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Biomedical subjects

M Giudici

Publications and source records attributed to M Giudici.

At least 19 recordsLinked to original sources

Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs.

OBJECTIVES: To describe the cytogenetic and FISH characterization of a prenatally diagnosed de novo complex chromosome rearrangement (CCR), showing the involvement of four chromosomes and six breakpoints, and review the literature concerning prenatally detected CCRs in order to obtain insights into addressing karyotype-phenotype correlations in prenatal genetic counseling. METHODS: Conventional protocols were used to set up cultures and chromosome preparations. Commercial and homemade probes were used for the FISH analyses. RESULTS: An apparently balanced de novo t(4;10;20) was prenatally identified by means of cytogenetic analysis. FISH revealed a rearrangement mediated by six breakpoints and the insertion of chromosome 8 material within the 4q region. The pregnancy was interrupted. The fetus showed malformations and anomalous cortical neuron migration. The assembled list of 20 prenatally detected CCRs points to the preferential involvement of chromosomes 4, 6 and 14. The involvement of chromosome 20 is described here for the first time. CONCLUSIONS: FISH analysis is essential for the accurate definition of a complex rearrangement. Phenotype description of fetuses carrying CCRs investigated by means of molecular cytogenetic techniques may contribute to improving and personalizing genetic counseling in prenatal diagnosis.

Abnormalities, Multiple↗

Dynamics of periodically forced semiconductor laser with optical feedback.

Recently it was proposed that semiconductor lasers with optical feedback present a regime where they behave as noise driven excitable units. In this work we report on an experimental study in which we periodically force one of these lasers and we compare the results with the solutions of a simple model. The comparison is based on a topological analysis of experimental and theoretical solutions.

Journal Article↗

Prevention of chronic atrial fibrillation by pacing in the region of Bachmann's bundle: results of a multicenter randomized trial.

INTRODUCTION: Atrial pacing locations that decrease atrial activation and recovery time may be preferable in patients with a history of atrial arrhythmias. This multicenter prospective randomized study compared the efficacy of Bachmann's bundle (BB) region pacing to right atrial appendage (RAA) pacing in patients with recurrent paroxysmal atrial fibrillation (AF). METHODS AND RESULTS: Patients with standard pacing indications (n = 120, 70+/-11 years) were randomized to atrial pacing in either the RAA (n = 57) or BB region (n = 63). Implantation time was similar between groups (88+/-36 min [n = 38] for BB vs 83+/-34 min [n = 34] for RAA). No differences in pacing threshold, impedance, or sensing between BB and RAA groups were observed at implantation or after the 6-week, 6-month, and 1-year follow-up periods. Average length of follow-up was 12.6+/-7.4 months for the BB group and 11.8+/-8.0 months for the RAA pacing group. The percentage of atrial pacing was similar between groups (61%+/-34% RAA vs 65%+/-31% BB at 2 weeks after implant). BB atrial pacing significantly (P < 0.05) shortened p wave duration compared with sinus rhythm (123+/-21 msec vs 132+/-21 msec, n = 50) 2 weeks after implant. In contrast, p wave duration was longer during atrial pacing from the RAA position compared with sinus rhythm (148+/-23 msec vs 123+/-23 msec, n = 37). Additionally, p wave duration was shorter during BB pacing than during RAA pacing. Patients with BB pacing had a higher (P < 0.05) rate of survival free from chronic AF (75%) compared with patients with RAA pacing (47%) at 1 year. CONCLUSION: BB region pacing is safe and effective for attenuating the progression of AF.

Aged↗

Experimental evidence of coherence resonance in an optical system

Experimental evidence of coherence resonance in an optical system is reported. We show that the regularity of the excitable pulses in the intensity of a laser diode with optical feedback increases when adding noise, up to an optimal value of the noise strength. Both phase and amplitude fluctuations of the pulses play a relevant role in the dynamics of the system. We introduce the joint entropy of the two variables to generalize the indicator of coherence, and we put in evidence the mechanism of destruction of the excitable orbit after the resonance.

Journal Article↗

The Ablate and Pace Trial: a prospective study of catheter ablation of the AV conduction system and permanent pacemaker implantation for treatment of atrial fibrillation. APT Investigators.

BACKGROUND: The Ablate and Pace Trial (APT) prospectively assessed the effects of catheter ablation of the AV conduction system and permanent pacemaker implantation on health-related quality of life, survival, exercise capacity, and ventricular function in 156 patients with symptomatic atrial fibrillation. METHODS: All patients referred for catheter ablation and permanent pacemaker implantation because of medically-refractory atrial fibrillation at 16 centers were screened for enrollment in a prospective registry. Baseline assessment prior to ablation included measurement of quality of life, including the Health Status Questionnaire, the Quality of Life Index and the Symptom Checklist: Frequency and Severity. Exercise capacity was assessed with metabolic treadmill exercise testing and ventricular function was quantitated with echocardiography. The quality of life instruments, exercise capacity, and echocardiography were repeated at 3 and 12 months after catheter ablation. RESULTS: The APT population included 90 men and 66 women (66.1 +/- 11.5 years of age) with either chronic (n = 70), recurrent (n = 31), or paroxysmal atrial fibrillation (n = 55). Structural heart disease was present in 78.2% of patients. Successful ablation of AV conduction was achieved in 155 of 156 patients (99.4%). Survival at 1 year was 85.3%, with 5 of 23 deaths being sudden cardiac deaths. Survival over the first year of follow-up was significantly lower for patients with a baseline left ventricular ejection fraction (LVEF) < 0.45 (0.73) than for patients with a LVEF > or = 0.45 (0.88, p = 0.03). The NYHA functional class improved from 2.1 at baseline to 1.8 at 3 months and 1.9 at 12 months of followup (p = 0.0001). Significant improvement in quality of life scores were noted for all 8 subscales of the Health Status Questionnaire, for the overall rating of the Quality of Life Index, the Health and Function subscales; Arrhythmia-related symptoms were markedly reduced as measured by the Symptom Checklist: Frequency and Severity scale. The mean LVEF improved from 0.50 +/- 0.20 at baseline to 0.54 +/- 0.20 at 3 months (p = 0.03). The LVEF 12 months after ablation was 0.52 +/- 0.20, not statistically different from baseline. Individuals with reduced systolic function at baseline had the greatest improvement, from LVEF 0.31 +/- 0.20 at baseline to 0.41 +/- 0.20 at 3 months and 0.41 +/- 0.30 at 12 months (p = 0.0001). There were no significant changes in treadmill exercise duration (10.0 +/- 4.3 min at baseline and 11.6 +/- 3.6 min at 12 months) or VO2max (1467 +/- 681 ml O2 min baseline and 1629 +/- 739 ml O2 min at 12 months). CONCLUSIONS: Catheter ablation of the AV conduction system and permanent pacemaker implantation were associated with improved quality of life and left ventricular function in this population of highly symptomatic patients with atrial fibrillation refractory to medical therapy.

Aged↗

[Audit of histopathological activities in the laboratories of 7 general hospitals. 1. Types of resources and quantitative aspects of the workload].

Following a major reorganization of the National Health Service, competition for resources will depend to a great extent on the quality of the service offered, and audit will be of increasing importance. The present investigation deals with the quantitative aspects of the histopathology workload. A retrospective analysis of the biopsy handling of 1,000 consecutive cases was conducted in each histopathology lab of seven general hospitals. The data collected included information on specimen type, diagnosis, block/section/stain details for each specimen, as well as information about human resources, total workload and technical equipment. Among the seven labs, the histopathology workload ranged between 6,600 and 15,600 cases/year. The workload per person/year ranged between 1,400 and 2,600 (mean 1,900) for pathologists, between 800 and 3,000 (mean 1,500) for technicians, and between 2,200 and 8,300 (mean 4,400) for secretarial staff. The prevalence of biopsy fragments (endoscopic, endometrial curettage , etc.), "small" surgery (skin, appendix, gallbladder, etc.) and surgery was, respectively, between 42 and 50%, 34 and 47%, 9 and 21%. In all labs but one, 80% of cases were within 1-3 blocks; the seven labs had a mean of blocks/case ranging from 1.8 to 4.0 (total mean = 2.8). Differences in performing special stains were astonishing: one lab performed special stains in about 40%, and another in only 0.6% of cases (mean of the seven labs = 15%). Finally, the labs performed immunohistochemical stains within a range of 2.7-8% of cases (mean of the seven labs = 4.6%). The data we have collected provided baseline information on the laboratory running, and this is likely to be an integral part of laboratory administration in the near future.

Biopsy↗

[Audit of histopathology activities at the pathology departments of 7 general hospitals. 2. Response time].

A retrospective analysis of 1,000 consecutive cases was conducted in each histopathology lab of seven general hospitals. The collected information included the date of specimen withdrawal (six labs only), receipt in the laboratory, and reporting. Time intervals between withdrawal and receipt. Two labs, received 3/4 of cases the same day, while the others had a very low prevalence of receipt. All labs but one, received 80-90% of cases within 48 hours. In one lab, 17% of cases arrived five days after from the withdrawal. Time intervals between receipt and reporting. The mean observed in the seven labs ranged from 3.1 to 6.1 days. Two labs were able to report within 24 hours, but this occurred only in 6% of their cases. The reporting prevalence within three days ranged between 5 and 64%, with a mean for the seven labs of 37%. The reporting prevalence within 6 days was about 95% (four labs), 60-70% (two labs) and 20% (one lab). All labs but one reported 95-100% of cases within ten days. Time intervals between withdrawal and reporting. Our labs were not able to report within 24 hours from the withdrawal (frozen sections excluded). The reporting prevalence within 2-3 days was about 35-40% (three labs), 16% (one lab), 2% (two labs), and within six days it was about 90% (three labs), and 61%, 38% and 14% (the remaining). These latter reported 95% of their cases within twenty days. The turnaround times we found are unsatisfactory. Probably, there are many sources of delay, and these are multifactorial. However, a major factor involved in these delays seems to be related to poor arrangements in the allocation and managing of human resources.

Hospitals, General↗

Elective one-stage abdominal operations after percutaneous catheter drainage of pyogenic liver abscess.

During the past 10 years, 15 patients have had percutaneous catheter drainage (PCD) of pyogenic liver abscesses (PLA) at a major teaching hospital. Five PLA were related to biliary tract disease, two were secondary to colonic diverticulitis, two developed after abdominal surgery, and the remaining were associated with hepatic trauma, gastric ulcer, Crohn's ileitis, and colon cancer. Two abscesses were cryptogenic. Mean diameter of PLA was 8 cm and ranged from 2-14 cm. Three patients had multiple PLA. All patients were initially treated by PCD without major complications. However, one patient required a second PCD after developing a recurrent abscess. Fever and leukocytosis defervesced at a mean 3.6 days and 7 days, respectively, after PCD. Seven of the 15 patients subsequently had one-stage elective abdominal operations for treatment of diseases underlying PLA including two cholecystectomies, two colon resections, one gastrectomy, one ileostomy closure, and one laparotomy for unresectable gall bladder cancer. There were no postoperative complications. These results demonstrate that PLA are best treated by using PCD as primary treatment with surgical drainage reserved for patients who do not respond clinically to PCD. The need for operative treatment in diseases underlying PLA should not deter use of PCD as primary treatment.

Abdomen↗

Melnick-Needles syndrome. Four new cases.

Melnick-Needles syndrome is a rare connective tissue disorder producing somatic abnormalities with characteristic radiographic features. There are less than 35 documented cases reported to date. We present four new cases of Melnick-Needles Syndrome, one of which is the first reported Asian-ancestry patient. Two girls are daughters of one of Needle's original patients from family #2. Two others, from unrelated non-affected families, probably represent new mutations. All have characteristic radiographic features of the disorder.

Adolescent↗

[Intrauterine torsion of the spermatic cord].

Description of a clinical case diagnosed in the first hours of life in apparently well newborn. Diagnostic suspicion by palpation and transillumination. Absence of any subjective sign. Inspective symptom the light scrotal swelling. The neonate received an immediate surgical exploration with subsequent orchiectomy.

Genital Diseases, Male↗

Sex steroid-binding protein interacts with a specific receptor on human premenopausal endometrium membrane: modulating effect of estradiol.

Sex steroid-binding protein receptor was detected on membranes prepared from human premenopausal endometrium. The binding of sex steroid-binding protein to membranes was specific, saturable, and high affinity. Scatchard analysis showed the presence of two binding sites at different affinities. The addition of estradiol (10(-8) M) did not produce any inhibition of binding; indeed, it resulted in a modification of binding characteristics. The demonstration of sex steroid-binding protein receptor on membranes of human premenopausal endometrium indicates that the expression of receptor on membranes is not an effect of estrogen over stimulation on target tissues. Estradiol could act as a modulating factor of the binding, probably reflecting the sensitivity of tissues to different steroids.

Cell Membrane↗

Hereditary long QT syndrome associated with cardiac conduction system disease.

This report describes the cardiac conduction abnormalities, detected by invasive electrophysiological study, in two identical siblings with symptomatic congenital long QT syndrome. Both patients had evidence of intra-Hisian conduction delay in response to programmed atrial stimulation and pacing induced infranodal block was seen in one of the two patients. The response of the observed conduction delay to autonomic interventions is described. The observed electrophysiologic abnormalities are consistent with previously reported pathological findings and document the association of functional conduction system disease with congenital QT prolongation.

Adolescent↗

The hydrogeological role of an aquitard in preventing drinkable water well contamination: a case study.

Groundwater pollution has become a worrisome phenomenon, mainly for aquifers underlying industrialized areas. In order to evaluate the risk of pollution, a model of the aquifer is needed. Herewith, we describe a quasi-tridimensional model, which we applied to a multilayered aquifer where a phreatic aquifer was coupled to a confined one by means of an aquitard. This hydrogeological scheme is often met in practice and, therefore, models a number of situations. Moreover, aquitards play and important role in the management of natural resources of this kind. The model we adopted contains some approximations: the flow within the aquifers is assumed to be horizontal, whereas leakage is assumed vertical. The effect of some wells drilled in these aquifers is also taken into account. In order to evaluate the leakage fluxes that correspond to different exploitation conditions, we numerically solve a system of quasilinear and time-dependent partial differential equations. This model has been calibrated by the hydrogeological data from a water supply station of the Milan Water Works, where water is polluted by some halocarbons. Our simulations account for several experimental facts, both from the hydrogeological and hydrogeochemical viewpoints. Maxima of computed downward leakage rates are found to correspond with measured pollutant concentration maxima. Other results show how the aquitard can help in minimizing the contamination of drinkable water.

Computer Simulation↗

[Primary gastric non-Hodgkin's lymphomas. Presentation of 8 cases].

Eight cases of primary gastric lymphomas encountered in a series of 164 cases of extranodal NHL are analysed. The clinical aspects, the modality of onset and diffusion of the lymphoma, its macroscopic and histopathological features and the different therapeutic approaches are discussed. In particular while the distinction between localised and diffuse forms remains valid, it is pointed out that it is not always possible to treat the former by gastric resection, the latter by chemotherapy. In fact the choice of treatment will often be influenced by the patient's age, the presence of a bulk disease, the inoperability of the lymphoma and its degree of malignancy.

Aged↗

[Aspecific granulomatous prostatitis. Our experience].

The clinical and anatomopathological features of 7 personally observed cases of granulomatous prostatitis are described. The possibility of confusion between this pathology and cancer of the prostate is pointed out. This is particularly the case when the entire gland is inflammed and only bioptic examination will confirm the diagnosis. The symptoms mostly related to the cervicourethral obstruction, the diagnostic procedure and the treatment, prevalently medical, adopted in each are described.

Adult↗

[Prognostic value of the detection of ABO surface antigens by indirect immunofluorescence technic in transitional tumors of the bladder].

Experience is described in the use of indirect immunofluorescence to reveal ABO surface antigens in transitional tumours of the bladder on histological preparations from 50 patients given endoscopic resection or demolitive surgery. After an adequate period of follow-up (mean 13.7 months) of the same patients it is concluded that the prognostic validity of the survey still fails to offer sufficient specificity for guaranteed support of therapeutic decisions.

ABO Blood-Group System↗