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Biomedical subjects

A Ferrari

Publications and source records attributed to A Ferrari.

At least 109 records · Page 6Linked to original sources

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↗

Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy.

We studied the immunohistochemical expression of laminin subunits alpha 2, alpha 1, beta 1 in muscle and skin biopsy samples from three patients with congenital muscular dystrophy (CMD), and from ten control patients investigated for various neuromuscular disorders. Merosin alpha 2 chain was not detectable in the basement membrane of muscle fibers, or in the nerve endings, cutaneous nerves, and corium in the skin of the CMD patients, whereas it was clearly expressed in the skin biopsy samples from control patients, especially in the nerve endings of the arrector pili muscles. Laminin alpha 1 chain was expressed in the corium, in the muscle fiber membranes of arrector pili muscles and in cutaneous nerve fibers, perineurium and blood vessels in controls and in CMD patients. Laminin beta 1 chain was faintly expressed in the corium, and a diffuse labeling was detected on arrector pili muscle with enhanced expression at nerve endings, intracutaneous nerves and capillaries, with similar findings in all biopsy specimens. For merosin-negative CMD patients, skin biopsy may provide a diagnostic alternative to muscle biopsy since merosin deficiency can be demonstrated in the skin neural structures, and in particular in the nerve endings of the arrector pili smooth muscles.

Biopsy↗

The triangular vaginal patch sling for stress urinary incontinence and hypermobile urethra.

OBJECTIVE: We describe an alternative sling procedure that permits concomitant correction of urethral hypermobility and urinary incontinence through a single surgical exposure. STUDY DESIGN: Fifteen women with severe urinary stress incontinence and urethral hypermobility underwent a sling procedure by creation of a simple triangular patch from the anterior vaginal wall. RESULTS: The mean operative time for the vaginal sling procedure was 38 minutes (range 29 to 65 minutes) in addition to other operations. The mean postoperative hospital stay was 7.7 days (range 5 to 13 days) and all patients were routinely discharged with an indwelling Foley catheter. Spontaneous micturition occurred in 12 patients after a mean period of 25 days (range 13 to 36 days). In three cases long-term catheterization was necessary. By subjective and objective evaluations, all the patients were cured of their stress incontinence. CONCLUSION: The triangular vaginal patch with the single sutures on each side provides an alternative approach for bladder neck stabilization that may permit a more anatomic suspension of a hypermobile urethra.

Aged↗

Influence of gestational age on fetal deoxyribonucleic acid retrieval in maternal peripheral blood.

OBJECTIVE: We wanted to verify whether gestational age influences the retrieval of fetal deoxyribonucleic acid in maternal blood to identify the best period for maternal blood sampling for a future noninvasive prenatal diagnoses. STUDY DESIGN: We amplified 81 deoxyribonucleic acid samples extracted from the peripheral blood of 27 pregnant women (18 bearing male fetuses and 9 bearing females) by nested polymerase chain reaction of the Y-specific sequence DYS14. We obtained three blood samples (one per gestational trimester) from each woman. Statistical evaluation was assessed by the McNemar test of symmetry. RESULTS: Polymerase chain reaction results in male-bearing pregnancies differed significantly between the first and second trimesters and between the second and third trimesters (p < 0.025) in parallel with a decrease in sensitivity in the second trimester (67%) compared with the first (94%) and third trimesters (100%). CONCLUSIONS: The drop in sensitivity from the first to the second trimester witnesses a variable concentration of fetal cells in maternal blood, with a negative balance in the second trimester. Therefore, to achieve an adequate polymerase chain reaction accuracy, the choice of gestational age is relevant and the first trimester seems to be more suitable than the second trimester.

DNA↗

Idiopathic sclerosing peritonitis associated with florid mesothelial hyperplasia, ovarian fibromatosis, and endometriosis: a new disorder of abdominal mass.

A 35-year-old woman underwent exploratory laparotomy for ovarian enlargement, massive ascites, and intestinal obstruction. Sclerosing peritonitis associated with florid mesothelial hyperplasia, ovarian fibromatosis, and endometriosis were diagnosed postoperatively. We add to the literature this new association of bilateral ovarian enlargement, sclerosing peritonitis, and florid mesothelial hyperplasia.

Adult↗

Detection using antisperm monoclonal antibodies of shared epitopes expressed by human spermatozoa and oocytes.

OBJECTIVE: To determine whether human spermatozoa and oocytes share common antigenic epitopes, supporting the hypothesis that their cross-linking by antisperm antibodies present in the clinical sera of infertile couples could promote sperm adhesion to the oolemma. DESIGN: Human and hamster eggs were studied for the presence of antigens recognized by a panel of World Health Organization Task Force monoclonal antibodies (mAbs) originally raised against human spermatozoa. A new technique was devised, using frozen sections of paraformaldehyde-fixed individual human and hamster eggs, to screen rapidly antisperm mAbs for egg reactivity. Living zona-free human and hamster eggs then were exposed to Covaspheres (Duke Scientific, Palo Alto, CA) coupled with these mAbs to document the presence of reactive epitopes on the oolemma. SETTING: Academic research environment. MAIN OUTCOME MEASURE(S): Indirect immunofluorescence and Covasphere rosetting. RESULT(S): Eleven of 37 antisperm mAbs tested reacted with fixed hamster eggs and 10 reacted with human eggs. Five of 6 mAbs reactive with both fixed eggs also reacted with the oolemma of living, zona-free eggs. CONCLUSION(S): Common antigenic epitopes, some of which are shared with somatic tissues, exist on the oolemma of human eggs and on the plasma membrane of human spermatozoa.

Animals↗

Reliability of preoperative evaluation of prognostic factors in endometrial carcinoma.

OBJECTIVE: To define the accuracy of preoperative evaluation of prognostic factors in detecting patients with low risk of node metastasis in which different surgical approaches can be proposed. SUBJECTS: Seventy-five patients with a histologically proven endometrial carcinoma were considered in this study. METHODS: All the patients underwent a preoperative evaluation of grading (G), and myometrial invasion (M) by endometrial biopsy and transvaginal ultrasound (TVS). In 41 patients preoperative ploidy of carcinoma cells (P) was determined by flow cytometry. Pre-surgical G, M and P were then compared with surgical specimens. We considered 'low risk', patients with no or moderate myometrial invasion, well-differentiated histological grading and diploid DNA. RESULTS: We were able to identify 19/23 (82.6%) low risk cases. Correct identification of high risk patients was obtained in 49/52 (94%) patients. In three low risk patients, correctly diagnosed preoperatively, the final FIGO stage was IIIA (two for adnexal involvement and one for positive peritoneal washing). CONCLUSIONS: Our findings suggest that it is possible to detect preoperatively patients with a low risk of node metastasis. Alternative surgical approaches, i.e. vaginal surgery, can be taken into account in such patients.

Adult↗

Meconium-stained amniotic fluid and risk for cerebral palsy in preterm infants.

OBJECTIVE: To estimate the risk for cerebral palsy in preterm infants in relation to the presence of meconium in the amniotic fluid (AF). METHODS: A cohort study was conducted of 404 consecutive preterm infants delivered between 24 and 33 weeks' gestation at a single institution. Sociodemographic and clinical data were collected at birth. The diagnosis of cerebral palsy was made at 2 years' corrected age. Politomous logistic regression models were used to evaluate the odds for cerebral palsy while adjusting for potential confounders. RESULTS: The overall prevalence of cerebral palsy among survivors was 11.6% (40/345). The cerebral palsy rate was 41.2% (7/17) among infants who were meconium-stained at birth and 10% (33/328) among those who were not (P = .006 by Fisher exact test). After adjustment for potential confounders (gestational age and fetal gender), the odds ratio of cerebral palsy among infants delivered to women with meconium-stained AF was 6.9 (95% confidence interval 2.32, 20.81, P = .001) relative to those delivered to women with clear AF. CONCLUSION: The results of the present study support the view that the presence of meconium in the AF is a gestational age-independent risk factor for cerebral palsy among preterm infants.

Amniotic Fluid↗

Effect of liver cirrhosis on the systemic availability of naltrexone in humans.

BACKGROUND/AIMS: Naltrexone is a competitive opiate antagonist with high hepatic extraction. It is used for detoxification treatment for heroin addicts and has been proposed as a possible treatment of pruritus in cholestasis. Such patients are likely to have impaired liver function, underscoring the need to understand the pharmacokinetic behavior of naltrexone in liver disease. These studies were undertaken to evaluate the effect of liver cirrhosis on the plasma time-course of naltrexone. METHODS: A total of 18 patients were investigated: seven migraine patients with normal liver function regarded as controls and 11 patients with liver cirrhosis (six with decompensated disease and five with preserved liver function). A bolus of 100 mg of naltrexone was administered orally in the morning, after an overnight fast. Blood samples were taken in basal conditions and at fixed intervals, up to 24 h after administration. Serum levels of naltrexone and of its major active metabolite, 6 beta-naltrexol, were assayed by reversed-phase HPLC analysis. RESULTS: In control subjects, circulating concentrations of naltrexone were always much lower than those of 6 beta-naltrexol (area under the curve: naltrexone, 200 +/- 97 ng/ml x 24 h; 6 beta-naltrexol, 2467 +/- 730 ng/ml x 24 h, p < 0.01). In severe cirrhosis serum levels of 6 beta-naltrexol increased more slowly, so that circulating levels of naltrexone during the first 2-4 h after drug intake were higher than those of 6 beta-naltrexol (6 beta-naltrexol/naltrexone ratio at 2 h: controls, 10.91 +/- 4.80; cirrhosis, 0.39 +/- 0.18, p < 0.01). The area under the curve for naltrexone (1610 +/- 629 ng/ml x 24 h) was significantly greater than in controls, whereas that for 6 beta-naltrexol (2021 +/- 955 ng/ml x 24 h) was not significantly different. Patients with compensated cirrhosis showed an intermediate pattern. No differences in elimination half-life of the two drugs were detected among the groups. CONCLUSIONS: Our data suggest the occurrence of important changes in the systemic availability of naltrexone and 6 beta-naltrexol in liver cirrhosis; such alterations are consistent with lesser reduction of naltrexone to 6 beta-naltrexol and appear to be related to the severity of liver disease. This must be considered when administering naltrexone in conditions of liver insufficiency.

Adult↗

Percutaneous endoscopic gastrostomy: a long-term follow-up.

Percutaneous endoscopic gastrostomy (PEG) is the preferred method of long-term tube feeding, but only a few studies describe a long-term follow-up. The purpose of this study is to analyze the follow-up of PEG enteral feeding patients in the long term, and to report on the complication and survival rates. Between January 1991 and June 1995, we studied 136 patients (49% cancer and 51% non-cancer patients; male = 68%, female = 32%) after PEG insertion. One hundred twenty-eight patients had a long-term follow-up of over 31 d. The mean duration of PEG feeding was 277 +/- 358 d (range 31-1590): 17% of patients returned to oral feeding, 34% continued enteral nutrition, and 49% died. Major complications occurred in 3% of the patients: 1 aspiration pneumonia, 1 subcutaneous abscess. 2 buried bumper syndrome. Minor complications arose in 14% of our cases: 8 tube blockages, 4 tube dislodgements, 6 site infections. For the whole group of 136 patients, survival probabilities after PEG insertion at 1, 6, 12, and 24 mo were 90.5%, 52%, 42%, and 35%, respectively. After 180 d, the difference in survival probabilities between cancer and non-cancer patients became significant (P < 0.02). Median survival probability was 64% for non-cancer and 39% for cancer patients, and this trend did not change over 2 y.

Abscess↗

In controlled ovarian hyperstimulation, steroid production, oocyte retrieval, and pregnancy rate correlate with gene expression of vascular endothelial growth factor.

PURPOSE: Whether the gene expression of vascular endothelial growth factor (VEGF) in human granulosa cells is a predictor of fertilization was evaluated in patients participating in an in vitro fertilization program. METHODS: Fifty patients with normal ovaries who were participating in an in vitro fertilization program at the University of Milan, San Raffaele Scientific Institute, were included in the study. We correlated E2 and P serum levels on the day of oocyte collection, the number of follicles, oocytes collected, and fertilized, and pregnancies with mRNA for VEGF of luteinizing granulosa cells obtained at the time of oocyte retrieval. RESULTS: Comparing E2 and P serum levels, the number of follicles, oocytes collected and fertilized, and pregnancies with gene expression for VEGF, we found a positive correlation. E2 and P serum levels were higher in patients with increased VEGF (P < 0.01). Furthermore, there were more follicles, oocytes collected and fertilized, and pregnancies in patients with maximum expression of VEGF, and the difference was statistically significant (P < 0.05). CONCLUSIONS: Our results suggest that VEGF may be important for vascular development during follicular growth and luteal differentiation, oocyte maturation, and fertilization.

Blotting, Northern↗