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Biomedical subjects

A Bianchi

Publications and source records attributed to A Bianchi.

At least 199 records · Page 11Linked to original sources
PubMed1997

Linkage analysis between idiopathic generalized epilepsies and the GABA(A) receptor alpha5, beta3 and gamma3 subunit gene cluster on chromosome 15.

INTRODUCTION: We tested the hypothesis that genetic variants within the GABA(A) alpha5, beta3 and gamma3 subunit gene cluster on chromosome 15q11-q13 confer genetic susceptibility to common subtypes of idiopathic generalized epilepsy (IGE). MATERIAL AND METHODS: Ninety-four families were selected from IGE patients with either juvenile myoclonic epilepsy (JME), juvenile (JAE) or childhood absence epilepsy (CAE). Cosegregation was tested between dinucleotide polymorphisms associated with the human GABA(A) alpha5, beta3 and gamma3 subunit gene cluster and three different IGE trait models. RESULTS: Evidence against linkage to the GABA(A) alpha5, beta3 and gamma3 subunit gene cluster was found in the entire family set and subsets selected from either CAE or JAE. In 61 families of JME patients, a maximum lod score (Zmax=1.40 at Theta(max)=0.00) was obtained for a broad IGE spectrum ("idiopathic" generalized seizure or generalized spike and wave discharges in the electroencephalogram) assuming genetic heterogeneity (alpha=0.37; P=0.06) and an autosomal recessive mode of inheritance. CONCLUSION: The possible hint of linkage in families of JME patients emphasizes the need for further studies to determine whether a recessively inherited gene variant within the GABA(A) alpha5, beta3 and gamma3 subunit gene cluster contributes to the pathogenesis of "idiopathic" generalized seizures and associated EEG abnormalities in a proportion of families.

Chromosomes, Human, Pair 15↗
PubMed1997

[The current indications for Madden's radical mastectomy in our experience. A critical review of 201 consecutive patients].

The clinical pathological data regarding the 201 patients (203 operations running) who underwent radical mastectomy according to Madden in the II Division of General Surgery at Brescia Civil Hospital in the period 1993-1994, have been reexamined in order to check the real need of radical surgery. This further analysis, apart from the patients with neoplasias of considerable dimensions (T2; > 2 cm), has been carried out on 100 tumors smaller dimensions (T1; < 2 cm) and has confirmed the necessity of radical surgery in 87 cases. Of the 13 operations (6.4%) that have been considered "improper" 2 were due to erroneous clinical staging (dubious cutaneous infiltration) and 5 (2.5%) presented a neoplastic diameter of exactly 2 cm which only partially justified radical surgery. In six patients (2.9%) we haven't found clinical pathological elements which contraindicated conservative surgery.

Adult↗
PubMed1997

[Complicated urachal cyst: a difficult differential diagnosis].

Embryologically, the allantois connects the urogenital sinus with the navel. Normally, the allantois is oblitered before the birth and is represented by a fibrous cord, called urachus, extending from the dome of the bladder to the navel. Urachal formation is directly related to bladder descent. Incomplete obliteration sometimes occurs. Disease rarely occurs in urachus, but adenocarcinoma is the most fearful and rare, and it represents the 0.01% of the whole adult carcinoma, the 0.17-0.34% of the whole bladder malignancy, and the 20-30% of the bladder adenocarcinoma. Yet urachus may be seat of other kinds of benign pathologies characterized by incomplete obliteration of its lumen. Only if the ends of the urachus seal off, a cyst of that body may form and may become quite large, presenting a low midline abdomen mass. Adenocarcinoma may occur in a urachal cyst, particularly at its vescical extremity. Cystis usually have an asymtomatic course. Occasionally these cystis can be discovered during sonographic examination. If the cyst becomes infected, signs of general and local sepsis will develop, sometimes involving the peritoneum. Sometimes, in these cases, it is difficult to diagnose the presence of an adenocarcinoma and, particularly, its cystic variant. By using the common diagnostic instrumental device, we cannot reach a certain diagnosis, essential to perform a correct medical or surgical treatment. The case reported concerns a twenty-five years old man, over and over again examined, complaining of ipo-mesogastric abdominal pain, mild fever, increment of flogosis index and transaminasis, microscopic hematuria and urinal discomfort. Sonographic suprapubic examination, performed during urological consultation, showed an urachal neoplasm. Cystoscopy and TC evaluation didn't permit a certain preoperative diagnosis. A surgical explorative operation was performed and the neoplasm, a part of a bladder dome, omental flap and a part of rectus muscles, were removed. In order to reconstruct the abdominal wall we used a large Polypropilene patch. The hystological report outlined a large urachal cyst, a flogosis and a purulent necrosis invading the surrounding tissue and the peritoneum. The patient was discharged after twenty-five days and he had a good functional performance. In the light of the reported case, the surgical treatment seems to be the best solution before the onset of complications that should expose patients to difficult and demolitive surgical operations and that should protract the hospitalization.

Adenocarcinoma↗
PubMed1997

[Early diagnosis of prostatic carcinoma by random biopsies in 60 patients clinically negative but with PSA greater than 8.9 ng/ml].

60 patients, 64 years old on average, with no evidences of prostatic cancer, but with a PSA level greater than 8.9 ng/ml, have undergone six transrectal systematic sextant biopsies. All patients had no suspicious finding on digital rectal examination. Ultrasound transrectal examinations did not show hypoechoic areas suspected of a prostatic cancer. We used an automatic biopsy gun fitted with an 18 gauge biopsy needle. Three biopsies in each lobe, at the apex, in the midline zone and at the base of the prostate, in the parasaggital plane, was performed. No complications were found during following days. Of the 60 men, with a non suspicious prostate on rectal examination, 12 had prostatic cancer. They had, on average, a PSA level of 10.8 ng/ml. The PSAD level was, on average, of 0.18 and the Gleason score was, on average, of 3.8. The patients who underwent pelvic lymphadenectomy and radical prostatectomy did not have an infiltration of the glans capsule of seminal vesicles and no lymph node metastasis were found. In our study, the digital rectal and ultrasound examination alone would have missed the 23% of prostatic cancers. Therefore, according to the literature, the PSA makes us able to discover prostatic cancer more than the clinical and instrumental evaluation alone. Furthermore the ultrasound examination presents some diagnostic limits. Particularly it is very difficult to detect small cancer arising into the hypoechoic multinodular adenoma of the transition zone. In addition 10-20% of cancers, arising into the peripheral zone, are hysoechoic with the surrounding parenchyma. For that reason, when PSA value is greater then 8.9 ng/ml without clinical or ultrasound evidence of cancer, we recommend to perform six systematic sextant biopsies. At present, the real question is to determine whether this early diagnosis is useful for patients, because there is no certainty of the therapeutic benefit in terms of quantity and quality life.

Adenocarcinoma↗
PubMed1996

Comparison of granisetron, ondansetron, and tropisetron in the prophylaxis of acute nausea and vomiting induced by cisplatin for the treatment of head and neck cancer: a randomized controlled trial.

BACKGROUND: A single-institution, prospective, randomized, open controlled trial was carried out on head and neck cancer patients to compare granisetron (GRA), ondansetron (OND), and tropisetron (TRO) in the prevention of cisplatin-induced acute nausea and vomiting. All patients were chemotherapy-naive and treated with cisplatin on Day 1 (80 to 100 mg/m2). METHODS: One hundred seventeen patients were treated for a total of 463 cycles of cisplatin-based chemotherapy and randomized to receive 24 mg of OND intravenously (i.v.), 3 mg of GRA i.v., or 5 mg of TRO i.v. for the control of acute nausea and emesis. RESULTS: In the GRA group, complete response (CR) was obtained in 119 of 165 cycles (72.1%), major response (MR) in 32 cycles (19.4%), minor response (MiR) in 5 cycles (3%), and a failure (F) in 9 cycles (5.5%). In the OND group, CR was obtained in 110 of 150 cycles (73.3%), MR in 31 cycles (20.7%), MiR in 2 cycles (1.3%), and F in 7 cycles (4.7%). In the TRO group, CR was obtained in 100 of 148 cycles (67.6%), MR in 26 cycles (17.6%), MiR in 15 cycles (10.1%), and F in 7 cycles (4.7%). Major efficacy (CR + MR) was obtained in 151 of 165 cycles (91.5%) for GRA, in 141 of 150 cycles (94.0%) for OND, and in 126 of 148 cycles (85.2%) for TRO. The difference in major efficacy between OND and TRO was statistically significant. When comparing MiR, both GRA and OND were more effective than TRO. No other significant differences were observed among the three antiemetic agents. CONCLUSIONS: Although our results were achieved in an open trial, they show that GRA and OND are equally effective antiemetic agents in the prevention of cisplatin induced acute nausea and vomiting. TRO provides almost the same protection but is not as effective as OND for major efficacy. All three antiemetics can be administered safely to patients undergoing chemotherapy with cisplatin at doses of 80 mg/m2 or more.

Adult↗
PubMed1996

Common subtypes of idiopathic generalized epilepsies: lack of linkage to D20S19 close to candidate loci (EBN1, EEGV1) on chromosome 20.

Hereditary factors play a major role in the etiology of idiopathic generalized epilepsies (IGEs). A trait locus (EBN1) for a rare subtype of IGEs, the benign neonatal familial convulsions, and a susceptibility gene (EEGV1) for the common human low-voltage electroencephalogram have been mapped close together with D20S19 to the chromosomal region 20q13.2. Both loci are potential candidates for the susceptibility to IGE spectra with age-related onset beyond the neonatal period. The present study tested the hypothesis that a putative susceptibility locus linked to D20S19 predisposes to spectra of IGEs with age-related onset from childhood to adolescence. Linkage analyses were conducted in 60 families ascertained through IGE patients with juvenile myoclonic epilepsy, juvenile absence epilepsy or childhood absence epilepsy. Our results provide evidence against linkage of a putative susceptibility gene for four hierarchically broadened IGE spectra with D20S19 assuming tentative single-locus genetic models. The extent of an "exclusion region" (lod scores below-2) varied from 0.5 cM up to 22 cM on either side of D20S19 depending on the trait assumed. These results are contrary to the expectation that a susceptibility gene in vicinity to D20S19 confers a common major gene effect to the expression of IGE spectra with age-related onset from childhood to adolescence.

Chromosome Mapping↗
PubMed1996

Evaluation by multidimensional instruments of health-related quality of life of elderly cancer patients undergoing three different "psychosocial" treatment approaches. A randomized clinical trial.

Our study belongs to the clinical trials in which the health-related quality of life (HQL) evaluation constitutes the primary endpoint. It was carried out with the aim of comparing the impact of three different types of psychological intervention, namely a psychopharmacological treatment alone, the same treatment plus social support carried out by volunteers (SSV) and a third treatment modality including "structured psychotherapy" (autogenous training), on improving the HQL of elderly cancer patients undergoing antineoplastic therapy with symptoms of anxiety and/or depression related to their disease. The eight questionnaires used for HQL evaluation were generally self-rated and multidimensional but unidimensional models were also employed. Seventy-four patients aged over 65 years with either solid tumors in different sites or hematological malignancies, generally in advanced stages (III-IV), were enrolled in the study. Of these patients, 72 (42 men and 30 women, mean age 70.68 years, range 66-85) were evaluable. Our study highlighted the usefulness of the pharmacological therapy (alprazolam + sulpiride) and of other specific ancillary treatments in reducing the incidence of the main HQL-related side-effects of antineoplastic therapy and the superiority of an "integrated" strategy, based both on psychopharmacology and psychosocial interventions, such as SSV with or without structured psychotherapy. The one-way analysis of variance carried out by us did not allow us to draw definitive conclusions about which of the two integrated treatments was to be considered the treatment of choice, as they proved to be almost equally effective.

Aged↗
PubMed1996

Pharmacological preconditioning of ischemic heart disease by low-dose dipyridamole.

Fourteen patients affected with coronary artery disease underwent two consecutive dipyridamole echocardiographic stress tests, in basal conditions and after repeated low doses of intravenous dipyridamole, following the observation that pulse increases in adenosine plasma levels due to repeated intravenous administration of dipyridamole mimic the mechanism of ischemic preconditioning. Echocardiographic, electrocardiographic, haemodynamic parameters, and adenosine plasma levels were measured. After the second test, six patients were completely negative, and in those eight still positive the onset of dyssynergy was delayed.

Aged↗
PubMed1996

Linear multivariate models for physiological signal analysis: theory.

The general linear parametric multivariate modelling concept is presented. This model combines a variety of different kinds of multivariate linear models. The concept of partial spectral analysis is derived from the general model. Some emphasis is laid on the causality demands of the model, and it is shown that the classic strictly-causal structure must be abandoned in order to utilise the modelling in many practical situations. Two special sub-class models are described in detail: the multivariate autoregressive model and the multivariate dynamic adjustment model. Furthermore, time-varying modelling is considered. The modelling of the real system is presented on a general level as a system identification cycle. The application of the methods to real physiological data is presented in the companion paper.

Data Collection↗
PubMed1996

Linear multivariate models for physiological signal analysis: applications.

Some applications of linear multivariate modelling methods in the analysis of physiological signals are presented. These applications illustrate the methods in the analysis of cardiovascular dynamics, which has been one of the main application fields of the multivariate modelling during the last ten years. It is demonstrated that physiologically meaningful information about the causal interactions in the cardiovascular system can be drawn from the routinely available clinical signals. Both static and dynamic conditions are considered.

Humans↗
PubMed1996

Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor alpha 1 and gamma 2 subunit gene cluster on chromosome 5.

Hereditary factors play a major role in the etiology of idiopathic generalized epilepsies (IGEs). The pivotal function of ionotropic gamma-aminobutyric acid type A receptors (GABRs) in inhibitory neurotransmission in the mammalian central nervous system suggests that they may be involved in epileptogenesis and genetic predisposition to IGEs. Dinucleotide repeat polymorphisms associated with the human GABAA receptor alpha 1 (GABRA1) and gamma 2 subunit (GABRG2) gene cluster on chromosome 5q32-q35 offer the opportunity to test whether these candidate genes confer susceptibility to IGEs. Our linkage analyses in 63 families ascertained through IGE patients with either juvenile myoclonic epilepsy, juvenile absence epilepsy or childhood absence epilepsy do not support the hypothesis that variants within the GABRA1 and GABRG2 gene cluster contribute a frequent major gene effect to the expression of the common familial IGEs.

Base Sequence↗
PubMed1996

Lack of linkage between idiopathic generalized epilepsies and the gene encoding the neural cell adhesion molecule.

Hereditary factors play a major role in the etiology of idiopathic generalized epilepsies (IGEs). The frequent neuropathological occurrence of microdysgeneses in the brain of IGE patients implies that genes regulating neural migration and cell adhesion might be involved in epileptogenesis of age-related generalized seizures. Our present linkage study tested the hypothesis that DNA sequence variants associated with the gene encoding the neural cell adhesion molecule (NCAM) confer genetic susceptibility to IGE traits in 57 families ascertained through patients with either juvenile myoclonic epilepsy, juvenile or childhood absence epilepsy. Our consistently negative results provide evidence against a common major effect of NCAM gene variants to the expression of IGEs with age-related onset from childhood to adolescence.

Adult↗
PubMed1996

Pre- and postprandial pyridostigmine and oxiracetam effects on growth hormone secretion in anorexia nervosa.

Previous studies have shown that food ingestion is not capable of inhibiting the GHRH-induced GH release in anorexia nervosa, at variance with what is observed in normal subjects. Moreover, a cholinergic alteration has been hypothesized in this disorder. In a group of 24 anorectic patients in a stabilized phase of the illness, we tested, before and after a standard meal, the GH response to GHRH alone and after pre-treatment with pyridostigmine, an inhibitor of acetylcholinesterase, and, on a different day, with oxiracetam, which stimulates the central cholinergic neurones. The GH response to GHRH was significantly increased by both drugs in a fasting state. The postprandial response was not significantly modified by pyridostigmine nor by oxiracetam. Neither of these compounds was able to enhance the postprandial GH 'paradoxical' response to GHRH in anorectic patients. The lack of effect of both groups postprandially also suggests a suppression of somatostatinergic activity.

Acetylcholinesterase↗
PubMed1996

Ultrastructural changes during adhesion and migration of pre-B lymphoid leukaemia cells within bone marrow stroma.

The ultrastructural changes in leukaemic cells on initial contact with, and during migration into, layers of bone marrow stroma in vitro were examined in a variety of types of acute leukaemia and leukaemic cell lines. Bone marrow fibroblasts (BMF) were grown on polycarbonate microporous membranes, and acute leukaemia cells added to cultures and allowed to adhere to BMF for variable periods of time before fixation. Acute lymphoblastic leukaemia (ALL) blasts showed rapid development of surface membrane microvilli on contact with BMF layers. ALL blasts, and the pre-B ALL cell line NALM-6, showed evidence of movement in to the BMF layer within 15-30 min, with intrusion of extended cytoplasic processes into gaps between BMF cytoplasm. ALL cells were frequently seen within the layers of fibroblasts after 30 min incubation, and had pronounced morphological changes, with pseudopodia and attenuated and elongated microvilli interdigitating with the surface of fibroblasts or with strands of extracellular matrix material. Changes were also noted in the surface membrane of BMF adjacent to ALL cells, with invagination of the cytoplasmic membrane and formation of micropits. In contrast to the migratory behaviour of pre-B ALL cells, migration was not observed with acute myeloid leukaemia cells or other leukaemic cell lines. These cells showed membrane activation, with variable degrees of microvillous formation, and in some cases insertion of pseudopodia into BMF layers, but migration was not observed. Ultrastructural immunogold labelling was carried out to determine the localization of leukaemic adhesion molecules and their ligands on BMF. This demonstrated that beta 1 integrins were largely localized to the contact surfaces of both ALL blasts and fibroblasts, with VCAM-1 expressed only on the surface of BMF. These observations confirm the specificity of migratory behaviour for pre-B leukaemic cells, and indicate that a complex pattern of surface and intracellular events mediate this process, including the expression of beta 1 integrins and VCAM-1 at the sites of insertion of leukaemic cells between fibroblast margins.

Acute Disease↗
PubMed1996

Enumeration of viable bacteria in the marine pelagic environment.

The low percentage of living bacteria commonly obtained when comparing viable counts with total direct counts in seawater could be due more to inappropriate techniques for appreciating the growth ability of living cells than to unadapted culture conditions. The most-probable-number counts in filtered seawater cultures and the microscopic counts of 4(prm1),6-diamidino-2-phenylindole (DAPI)-stained aggregate-forming units grown on black polycarbonate filters appeared significantly correlated to the direct counts. Both these techniques show that in the superficial and intermediate water masses, the living cells may constitute an important (frequently higher than 20%) but highly variable part of the total populations. These viable counts appear more realistic than the conventional CFU counts, which provide only 0.001 to 0.2% of the total counts.

Journal Article↗