and urea were associated to SCD genotype. Feeding systems affected milk yield and composition. No significant genotype×feeding system interaction was observed for milk yield and composition. Fatty acids composition was significantly affected only by the feeding system. Significant interactions were found between SCD genotype and feeding system for six fatty acids: 4:0, 6:0, 8:0, 10:0, 12:0 and t11 18:1. We concluded that the feeding system was the factor that mostly affected milk production and composition; moreover, our results do not confirm what reported in literature as regard the effect of the SCD polymorphism on milk fatty acid composition. The high amount of pasture seemed to have resized the SCD polymorphism effects because of the different fatty acids composition of the diet.

WEB-DL Endovascular Treatment of Wide-Neck Bifurcation Aneurysms: Long-Term Results in a European Series.

BACKGROUND AND PURPOSE: Flow disruption with the WEB-DL device has been used safely for the treatment of wide-neck bifurcation aneurysms. The stability of aneurysm occlusion after this treatment was evaluated in the short and midterm, but not in the long term. This retrospective multicenter European study is the continuation of an already published series dealing with short- and midterm anatomic results and analyzes long-term data in patients treated with the WEB-DL. MATERIALS AND METHODS: Twelve European neurointerventional centers initially participated in the study. In addition to data collected for the initial publication, images obtained at long-term follow-up were collected and independently analyzed by the same experienced interventional neuroradiologist. RESULTS: Of the initial 45 patients, 26 (20 women and 6 men; 35-73 years of age; mean, 55.2 ± 10.6 years; median, 55.5 years) with 26 aneurysms treated with the WEB-DL device had long-term follow-up (median, 27.4 months). Three of 26 patients (11.5%) were retreated between short- and midterm follow-up, and none, between mid- and long-term follow-up. Long-term aneurysm occlusion in the 19 patients treated with the WEB only and not retreated during follow-up was complete occlusion in 13/19 patients (68.4%), including aneurysms with opacification of the proximal recess in 9/19 patients (47.4%), neck remnant in 3/19 patients (15.8%), and aneurysm remnant in 3/19 patients (15.8%). In all patients (100.0%), aneurysm occlusion was stable between midterm and long-term follow-up. CONCLUSIONS: The results suggest that WEB treatment of wide-neck bifurcation aneurysms offers long-term stable occlusion.

The Treviso Dementia (TREDEM) Study: A Biomedical, Neuroradiological, Neuropsychological and Social Investigation of Dementia in North-Eastern Italy.

BACKGROUND: The incidence of dementia increases exponentially with age but knowledge of real disease-modifying interventions is still limited. OBJECTIVES: To describe the study design and methods of a large prospective cohort study aimed at exploring the complex underlying relationships existing among cognition, frailty, and health-related events in older persons with cognitive impairment. DESIGN: Prospective cohort study of a representative population of outpatients attending the Treviso Cognitive Impairment Center between 2000 and 2010. SETTING: The TREVISO DEMENTIA (TREDEM) Study conducted in Treviso, Italy. PARTICIPANTS: 490 men and 874 women, mean age 79.1 ± 7.8 years (range 40.2-100 years). MEASUREMENTS: Physiological data, biochemical parameters, clinical conditions, neuroradiological parameters (e.g., brain atrophy and cerebral vascular lesions identified by computerized tomography scans), neuropsychological assessment, and physical function markers were measured at baseline. Patients were followed-up to 10 years. RESULTS: The final sample included in the study was predominantly composed of women and characterized by an initial physical function impairment and increased vascular risk profile. Cognitive function of the sample population showed moderate cognitive impairment (Mini Mental State Examination 20.2 ± 6.3; Clinical Dementia Rating 1.2 ± 0.7), and a prevalence of vascular dementia of 26.9%. Cortical, subcortical and hippocampus atrophy were all significantly correlated with age and cognitive function. CONCLUSION: Results obtained from the preliminary analyses conducted in the TREDEM study suggest that the database will support the accomplishment of important goals in understanding the nature of cognitive frailty and neurodegenerative diseases.

Sudden hearing loss in sarcoidosis: otoneurological study and neuroradiological correlates.

Sarcoidosis is an inflammatory multisystem disorder of unknown cause. Approximately 5-7% of patients manifest symptoms of central nervous system involvement, or neurosarcoidosis. Cranial neuropathy usually entails facial nerve palsy and optic neuritis. Sudden hearing loss has been reported in fewer than 20 cases. Herewith, two new cases of sudden hearing loss due to probable neurosarcoidosis are reported, each having a quite different clinical course. In one case, unilateral sudden hearing loss and facial palsy were the presenting symptoms of systemic sarcoidosis, while in the second, unilateral sudden deafness occurred despite ongoing immunosuppressive treatment for systemic sarcoidosis.

Coiling and neuroendoscopy: a new perspective in the treatment of intraventricular haemorrhages due to bleeding aneurysms.

BACKGROUND: Intraventricular haemorrhages (IVHs) caused by bleeding aneurysms are critical conditions that often carry a severe prognosis. Two main problems must be urgently dealt with: the secondary damage caused by intraventricular clotting and the risk of early rebleeding. A protocol of ultra-early endoscopic ventricular evacuation, after securing the aneurysm with coils, is proposed to solve this challenge in the acute phase and within a few hours of onset. METHODS: Ten consecutive patients presenting with haematocephalus from aneurysm rupture were treated in our institute with coiling and endoscopic clot aspiration extended to the whole ventricular system. The only inclusion criteria were the presence of a massive IVH and an aneurysm appropriate for coiling. Computed tomography scans obtained before (within 4 h of symptom onset in all patients) and immediately after surgery were compared for Graeb score and ventriculocranial ratio (VCR); the Glasgow Outcome Scale (GOS) was assessed at 1 year. RESULT: All patients were treated within 2 days of onset. The procedure resulted in a mean 58% removal of ventricular blood and decrease of hydrocephalus; the mean (standard deviation (SD)) Graeb score reduced from 11.5 (0.7) to 4.7 (2.2) (p<0.001) and mean ventriculocranial ratio from 0.26 (0.06) to 0.17 (0.05) (p<0.001). No rebleeding or delayed hydrocephalus needing shunt was observed. Mortality at 1 year was 30%; marked disability (GOS = 3) and good recovery (GOS = 5) were observed in 40% and 30% of patients, respectively. CONCLUSIONS: Early neuroendoscopic removal of blood casting from the lateral to the fourth ventricle after coiling of bleeding aneurysms is a feasible approach, allowing in most instances the rapid improvement of the IVH.

PGE(1) short term therapy in critical lower limb ischemia.

AIM: Our study aims to evaluate the efficiency of short-term therapy with alprostadil (a PGE molecular derivative) on patients affected by critical ischemia of the lower limbs and unsuitable for surgical revascularization. The study was carried out on two groups of patients treated with the traditional long-term or a short-term protocol respectively. METHODS: The parameters evaluated and statistically compared to existing studies were, the side effects, subjective pain measured on an analogic scale, objective pain calculated according to analgesic intake, and change in trophic lesions. RESULTS: Our results revealed some differences between the two groups. The manifestation of side effects led to treatment suspension in 8% of long-term therapy cases only. Subjective pain was reduced or disappeared in 83.83% of cases (p<0.001) and there was no statistically significant difference between the two groups. The course of analgesic intake was again similar in both groups. Trophic lesions improved or completely healed in 64.7% (p<0.005) and although a greater tendency towards complete healing was evident in the short-term patients, it was not statistically significant. There was no significant difference between the two groups in the ankle/arm pressure index, but a significant improvement has been observed in 30.88% of cases. The results we obtained from both groups are similar and confirm the valid therapeutic use of alprostadil in patients with peripheral arterial occlusive disease (PAOD). CONCLUSION: Our study reveals the presence of intrinsic advantages to the physician with the short-term schedule, through its higher tolerability, improved and more frequent patient and therapy controls and shorter hospitalization.

Management of spontaneous bleeding due to hepatocellular carcinoma.

BACKGROUND: Spontaneous rupture is a life-threatening complication of HCC, occurring in 4.8-26% of cases. Liver failure is the main cause of death. Debates still remain on the most appropriate treatment in such patients because of the high operative mortality of emergency surgery and the high risk of rebleeding and less satisfying mid- and long-term results of nonoperative procedures like angiographic embolization. Early and long-term results of a surgically oriented treatment, based on prompt evaluation of the functional liver reserve and tumor resectability was retrospectively review-ed. METHODS: From January 1994 to December 2000, 11 patients (7 males and 4 female, mean age 66.2 (11.86 years) were treated for ruptured HCC, in 10 cases involving a cirrhotic liver. Seven patients underwent emergency surgery and 4 patients transcutaneous arterial embolization (TAE). Liver resection was performed in patients with preserved liver function, after ultrasonography and/or CT scan demonstrated hemoperitoneum and a single resectable liver tumour (5 cases). In one patient with cirrhosis, ultrasonography showed only hemoperitoneum. A bleeding nodule was discovered intraoperatively and resected in a liver with a multinodular HCC. Another patient under-went emergency resection after referral at our Unit with a surgical packing. In 4 cases with poor liver function and/or unresectable tumour TAE of the neoplasm was performed, in one case after surgical packing. Mortality, morbidity and patients survival after treatment were analyzed. All patients had at least 1 year follow-up. RESULTS: All patients underwent minor resection; 2 left lobectomies, 1 segmentectomy (VII), 1 bisegmentectomy (VII-VIII), and 3 wedge resections. Postoperative course was complicated by ascites in 5 cases and subphrenic abscess in one case. Four patients died 3, 4, 6 and 62 months after surgery; 3 patients are actually alive 22, 25, and 89 months after surgery. Four patients were submitted to TAE: all patients died within 6 months. CONCLUSIONS: When ruptured HCC is suspected, preserved liver function (Child A-B7) and a resectable hepatic tumour are considered clear indications to surgery. Emergency liver resection achieved good early and long-term results. In cases of advanced liver disease or multinodular HCC a non-operative approach, like TAE, must be attempted. Surgical direct hemostasis or hepatic artery ligation must be reserved for patients with uncontrollable o recurrent bleeding after TAE.

Abnormalities of bioimpedance measures in overweight and obese hemodialyzed patients.

BACKGROUND: The body composition in overweight and obese hemodialyzed patients (HD) remains ill-defined. This study evaluates in HD patients the influence of body size, as indicated by body mass index (BMI, kg/m(2)), on body composition by measuring bioimpedance analysis (BIA)-derived variables (phase angle (PA), fat-free mass (FFM) and body cell mass (BCM). METHODS: We studied 50 Caucasian patients (mean age 62.8+/-9.2 y) on standard bicarbonate hemodialysis for at least 12 months who regularly achieved dry weight in post-HD, received similar dialysis doses and were free from inflammation/infection. Thirty-eight gender- and age-matched healthy subjects were included as controls (CON). Both HD and CON were divided into three groups on the basis of their BMI(kg/m2) 18.5-24.9, normal-weight (NW); 25-29.9, overweight (OW); and > or =30, obese (OB). In HD patients, BIA was performed 30 min after the end of dialysis. RESULTS: Seven patients were obese (12%) while 16 were overweight (32%); in CON, 12 were obese (31%) and 12 overweight (31%). BIA-measured extracellular water was comparable in all groups. PA, which was similar in normal-weight HD and CON (6.2+/-0.9 degrees and 6.3+/-0.8 degrees ), decreased in OW- and OB-HD patients (5.3+/-1.0 degrees and 5.2+/-0.6 degrees, respectively; P<0.05 vs NW-HD) while it was unchanged in OW- and OB-CON (6.1+/-0.8 degrees and 5.9+/-0.5 degrees, P<0.05 vs respective HD groups). In OW and OB patients, the lower PA values were coupled with a major reduction of BIA-derived percentage BCM and FFM (P<0.05 vs NW-HD, and vs OW- and OB-CON). In patients, PA and BCM correlated with anthropometry-measured FFM. Of note, serum albumin and protein catabolic rate were significantly reduced in OB patients. CONCLUSION: In overweight and obese HD patients, BIA-derived FFM, BCM and PA are significantly lower with respect to normal-weight patients and BMI-matched controls. These abnormalities of body composition are coupled with reduction of anthropometric measures of lean mass and a decrease of protein intake that, however, becomes significant only in the obese. We therefore suggest that overweight and obese HD patients are at risk of protein malnutrition in spite of excessive energy intake. BIA may be considered as a useful diagnostic tool to detect such a condition early.

Startle reflex and emotion modulation impairment after a right amygdala lesion.

In the present study, startle responses during resting states as well as during the presentation of a set of emotive slides were recorded from a 32-year-old male patient with a rare localized lesion of the right amygdala. The startle reflex is a response modulated by affective states: it has been reliably used in the literature to measure the aversiveness of emotive stimuli. The animal literature has shown that the circuit of this reflex is directly influenced by amygdala projections. The startle responses of the patient were compared with those of eight age-matched normal subjects. The patient's startle amplitudes showed an overall impaired response and an inhibited reflex contralateral to the lesion. In addition, he failed to show the typical startle potentiation induced by an aversive emotive background. The data confirm, in the human, previous results from the literature in other species on amygdala involvement in startle and emotional responses. Furthermore, the observation of the importance of the right amygdala in the modulation of emotion is consistent with the hypothesis of right hemisphere specialization for aversive emotions. The results are discussed in the context of the literature on human amygdala lesions.

Reliability in diagnosis of brain death.

OBJECTIVE: To compare some of the confirmatory investigations of brain death with clinical criteria in order to achieve the most sensitive and accurate diagnosis of brain death. DESIGN: All patients with isolated brain lesions and Glasgow Coma Scale (GCS) = 3 were subjected to neurological examination after ruling out hypothermia, metabolic disorders and drug intoxications and diagnosed as clinically brain-dead when the brainstem reflexes were absent and the apnea test positive. PATIENTS: 15 patients with clinical diagnosis of brain death entered this study. MEASUREMENTS AND RESULTS: The patients were submitted to the following investigations: electroencephalogram (EEG), transcranial Doppler (TCD) of the middle cerebral arteries (MCA), cerebral blood flow measurements with the i.v. Xe-133 method (CBF) and selective cerebral angiography (CA). EEG was isoelectric in 8 patients while the remaining 7 patients showed persistence of electrical activity. TCD was compatible with intracranial circulatory arrest in 18 MCA districts, compatible with normal flow in 2 and undetectable in 10 out of 30 districts insonated. In CBF examinations, however, all the patients showed a characteristic "plateau" of the desaturation curves lasting through the whole investigation and suggestive of absent cortical flow. CA showed circulatory arrest in both carotid and vertebral arteries. CONCLUSIONS: Our study suggests that cerebral angiography and CBF studies are the most reliable investigations whereas the role of EEG and TCD remains to be determined because of the presence of false negatives and positives.

Assessing brain function in post-traumatic coma by means of bit-mapped SEPs, BAEPs, CT, SPET and clinical scores. Prognostic implications.

Sixty-eight severely head injured comatose patients were studied. Bit-colour-mapped SEPs to median nerve stimulation, BAEPs, CT and SPET regional values and ICP were assessed in relation to clinical information in evaluating cerebral function. All these variables were related to a 1-year outcome. Statistical tests confirmed the higher predictive reliability of both neurophysiological and perfusive (SPET) functional parameters compared to CT structural findings. Generally, SEPs appeared to be more reliable in predicting outcome than BAEPs. Modifications of frontal components could occur independently of post-central ones, being closely related to underlying cerebral lesions. The parameter showing the greatest correlation with outcome in the first recording session was the P25 latency, whereas this prognostic role was mainly assumed by the amplitude value of the frontal N30-P45 complex in a second recording session carried out during the third week following head trauma.

Vertebrobasilar infarcts in infancy: a case report and review of the literature.

We report a rare case of a child with cerebellar infarction confirmed by vertebral angiography, computed tomography and magnetic resonance imaging. The etiology of this case is unknown. The relevant literature is reviewed.

[Thromboendarterectomy and angioplasty of the carotid bifurcation. Technical notes]. / Tromboendoarteriectomia ed angioplastica della biforcazione carotidea. Note di tecnica.

Exceptional surgical reports of widespread atherosclerotic involvement of both internal and external carotid arteries required us to carry out an unusual surgical procedure. During a four years period an original carotid endarterectomy's technique was performed in four patients. We point on the importance of a correct external carotid endarterectomy on maintaining an effective intracranial arterial flow, especially when atherosclerotic lesions are contemporary present in the extra and intracranial internal carotid arteries.

Stereotactic support in the excision of brain tumors. Technical note.

The surgical resection of deep-seated brain tumors may be facilitated by CT guided stereotactic methods. The Authors present a procedure of preoperative localisation and delimitation of the border of a neoplastic mass facing important functional areas. Ideally tumor excision should not be extended beyond that boundary which for this reason is targeted and is stereotactically labeled using non diffusible dyes.

[Treatment of soft cervical hernia by percutaneous intradiscal injection of aprotinin]. / Traitement des hernies cervicales molles par injection intradiscale percutanée d'aprotinine.

Chemonucleolysis is widely used in the treatment of disease of the lumbar intervertebral disk. From a series of 34 patients the authors report their experience using this technique at the cervical level using aprotinin instead of chymopapain in cervical soft disk protrusion. They underline the technique, mechanism of aprotinin and indications.