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Biomedical subjects

A Ferrari

Publications and source records attributed to A Ferrari.

At least 91 records · Page 5Linked to original sources

No evidence of WT1 involvement in a Burkitt's lymphoma in a patient with Denys-Drash syndrome.

BACKGROUND: We previously reported the case of a patient affected with Denys-Drash syndrome (DDS), who developed disseminated EBV-related Burkitt's lymphoma (BL) after kidney transplantation. Here, we describe the molecular characterisation of the WT1 gene in the constitutional and tumour DNA of this patient. PATIENTS AND METHODS: WT1 exons 2 to 10 were sequenced in constitutional and tumour DNAs. By Southern blotting the latter was also investigated for the presence of gene rearrangements. Gene expression analysis in tumour cells was performed by reverse transcriptase-polymerase chain reaction (RT-PCR). RESULTS: A germline missense mutation affecting one of the zinc finger domains of the gene, and previously reported in other DDS cases, was observed. No alterations of the constitutionally wild-type WT1 allele and no expression of the gene were observed in BL cells. A small group of BLs from other paediatric patients showed a variable expression of WT1. CONCLUSIONS: Our findings indicate that WT1 is unlikely to be involved in the onset of BL in our case. However, a possible role of the gene in at least a subset of these lymphoproliferative diseases may be suggested.

Abnormalities, Multiple↗

Secondary haematological neoplasm after treatment of adult acute lymphoblastic leukemia: analysis of 1170 adult ALL patients enrolled in the GIMEMA trials. Gruppo Italiano Malattie Ematologiche Maligne dell'Adulto.

Between 1983 and 1994 the incidence of secondary haematological neoplasms (SHM) was evaluated in 1170 new cases of ALL enrolled in the GIMEMA trials. Of the 942 patients who achieved complete remission (CR); seven developed a SHM: four AMLs and three NHLs. The median latency from onset of ALL and of secondary haematological neoplasm was 69 months for AML and 61 months for NHL. Three out of four patients with secondary AML were unresponsive to the new chemotherapy and died, whereas the fourth patient achieved a new CR. Among the three NHL cases, two patients are presently alive in CR, whereas the third patient was refractory to chemotherapy and died. The relative risk of haematological malignancy among the GIMEMA trials population, as compared to that of the Italian Cancer Registries, was 15.25-fold higher, and the actuarial estimated cumulative proportion of ALL patients with a secondary haematological neoplasm at 5 and 10 years were 0.59% and 3.63% respectively. The incidence of adult ALL who developed a SHM, although apparently lower than in the paediatric ALL series, was higher when compared to the normal population. The difference between paediatric and adult ALL is probably due to the lack of craniospinal radiotherapy and to the lower doses of epipodoxiphyllotoxins used in adult trials. The higher percentage of childhood ALL with a prolonged event-free survival could result in an increase of secondary neoplasms in these cases, which suggests that secondary haematological neoplasms in adult ALL patients are real, although rare, events.

Adolescent↗

Endogenous dopaminergic activity in Child-Pugh A cirrhosis: potential role in renal sodium handling and in the maintenance of clinical compensation.

BACKGROUND: We studied the main determinants of aldosterone secretion in a group of 20 patients with biopsy-proven Child-Pugh A cirrhosis without previous ascites or diuretic consumption. METHODS: We evaluated the plasma levels of adrenocorticotrophic hormone (ACTH), active renin and aldosterone (both supine at 07.00 h and after 30 min of upright posture),and active renin and aldosterone responses 30 min and 60 min after the administration of metoclopramide, a dopamine DA2 antagonist (10 mg e.v.). Nine normal subjects were also submitted to the metoclopramide stimulation test. RESULTS: Compared with control subjects, the patients showed significantly greater incremental aldosterone responses both 30 min and 60 min after metoclopramide (+30 min: 157.5+/-73.3 vs. 83.5+/-32.2 pg mL(-1), P< 0003; +60 min: 142.1+/-87.2 vs. 36.8+/-39.0 pg mL(-1), P < 0-001). We found significant positive correlations between amplitude of aldosterone response 30 min after metoclopramide and 24-h urinary fractional excretion of sodium (r=0.61, P < 0.01) and basal morning aldosterone levels (r=0.69, P < 0.001). CONCLUSIONS: The higher incremental aldosterone responses observed after metoclopramide in cirrhotic patients are expressions of increased dopaminergic activity in these patients compared with control subjects. Moreover, the correlation we found between the degree of dopaminergic activity and 24-h urinary fractional excretion of sodium suggests a role for endogenous dopamine as a relevant mediator of natriuresis in cirrhosis, at least in patients with compensated disease.

Adrenocorticotropic Hormone↗

Non-variceal upper gastrointestinal bleeding and Forrest's classification: diagnostic agreement between endoscopists from the same area.

BACKGROUND AND STUDY AIMS: The lack of uniformity in defining the stigmata of hemorrhage in patients with bleeding ulcers is suggested by the wide range among published studies in prevalence and rebleeding rates for the same stigmata. Moreover there is, in published trials of endoscopic hemostasis, little standardization of definitions of stigmata of hemorrhage. The aim of this study was to assess the interobserver agreement among endoscopists from the same area (Piedmont and Valley of Aosta). PATIENTS AND METHODS: A workshop for 47 expert endoscopists was organized in order to evaluate their agreement in the diagnosis of stigmata of recent hemorrhage, according to Forrest's classification. During the meeting 25 videotapes from endoscopic examinations of patients with recent non-variceal bleeding were shown to the 47 endoscopists, who were asked to classify every lesion. RESULTS: The overall and beyond chance interobserver agreement was calculated by means of the kappa statistic. The overall agreement among endoscopists was highly significant (p < 0.001, kappa=0.60), while the beyond chance agreement varied from excellent to good for lesions with active bleeding (kappa=0.76 and kappa=0.61 for FIA and FIB lesions respectively), whereas for lesions with stigmata of recent hemorrhage kappa varied from 0.44 to 0.49. CONCLUSIONS: These data suggest the need for better knowledge of endoscopic criteria, in order to evaluate the results of endoscopic therapy and to assess new treatments.

Education↗

Feto-neonatal ultrasonography to detect renal abnormalities: evaluation of 1-year screening program.

To determine the accuracy of antenatal renal pelvis measurement as a screening tool for renal anomalies we reviewed the antenatal ultrasounds performed at our institution over 1 year. Renal pelvis dilation was found in 3.8% of pregnancies followed by our obstetrics department. In nine (17.6%) infants renal anomalies were detected after birth, the remaining cases remained unchanged or resolved over a 1-year postnatal follow-up. In our series dilations of less than 10 mm in utero resolved in the first months after birth while dilations greater than 15 mm were all associated with malformations of the genitourinary tract. The choice of the most appropriate follow-up for dilations between 10 and 15 mm remains an issue because these dilations can herald renal anomalies.

Dilatation, Pathologic↗

Polycystic ovary syndrome: anomalies in progesterone production.

The underlying cause of anovulation and miscarriage in polycystic ovary syndrome (PCOS) is unknown. Progesterone may play an important role in oocyte fertilization and embryo implantation. Therefore, in this study we analyse the endocrine function of luteinizing granulosa cells to synthesize progesterone in vivo and in vitro in PCOS and normal patients participating in an in-vitro fertilization programme. Human luteinizing granulosa cells were obtained from 10 patients with normal ovaries (controls) and 10 patients with PCOS by follicular aspiration of individual follicles of each patient and pooled in an attempt to obtain three groups: cells from follicle sizes < or =10,>10< or =15 and > or =16. Serum concentrations of oestradiol and progesterone on the day of human chorionic gonadotrophin (HCG) injection were significantly higher (P < 0.01 and P < 0.05) in PCOS patients than in controls. After HCG stimulation, in-vitro progesterone production was enhanced in granulosa cells of the control group and concentrations increased with follicular size as expected. However, the concentration of progesterone of PCOS patients did not increase with follicular size and there was a significant difference between normal and PCOS groups in follicles >10< or =15 mm (P < 0.05) and > or =16 mm (P < 0.01). Oestradiol production was increased in follicles > or =16 mm in both groups, although this did not reach significance. In summary, it seems that PCOS granulosa cells demonstrate an abnormal capacity to synthesize progesterone in vivo and in vitro. The understanding of granulosa cell function in PCOS may explain the anovulation and miscarriage that occurs in these patients.

Abortion, Spontaneous↗

Endoscopic sphincterotomy for stones by experts is safe, even in younger patients with normal ducts.

OBJECTIVE: To provide current information on the risks of endoscopic sphincterotomy for stone. SUMMARY BACKGROUND DATA: In recent years (since the popularity of laparoscopic cholecystectomy), endoscopic sphincterotomy has been used increasingly for the management of bile duct stones in relatively young and healthy patients. The validity of this trend has been questioned using data on short-term complications derived from earlier decades that involved more elderly and high-risk patients. METHODS: Seven academic centers collected data prospectively using a common database. Complications within 30 days of the procedures were documented by standard criteria. RESULTS: Of 1921 patients, 112 (5.8%) developed complications; two thirds of these events were graded as mild (<3 days in hospital). There was no evidence of increased risk in younger patients or in those with smaller bile ducts. There was only one severe complication and there were no fatalities in 238 patients age <60, with bile duct diameters of <9 mm. CONCLUSION: Sphincterotomy for stones can be performed very safely by experienced endoscopists.

Age Factors↗

Intravenous lipid emulsions are the major determinant of coagulase-negative staphylococcal bacteremia in very low birth weight newborns.

BACKGROUND: Intravenous lipid emulsions and the i.v. catheters through which they were administered were the major risk factors for nosocomial coagulase-negative staphylococcal (CONS) bacteremia among newborns in our neonatal intensive care units a decade ago. However, medical practice is changing, and these and other interventions may have different effects in the current setting. OBJECTIVES: We determined the independent risk factors for CONS bacteremia in current very low birth weight newborns after adjusting for severity of underlying illness. METHODS: We surveyed 590 consecutively admitted newborns with birth weights < 1500 g hospitalized in 2 neonatal intensive care units and conducted a case-control study in a sample of 74 cases of CONS bacteremia and 74 pairs of matched controls. Adjusted relative odds of bacteremia were estimated for a number of attributes and therapeutic interventions in 2 time intervals before CONS bacteremia: any time before bacteremia and the week before bacteremia. RESULTS: Using conditional logistic regression to adjust for indicators of severity of illness, two procedures were independently associated with subsequent risk of CONS bacteremia at any time during hospitalization: i.v. lipids, odds ratio (OR) = 9.4 [95% confidence interval (CI) 1.2 to 74.2]; and any surgical or percutaneously placed central venous catheter, OR = 2.0 (95% CI 1.1 to 3.9). Considering only the week immediately preceding bacteremia, the independent risk factors were: mechanical ventilation, OR = 3.2 (95% CI 1.3 to 7.6); and short peripheral venous catheters, OR = 2.6 (95% CI 1.0 to 6.5). CONCLUSIONS: During the last decade exposure to i.v. lipids any time during hospitalization has become an even more important risk factor for CONS bacteremia (OR = 9.4). Of these bacteremias 85% are now attributable to lipid therapy. In contrast the relative importance of intravenous catheters as independent risk factors has declined. Mechanical ventilation in the week before bacteremia has emerged as a risk factor for bacteremia.

Bacteremia↗

Treatment with a gonadotrophin releasing hormone agonist before hysterectomy for leiomyomas: results of a multicentre, randomised controlled trial.

OBJECTIVES: To ascertain whether uterine shrinkage induced by a gonadotrophin releasing hormone agonist before hysterectomy for fibroids increases the possibility of a vaginal procedure. DESIGN: A multicentre, prospective, randomised, controlled study. PARTICIPANTS: One hundred and twenty-seven premenopausal women with a uterine volume of 12 to 16 gestational weeks. INTERVENTIONS: Twelve weeks of triptorelin depot treatment before hysterectomy or immediate surgery. MAIN OUTCOME MEASURES: Number of vaginal and abdominal hysterectomies, operating time, blood loss, degree of difficulty of the procedure, perioperative serum haemoglobin and haematocrit levels, hospital stay, and patients' overall satisfaction with treatment. RESULTS: After randomisation, four women withdrew from the study, leaving 60 women in the triptorelin arm and 63 in the immediate surgery arm. At baseline evaluation a vaginal hysterectomy was indicated in seven women allocated to pre-operative medical therapy (12%), and in 10 of those allocated to immediate surgery (16%). Clinical assessment after the 12-week GnRH agonist course showed that abdominal hysterectomy was no longer indicated in 25/53 women (47%) as a vaginal procedure appeared appropriate. Thus the overall rate of indication for a vaginal procedure in the pre-operative medical treatment arm was 32/60 cases (53%), with a between-group difference of 37% (95% CI, 26% to 51%; chi2(1) = 19.18, P < 0.0001; OR 6.06; 95% CI, 2.60 to 14.10). Pre- and post-operative serum haemoglobin and haematocrit levels were significantly higher in the GnRH agonist than in the immediate surgery arm. No appreciable difference was observed between the groups in the other intra- and post-operative variables, including patients' satisfaction. CONCLUSIONS: Pre-operative GnRH agonist therapy increased the rate of vaginal hysterectomy in selected women with fibroids and uterine volume of 12 to 16 gestational weeks.

Adult↗

Beneficial hemodynamic effects of dipyridamole on portal circulation in cirrhosis.

OBJECTIVE: Dipyridamole is a vasodilator that inhibits the cellular uptake of adenosine, which physiologically reduces the resistance to hepatic arterial flow inside the liver. This study aims at assessing the acute effect of dipyridamole on functional liver plasma flow (measured as the extrarenal sorbitol clearance) and on the Doppler US Congestion Index of the portal vein (the ratio between the cross-sectional area of this vein and the mean velocity of portal flow), which correlates with the severity of portal hypertension. METHODS: We have determined the extrarenal sorbitol clearance (14 cases) and the Congestion Index (seven cases) before and at 30, 60, and 90 min after the oral administration of 25 mg dipyridamole in patients with liver cirrhosis. We also measured the effect of dipyridamole on functional liver plasma flow in six healthy subjects. RESULTS: Dipyridamole increased the extrarenal sorbitol clearance in controls (+17%, p < 0.01) and in cirrhotic patients (+15%, p < 0.01). The drug decreased the portal Congestion Index in all patients, averaging -24% (p < 0.05) 90 min after its oral administration. CONCLUSIONS: This result was due both to a mean decrease of the portal sectional area and to a mean increase in portal flow velocity. In conclusion, these data suggest that dipyridamole should decrease the vascular resistance to portal flow in cirrhosis; this effect may be mediated by an adenosine-dependent vasodilation in the intrahepatic site or along the portosystemic collaterals.

Administration, Oral↗

Antenatal molecular diagnosis of X-linked ichthyosis by maternal serum screening for Down's syndrome.

A case of X-linked ichthyosis diagnosed antenatally by molecular analysis of fetal DNA is described. The diagnosis was made at 16 weeks gestation, following the finding of a maternal serum unconjugated estriol level lower than 0.1 MoM when performing a triple test. Fetal DNA was obtained from cultured amniocytes; two specific regions were amplified by polymerase chain reaction at 5' and 3' ends of the steroid sulfatase (STS) gene on Xp22.3 region. Analysis showed complete deletion of the STS gene on the distal tip of the X-chromosome short arm.

Amniocentesis↗

Effect of copolymer-1 on serial gadolinium-enhanced MRI in relapsing remitting multiple sclerosis.

We examined the effect of Copolymer-1 (Cop1) on magnetic resonance (MR) imaging changes in 10 patients with relapsing-remitting multiple sclerosis (RRMS). Monthly gadolinium (Gd)-enhanced MR imaging was performed for 9 to 27 months in the pretreatment period followed by 10 to 14 additional months during Cop1 treatment. MR images were evaluated by two radiologists (F.S. and R.C.P.) masked to the scan date. We found a 57% decrease in the frequency of new Gd-enhancing lesions and in the mean area/month of new Gd-enhancing lesions in the Cop1 treatment period compared with the pretreatment period (0.92 versus 2.20 lesions per month and 22 mm2 versus 43 mm2 area/month; p = 0.1, Wilcoxon signed rank test). Percentage change in lesion load area on T2-weighted images showed a decrease in the accumulation of lesion area during treatment, which was significant for the patient group with a longer pretreatment period (p = 0.05, Friedman test). These results demonstrate a reduction in the number of new Gd-enhancing lesions and in the lesion load during Cop1 treatment compared with the preceding period without therapy and are suggestive of an effect of Cop1 on MR abnormalities observed in multiple sclerosis.

Gadolinium↗

Premature ovarian failure: steroid synthesis and autoimmunity.

The androgen biosynthesis and autoimmunity of 25 patients with premature ovarian failure (POF) and 18 control subjects with normal cycles were examined. Serum levels of dehydroepiandrosterone sulfate (DHEAS), 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone were analyzed in POF patients with or without organ-specific autoimmunity, and the results compared with those of women with normal ovarian function. The comparative analysis of DHEAS, 17-OHP, androstenedione and testosterone showed that POF patients had significantly lower values than normal women (DHEAS, androstenedione and testosterone p < 0.01, 17-OHP p < 0.05). Furthermore, we found one or more organ-specific autoantibodies in 11 patients with POF (44%), while only one woman in the control group showed autoimmunity (antithyroid microsome) (5.5%). Only one patient had both anti-ovarian and anti-adrenal antibodies (4%). The comparison of androgen levels in POF patients with or without autoimmunity revealed a statistically significant reduction of DHEAS levels in POF patients with organ-specific autoimmunity (p < 0.01). These data reveal the reduction in androgen synthesis in POF patients, particularly in those with organ-specific autoimmunity.

17-alpha-Hydroxyprogesterone↗

Beta-endorphin response to oral glucose tolerance test in obese and non-obese pre- and postmenopausal women.

Beta-endorphin (beta-EP) is a neuropeptide involved in several brain functions, regulating the reproductive axis and behavioral changes. Estrogens play a modulatory role on circulating levels of beta-EP in women. Previous clinical studies have demonstrated high plasma beta-EP levels in obese subjects and increased beta-EP release after an oral glucose tolerance test (OGTT) in normal or obese women. The aim of the present study was to evaluate plasma beta-endorphin levels in response to an OGTT in pre- and postmenopausal obese and non-obese women, in order to investigate if the decrease in gonadal steroid levels at menopause could modify in a different manner the control of beta-endorphin release in response to glucose administration. A group of 24 normal women (age range 45-55 years) were included in the study. The patients were subdivided in four groups of six subjects each: group A, premenopausal women with body mass index (BMI) < 25 (control); group B, premenopausal women with BMI > 25 (obese); group C, post-menopausal women with BMI < 25 (control); group D, postmenopausal women with BMI > 25 (obese). All women were studied between 8.30 and 9.00 am, after overnight fasting, and underwent an OGTT. In obese premenopausal women, basal plasma beta-EP levels were significantly higher than in non-obese women (p < 0.01). In postmenopausal women, regardless of body weight, low basal plasma beta-EP levels were found. A significant increase in plasma beta-EP levels, at 30 and 60 minutes after oral glucose ingestion, was shown in control premenopausal women. No significant modifications to OGTT were shown in plasma beta-EP levels in the other three groups of women. In conclusion, while in premenopausal women the response of plasma beta-EP levels to OGTT is maintained, in postmenopause there is a lack of response to OGTT. This suggests that beta-EP release is dependent upon gonadal steroids, while it is only in part influenced by body weight.

Adult↗

Hashimoto's disease in a papillary carcinoma of the thyroid originating in a teratoma of the ovary (malignant struma ovarii).

Adenocarcinomas represent a relatively rare complication of a cystic teratoma of the ovary. Those of thyroid origin have been reported in only a few cases. In this paper we report a case of papillary carcinoma of the thyroid arising from a cystic teratoma. The patient had no thyroid symptoms, but because of the presence of antimicrosomal and antithyroglobulin antibodies the diagnosis of Hashimoto's disease was made.

Autoantibodies↗

Risk for spontaneous preterm delivery by combined body mass index and gestational weight gain patterns.

BACKGROUND: To investigate whether maternal anthropometric factors interact with one another or with other risk factors, thus modifying the risk of spontaneous preterm delivery. METHODS: We carried out a case-control study of 230 spontaneous preterm births with intact membranes between 24 and 35 weeks gestation and 460 control term births. All the patients had prenatal care at the same institution. Logistic regression analysis was used to test for possible interactions adjusting for potential confounders. RESULTS: A pre-pregnancy body mass index < or = 19.5 Kg/m2 (odds ratio (OR) = 1.68, 95% confidence interval (CI) = 1.20-2.38) and a rate of weight gain < or = 0.37 Kg/week during the second and third trimesters (OR = 2.4, 95% CI = 1.69-3.42) were associated with an increased risk of spontaneous preterm delivery. The risk of spontaneous preterm delivery associated with a low second/third trimester weight gain was greater among patients with a body mass index < or = 19.5 (OR = 5.63, 95% CI = 2.35-13.8) compared to those with a body mass index > 19.5 (OR = 2.45, 95% CI = 1.60-3.75, adjusted p value for interaction = 0.05). The risk of spontaneous premature delivery associated with a maternal pre-pregnancy weight < or = 48 Kg was higher among smokers (OR = 5.81, 95% CI = 1.60-22.9) than among non-smokers (OR = 2.4, 95% CI = 1.53-3.74, adjusted p value for interaction = 0.05). CONCLUSIONS: The risk of spontaneous preterm delivery associated with a low pre-pregnancy body mass index is greater among patients with low rate of gestational weight gain during the second and third trimesters compared to those with a higher rate. The results of this study support the recommendation for increased rates of weight gain to patients with low body mass index compared to those with a higher body mass index.

Adult↗

Treatment of childhood post-irradiation sarcoma of bone in cancer survivors.

PATIENTS AND METHODS: This is a retrospective review of five children with post-irradiation bone sarcoma (PIS). Age at PIS onset ranged between 10 and 17 years (median 11). They were treated with a chemotherapy regimen, similar to that in use for primary osteogenic sarcoma, consisting of vincristine and high-dose methotrexate alternated with cisplatinum and ifosfamide, given for 12 months. RESULTS: In all children chemotherapy induced a complete clinical remission. Four of them were alive in continuous complete remission at 1, 2, 4, and 12 years from the diagnosis of bone sarcoma. One girl recurred 3 years from PIS diagnosis and was salvaged by repeating the same chemotherapy program: she remained alive in second complete remission 8 years from relapse. CONCLUSIONS: In spite of an intensive treatment previously given for the primary tumor, this drug schedule proved to be feasible and short-term side effects were manageable. Chemotherapy alone, using an intensive regimen effective for primary osteogenic sarcoma, may be an adequate therapy for childhood post-irradiation sarcoma.

Adolescent↗

Neuropsychological study during video-EEG recording of successive partial seizures of right temporo-central origin.

A 15-year-old, right-handed boy underwent video-EEG study as a first step in presurgical evaluation for a severe drug-resistant right temporo-central epilepsy. He was monitored while performing neuropsychological tests over a 67-minute period during which 23 brief seizures were recorded. Despite his right-handedness, both inter-ictal and ictal verbal performances were impaired. Analysis of the relationships between the characteristics of the EEG and the neuropsychological results revealed that a worsening in cognitive performances correlated with an increase in inter-ictal abnormalities, particularly when subclinical paroxysms were present; that the cognitive tasks executed peri-ictally were correctly performed in almost 50% of the cases; and that the error rate was higher when a task was presented during or immediately after a seizure rather than before its onset. A Wada test, performed on the basis of the cognitive results, demonstrated right hemisphere dominance for language. Our observations underline the importance of neuropsychological testing in presurgical procedures, and suggest that it should be performed peri-ictally whenever possible.

Adolescent↗