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Biomedical subjects

M Sala

Publications and source records attributed to M Sala.

At least 19 recordsLinked to original sources
PubMed2006

Is microbubble-enhanced ultrasonography sufficient for assessment of response to percutaneous treatment in patients with early hepatocellular carcinoma?

The objective of this study was to assess the efficacy of contrast-enhanced ultrasonography (CEUS) with SonoVue to evaluate the response to percutaneous treatment (ethanol injection/radiofrequency) of hepatocellular carcinoma in comparison with spiral computed tomography (CT) immediately and 1 month after treatment. Forty-one consecutive cirrhotic patients with early stage tumor (not suitable for resection) were included. Spiral CT and CEUS were performed in all patients before treatment, in the following 24 h, and 1 month later. The results of each examination were compared with the 1-month spiral CT, considered the gold standard technique. The 24-h CEUS and the 24-h spiral CT sensitivity to detect residual disease were 27% and 20%, respectively. The 24-h CEUS and the 24-h spiral CT positive predictive value of persistent vascularization detection were 75% and 66%, respectively. The 1-month CEUS detected partial responses in ten out of 11 cases (91% sensitivity, 97% specificity, 95% accuracy). Spiral CT and CEUS performed in the 24 h following treatment are slightly useful to evaluate therapeutic efficacy. The 1-month CEUS has a high diagnostic accuracy compared with spiral-CT in the usual assessment of percutaneous treatment response.

Administration, Cutaneous↗
PubMed2006

Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder with increased risk of paediatric tumours. The aetiology involves epigenetic and genetic alterations affecting the 11p15 region, methylation of the differentially methylated DMR2 region being the most common defect, while less frequent aetiologies include mosaic paternal 11p uniparental disomy (11patUPD), maternally inherited mutations of the CDKN1C gene, and hypermethylation of DMR1. A few patients have cytogenetic abnormalities involving 11p15.5. METHODS: Screening of 70 trios of BWS probands for 11p mosaic paternal UPD and for cryptic cytogenetic rearrangements using microsatellite segregation analysis identified a profile compatible with paternal 11p15 duplication in two patients. RESULTS: Fluorescence in situ hybridisation analysis revealed in one case the unbalanced translocation der(21)t(11;21)(p15.4;q22.3) originated from missegregation of a cryptic paternal balanced translocation. The second patient, trisomic for D11S1318, carried a small de novo dup(11)(p15.5p15.5), resulting from unequal recombination at paternal meiosis I. The duplicated region involves only IC1 and spares IC2/LIT1, as shown by fluorescent in situ hybridisation (FISH) mapping of the proximal duplication breakpoint within the amino-terminal part of KvLQT1. CONCLUSIONS: An additional patient with Wolf-Hirschorn syndrome was shown by FISH studies to carry a der(4)t(4;11)(p16.3;p15.4), contributed by a balanced translocation father. Interestingly, refined breakpoint mapping on 11p and the critical regions on the partner 21q and 4p chromosomal regions suggested that both translocations affecting 11p15.4 are mediated by segmental duplications. These findings of chromosomal rearrangements affecting 11p15.5-15.4 provide a tool to further dissect the genomics of the BWS region and the pathogenesis of this imprinting disorder.

Beckwith-Wiedemann Syndrome↗
PubMed2005

3,4 Methylenedioxymethamphetamine-induced conditioned place preference (CPP) is mediated by endocannabinoid system.

The appetitive potential of i.c.v. injections of 3,4 methylenedioxymethamphetamine (MDMA), using a conditioned place preference (CPP) procedure, was investigated. In a range of doses (0.1-10 ng/rat), devoid of motor stimulation, a dose-dependent CPP was obtained. The effect of the most effective dose (10 ng/rat) was prevented by pre-treatment with the CB1 cannabinoid (SR 141716A) [N-piperidino-5-(4-chlorophenyl) 1-(2, 4-dichloro-phenyl)-4-methyl pyrazole-3-carboxamide hydrochloride] (0.5 mg kg(-1)), the opioid (naloxone) (2 mg kg(-1)), and the serotonin 5-HT3, tropisetron [endo-8-methyl-8-azabicyclo [3.2.1] oct-3-olindol-3-yl-carboxylate hydrochloride] (1 mg kg(-1)), receptor antagonists, which did not induce place conditioning on their own. SR 141716A was more efficient than naloxone and tropisetron in blocking the incentive learning supported by MDMA. These results demonstrate for the first time that i.c.v. MDMA, at very low doses, induces CPP and that endocannabinoid system may participate in this effect.

Animals↗
PubMed2005

A novel A*24 allele, A*2442, was detected through routine bone marrow donor screening.

In this article, we report the identification of a new HLA-A allele found in a DNA sample which was part of the routine bone marrow donor typing performed in our laboratory. This novel allele officially designated as A*2442 was found in a sample from a female Caucasoid donor (Franken, Bavaria, Germany; lab code 142654) and differs from the closest related allele A*2408 by two nucleotide exchanges. In position 81, the A (A*2408) is changed to 81 C in the novel allele A*2442, resulting in an amino acid substitution at codon 27, glutamine (A*2408) is replaced by histidine ((31)Gln-->(31)His). In position 292, the G (A*2408) is changed to C also resulting in an amino acid replacement, the codon 98 asparagine is mutated to histidine ((98)Asn-->(98)His) in the new A*2442 allele. The second allele was determined to be A*0301. Further typing of this sample is B*1501 B*4001.

Alleles↗
PubMed2005

Bone marrow donor routine HLA typing identified a novel B*55 allele, B*5517, confirmed by allele-specific DNA cycle sequencing.

In this article, we report the identification of a new human leukocyte antigen-B allele in a sample that was tested in our routine typing for volunteer bone marrow donors. This novel allele officially designed B*5517 was found in a male donor of Bavarian Caucasoid origin (Laboratory code 150113). The search for unrelated bone marrow donors was initiated by the Aktion Knochenmarkspende Bayern. In comparison with the common B*5501 allele, B*5517 differs at three nucleotide positions all located in exon 3, at position 379 (C-->G), 419 (T-->A), and 420 (A-->C), resulting in two amino acid substitutions at codons 127 and 140. The amino acid 127, leucine, is changed to valine, and the amino acid 140, also a leucine, is replaced by tyrosine in B*5517.

Alleles↗
PubMed2005

[Early diagnosis of liver cancer].

Hepatocellular carcinoma is a frequent neoplasm that usually develops in patients with liver cirrhosis. Because it is the main cause of death in these patients, they should be included in a surveillance program in order to identify these tumors at an early stage and be able to indicate curative treatment (liver transplantation, surgical resection or percutaneous ablation therapy) and to reduce mortality. Surveillance should include determination of alpha-fetoprotein and abdominal ultrasound every 6 months. This strategy should only be applied to patients suitable to receive curative treatment if diagnosed of hepatocellular carcinoma. Using this approach, 40-80% of tumors identified are solitary at diagnosis, although only half of these patients can benefit from curative treatment.

Carcinoma, Hepatocellular↗
PubMed2005

Dietary glycemic load and macronutrient intake in healthy Italian children.

The objective is of this study is to examine the relationship of dietary glycemic load (GL) and overall glycemic index (OGI) with macronutrients intake, body mass index (BMI) and insulin sensitivity in healthy children. The subjects comprised of 105 healthy non-obese eight-years old children, 60 boys and 45 girls. A Food Frequency Questionnaire (FFQ) evaluating dietary habits, GL and OGI. Insulin sensitivity was evaluated by the homeostatic model assessment (HOMA). GL was positively associated with dietary total (correlation coefficient, r=0.57) and starch (r=0.67) carbohydrates, daily consumption of pasta and white bread, cooked potatoes, bakery products and cookies, and negatively with dietary fats (r=-0.52). OGI was positively associated with daily consumption of white bread and cookies, and negatively associated with soluble carbohydrates (r=-0.35), and consumption of fibres, proteins, fruit, legumes and carrots. No significant association was found of GL or OGI with BMI or insulin sensitivity. In healthy children, GL and OGI may represent a useful indicator of quality of diet.

Child↗
PubMed2004

Seasonal changes in serum metabolites in free-ranging alpine marmots (Marmota marmota).

Circannual changes in serum parameters and body mass were studied in free-ranging Marmota marmota that had been shot in Switzerland (Grisons) for management reasons in May, July, and September of 1995, 1996, and 1997; and in April 1996. Markers of lipid (triglycerides, cholesterol), protein (total protein, urea-nitrogen) and mineral (calcium, inorganic phosphate) metabolism were evaluated in 111 haemolysis-free serum samples; the effects of sex, age, reproductive status, season and year were tested. Mean body mass was higher in adult males than in adult females in July and September, and serum cholesterol concentrations were lower in adult males in May. Pregnant females had lower concentrations of total protein than non-pregnant females, and triglyceride concentrations were negatively correlated with the number of uterine ampullae. Inorganic phosphate decreased and total protein increased with age. In adults, triglycerides, cholesterol and urea-nitrogen increased mainly from May to July and decreased between September and May. Total protein, calcium and phosphate did not change throughout the year. This suggests that, during the active season, ingested lipids and amino acids were utilised for metabolic needs or lipid storage, while in winter, lipids were catabolised and protein was spared. Quantitative differences between years, observed for triglycerides and total protein during the active season, were probably due to different climatic conditions in each year.

Age Factors↗
PubMed2004

Stress and hippocampal abnormalities in psychiatric disorders.

The hippocampus plays a main role in regulating stress response in humans, but is itself highly sensitive to neurotoxic effects of repeated stressful episodes. Hippocampal atrophy related to experimental stress has been reported in laboratory studies in animals. Several controlled brain imaging studies have also shown hippocampal abnormalities in psychiatric disorders, including posttraumatic stress disorder (PTSD), major depressive disorder (MDD), and borderline personality disorder (BPD). This paper reviews the physiological role of the hippocampus in stress circuitry and the effects of stress on cognitive functions mediated by the hippocampus. We also review brain imaging studies investigating hippocampus in PTSD, MDD, and BPD. This literature suggests that individuals with PTSD, MDD, and BPD may suffer hippocampal atrophy as a result of stressors associated with these disorders. Prospective, longitudinal studies will be needed in high-risk offspring and first-episode subjects to explore the relationship between stress and hippocampal atrophy in these neuropsychiatric illnesses.

Animals↗
PubMed2004

Feeding practices of infants through the first year of life in Italy.

AIM: To investigate infant feeding practices through the first year of life in Italy, and to identify factors associated with the duration of breastfeeding and early introduction of solid foods. METHODS: Structured phone interviews on feeding practices were conducted with 2450 Italian-speaking mothers randomly selected among women who delivered a healthy-term singleton infant in November 1999 in Italy. Interviews were performed 30 d after delivery and when the infants were aged 3, 6, 9 and 12 mo. Type of breastfeeding was classified according to the WHO criteria. RESULTS: Breastfeeding started in 91.1% of infants. At the age of 6 and 12 mo, respectively, 46.8% and 11.8% of the infants was still breastfed, 68.4% and 27.7% received formula, and 18.3% and 65.2% were given cow's milk. Solids were introduced at the mean age of 4.3 mo (range 1.6-6.5 mo). Introduction of solids occurred before age 3 and 4 mo in 5.6% and 34.2% of infants, respectively. The first solids introduced were fruit (73.1%) and cereals (63.9%). The main factors (negatively) associated with the duration of breastfeeding were pacifier use (p < 0.0001), early introduction of formula (p < 0.0001), lower mother's age (p < 0.01) and early introduction of solids (p = 0.05). Factors (negatively) associated with the introduction of solids foods before the age of 3 mo were mother not having breastfed (p < 0.01), early introduction of formula (p < 0.01), lower infant bodyweight at the age of 1 mo (p = 0.05) and mother smoking (p = 0.05). CONCLUSION: The duration of breastfeeding in Italy is still inadequate, as well as compliance with international recommendations for timing of introduction of complementary foods. National guidelines, public messages and educational campaigns should be promoted in Italy.

Breast Feeding↗
PubMed2003

Serological study of a population of alpine chamois (Rupicapra r rupicapra) affected by an outbreak of respiratory disease.

A serological survey of respiratory virus infections was carried out from 1998 to 2001 in Lecco province, Italy, as part of a health monitoring programme in a population of alpine chamois, many of which died of pneumonia in autumn and winter 2000 to 2001; 194 carcases of all age classes were found over a short period and in a small area. Eighteen of them, which were examined postmortem, consistently showed signs of severe fibrinous lobar pneumonia or catarrhal bronchopneumonia. Samples of serum from 145 chamois collected from hunted animals and carcases were tested by a virus neutralisation test against bovine respiratory syncytial virus (BRSV), bovine viral diarrhoea virus, bovine herpesvirus type 1 and parainfluenzavirus type 3. Positive results were detected only for BRSV. The area was divided into two subunits on the basis of the distribution of deaths; in the areas where fatalities were observed there was a significant increase of BRSV titres at the beginning of the outbreak. Furthermore, during the 2000 and 2001 hunting seasons antibody titres to BRSV were significantly higher in the areas where mortality occurred. The roe deer living in the same area were not affected by pneumonia and had a low prevalence of titres to BRSV which did not vary during the period of the study.

Animals↗
PubMed2003

Neurochemical and behavioural modifications induced by scrapie infection in golden hamsters.

Scrapie-infected hamsters were tested for spontaneous motor activity and passive avoidance at various times after infection. After testing, some animals were killed and their whole brains assayed for norepinephrine, dopamine, serotonin and their metabolites. The apparent rate of turnover was estimated in terms of metabolite/amine concentrations. After 70 days, there was a decrease in passive avoidance and dopamine and serotonin. Passive avoidance correlated with the apparent rate of turnover of dopamine, whereas motor activity correlated with that of serotonin and dopamine.

Animals↗
PubMed2003

Gender-related differences in clinical and pathological characteristics and therapy of bladder cancer.

OBJECTIVE: To confirm the very high male:female ratios previously observed among Spanish bladder cancer patients and to assess gender differences in tumoral characteristics, diagnostic procedures, and treatment in a large series of consecutive bladder cancer patients. PATIENTS AND METHODS: All newly diagnosed bladder cancer patients (n=615) in 17 Spanish hospitals, between 1997-2000, were included. Information was collected both through personal interviews to patients and from medical records using a structured form. RESULTS: Seventy-six percent of tumours were superficial. The male:female ratio was 6.7 and it was similar for superficial and infiltrating tumours. Women were older than men at the diagnosis of bladder cancer (68.2+/-9.4 years versus 65.7+/-9.7 years, p=0.01). Ten percent of superficial tumours in women, versus 3% in men, were classified as "other histological types" (p=0.008). T1GIII tumours were more frequent among men (17% versus 7%, p=0.047). On the other hand, women were more likely to present with 0a-stage tumours (48.6% versus 35.5%, p=0.04), multiple tumours (50% versus 29%, trend test: 0.005), multi-centric tumours (54% versus 38%, p=0.019), and larger infiltrating masses (5.2 cm versus 3.8 cm, p=0.03) than men. Among 0a-stage tumours, only 23% of women compared to 54% of men received transurethral resection (TUR) alone (p=0.002). Women were almost five-fold more likely to receive additional therapies to TUR (p=0.004) after adjusting for age, geographical area, stage, tumoral size, nuclear grade, and multiplicity. CONCLUSION: The study confirms the very high male:female ratio of bladder cancer in Spain. We found substantial differences in the pathological characteristics of tumours from men and women. There was a tendency for women to receive more frequently non-standard, more aggressive, therapy than men.

Adult↗
PubMed2003

Review article: natural history and prognostic prediction of patients with hepatocellular carcinoma.

The knowledge of the natural history of patients with hepatocellular carcinoma is important to estimate the prognosis at diagnosis and indicate the best therapy. Prognosis is related to tumour stage at diagnosis, degree of liver function impairment induced either by the tumour itself or by the underlying cirrhosis, general physical condition of the patients, and potential impact of therapy. Prognostic estimation should take into account all four aspects. Treatment is very relevant to be considered in patients with early stage tumours since surgical resection, transplantation or percutaneous ablation provide a high rate of complete responses and thus, improve survival. This might be as high as 50-75% at 5 years. Patients diagnosed at an intermediate/advanced stage will receive palliative treatment and prospective studies have recently redefined the outcome predictors of this stratum. Asymptomatic patients in whom the tumour has not invaded vessels or disseminated may reach a 50% survival at 3 years, while those with adverse predictors do not reach this time point. These data have to be taken into account not only in the conventional clinical practice, but also in the design and evaluation of prospective investigations that should be properly powered to reach an informative sample size. To achieve both aims, within the Barcelona Clinic Liver Cancer Group we have developed a staging system that combines prognosis prediction with decision making, thus becoming a useful tool both for practice and research.

Carcinoma, Hepatocellular↗
PubMed2003

Organochlorine compounds and concentrations of thyroid stimulating hormone in newborns.

AIMS: To assess the association between prenatal exposure to organochlorine compounds and thyroid status in newborns from an area with high levels of hexachlorobenzene (HCB). METHODS: A total of 98 mother-infant pairs (83.1% of all children born during the period 1997-99 in a specific area polluted with HCB) were recruited. Levels of organochlorine compounds were measured in 70 cord serum samples. Concentrations of thyroid stimulating hormone (TSH) were measured in plasma of all newborns three days after birth. RESULTS: All newborns had concentrations of TSH within the range of normal reference values (<25 mU/l). Dichlorodiphenyl dichloroethylene (p,p'DDE), beta-hexachlorocyclohexane (beta-HCH), polychlorinated biphenyl (PCB) 138 and 118 were related to higher concentrations of TSH, although only significant for beta-HCH. Levels of HCB were not associated with TSH. CONCLUSIONS: Although this community is highly exposed to HCB, no association was found between this organochlorine and TSH concentrations at birth.

Air Pollutants↗
PubMed2002

Primary HIV type-1 infection misdiagnosed as Mediterranean spotted fever.

The case studies of four patients, two men and two women between the ages of 42 and 54 years, are described. They presented to a hospital emergency department during the summer months with acute fever and exanthema. These are the primary symptoms of Mediterranean spotted fever (MSF), an endemic rickettsial disease in the Mediterranean basin that is seen particularly during the summer. The patients were clinically diagnosed as having MSF, but their diagnoses were not confirmed by serological testing. One patient was diagnosed with primary human immunodeficiency virus type 1 infection (HIV-1) 10 days later. The remaining three patients were diagnosed with HIV infection years later, but it is very likely that they also had primary HIV infection when MSF was presumed. When a patient develops sudden onset of fever and a maculopapular rash that is characteristic of MSF, the possibility of primary HIV-1 infection should be considered.

Adult↗