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Biomedical subjects

M Rosselli

Publications and source records attributed to M Rosselli.

At least 19 recordsLinked to original sources
PubMed1997

Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.

OBJECTIVES: To characterize clinical features of a very large pedigree with early-onset Alzheimer disease (AD) in which all affected individuals carry the identical glutamic acid-to-alanine mutation at codon 280 in the presenilin-1 gene. DESIGN: Clinical histories were obtained by patient and family interviews and through medical or civil records. Using standard diagnostic criteria, a case series of 128 individuals was identified, of which 6 have definitive (autopsy-proven) early-onset AD, 93 have probable early-onset AD, and 29 have possible early-onset AD. SETTING: Community based in Antioquia, Colombia. PATIENTS: A population-based sample in which all members of 5 extended families (nearly 3000 individuals) were surveyed. Criteria for inclusion required obtaining sufficient information to categorize the individual as affected. MAIN OUTCOME MEASURES: Age at onset, neuropsychological profile, neurologic history, and examination. RESULTS: The patients had a mean age at onset of 46.8 years (range, 34-62 years). The average interval until death was 8 years. Headache was noted in affected individuals significantly more frequently than in those not affected. The most frequent presentation was memory loss followed by behavior and personality changes and progressive loss of language ability. In the final stages, gait disturbances, seizures, and myoclonus were frequent. CONCLUSIONS: Other than the early onset, this clinical phenotype is indistinguishable from sporadic AD except that affected individuals frequently complained of headache preceding and during the disease. Despite the uniform genetic basis for the disease, there was significant variability in the age at onset, suggesting an important role for environmental factors or genetic modifiers in determining the age at onset.

Adult↗
PubMed1997

Relationship between site of disease and familial occurrence in Crohn's disease.

Concordance in the extent of disease among the family members of patients with Crohn's disease has not been widely investigated. Furthermore, the relationship between the site of the disease and familial occurrence has never been studied. Our aim was to evaluate the familial occurrence of Crohn's disease in the various sites. Nine hundred thirty-four patients with Crohn's disease, observed consecutively in two gastrointestinal departments, were investigated to determine first-degree familial incidence (in both Crohn's disease and ulcerative colitis). Whenever two or more members were attending the same clinic, only one was regarded as a propositus. The analysis, therefore, was carried out on 882 patients. The exact site of the disease was determined in all patients either at diagnosis or during the follow-up by colonoscopy and by small bowel enema. The rate of concordance in the extent of disease and familial occurrence in the various sites was evaluated and the difference was calculated by chi-square test. Sixty-one propositi were identified among all the patients. Forty-nine had familial occurrence for the same disease (concordant patients), whereas 12 had at least one relative with ulcerative colitis (discordant patients). In 44 propositi with only one relative affected, the rates of concordance in the extent of the disease were 84, 68, 18, and 0% respectively, for the ileum, the ileum-right colon, the ileum-total colon, and the colon. The number of propositi in the various sites was as follows: 4 of 162 (2.4%) patients with the disease located in the colon, 1 of 9 (11%) with the jejunum site, 24 of 380 (6.3%) with the ileum site, 16 of 165 (9.7%) with the ileum and right colon site, and 16 of 164 (9.7%) with the ileum and total colon site. The chi-square values of propositi distribution among other sites and the colon was, respectively, as follows: jejunum, 2.2 (N.S.); ileum, 3.4 (P = 0.06); ileum and right colon, 7.4 (P = 0.006); and ileum and total colon, 7.4 (P = 0.006). This study shows a pronounced concordance in the site of the disease for family members with Crohn's disease and suggests that familial occurrence in Crohn's disease is less frequent when the disease is located in the colon rather than elsewhere.

Colitis, Ulcerative↗
PubMed1997

Differential effects of hormone-replacement therapy on endogenous nitric oxide (nitrite/nitrate) levels in postmenopausal women substituted with 17 beta-estradiol valerate and cyproterone acetate or medroxyprogesterone acetate.

Increased incidence of cardiovascular disease in postmenopausal women (PMW) is accompanied by ovarian dysfunction; hormone replacement therapy (HRT) can have cardioprotective effects. Because hypertension and atherosclerosis are associated with impaired release of endothelium-derived nitric oxide (NO) and increased levels of low-density lipoproteins (LDL), we investigated whether HRT augments NO release, and whether these increases are accompanied by a decrease in LDL levels in PMW. We determined serum nitrite/ nitrate (NO2-/NO3-) and LDL levels at baseline (before initiation of HRT) and during the 6th and 12th months of the study. The PMW (n = 26) received continuous oral administration of estradiol valerate (Progynova, 2 mg daily) for 21 days supplemented with either oral cyproterone acetate (CPA; 1 mg; n = 11) or medroxyprogesterone acetate (MPA; 5 mg; n = 15) on days 12-21 of each treatment cycle. Blood samples in the PMW receiving HRT were collected at times while the subjects were taking estradiol valerate alone and estradiol valerate plus CPA or MPA. Compared with the samples collected at baseline, serum NO2-/NO3- levels increased significantly from 20.1 +/- 1.58 mumol/L at baseline to 30 +/- 3.7 mumol/L (P < 0.01) in samples collected after 12 months of HRT while the PMW were not taking progestins (CPA or MPA), and to 25.4 +/- 2 mumol/L (P < 0.05) when all the samples, regardless of the treatment with CPA or MPA, were included in the analysis. Moreover, > 30% increase in serum NO2-/NO3- levels were observed only in 13 (responders) out of 26 PMW substituted with estradiol valerate, suggesting that estradiol may improve endogenous NO synthesis in a differential fashion. Compared with baseline, no significant increases in serum NO2-/NO3- were observed in samples collected while the estradiol-treated responders were taking either CPA or MPA. In contrast to NO2-/NO3- serum LDL levels were significantly reduced in samples collected after 12 months of HRT (P < 0.05 vs. baseline). Furthermore, levels of NO2-/NO3 showed a significant negative correlation with the levels of LDL (r2 = 0.17; P < 0.05) in the responders but not in nonresponders. These results indicate that oral administration of estradiol valerate in PMW for HRT increases circulating NO levels, an effect that may contribute to the cardioprotective effects of HRT in PMW. In addition, our data suggests but does not prove that concomitant administration of a progestin may attenuate the beneficial effects of estrogen replacement therapy with regard to NO release. Finally, our data provides evidence for the existence of responders and nonresponders to postmenopausal estrogen treatment with respect to improvement of endogenous NO levels, suggesting that a significant number, but not all, of the hormonally substituted PMW profit fully from the beneficial properties of a HRT.

Estradiol↗
PubMed1996

Effect of a programmed short-term stimulation protocol on the replacement of cryopreserved embryos.

PURPOSE: Through problems in the management of embryo thawings and transfers, we investigated in a comparative study the use of the natural cycle and of a programmed short-term stimulation protocol as preparation method for the replacement of cryopreserved embryos. To date, 117 embryos have been thawed, and 60 (51%) survived with > or = 50% intact blastomeres. METHODS: In 31 cases, replacement of the frozen-thawed embryos was planned in the natural cycle (group A) and in nine cases in the stimulated cycle (group B). In group A, 16 replacements could be performed (cancellation rate 48%). Six transfers took place on weekends (37%). Two clinical pregnancies could be established (13% per replacement). In group B, there were no canceled cycles (p < 0.025). All thawings and transfers could be conducted between Monday and Friday. In one case, the single one frozen embryo was degenerated after thawing. RESULTS: Thus, eight replacements could be performed which resulted in three clinical pregnancies (38% per replacement, n.s.) and one biochemical pregnancy. CONCLUSIONS: Based on our results, we conclude that a programmed short-term protocol not only provides viable embryos with a good cryopreservation potential, but it is also a reliable preparation method for the replacement of frozen-thawed embryos.

Adult↗
PubMed1996

Cognitive effects of cocaine and polydrug abuse.

One hundred and eighty-three participants were divided into three groups containing: 61 cocaine-dependent; 59 polydrug-dependent; and 63 normal subjects. All were evaluated using a basic neuropsychological assessment battery. The dependent groups exhibited significantly lower scores on short-term memory, attention, and concept formation tests. Performance on some subtests correlated negatively with the length of dependency and frequency of substance use. As compared with the control group, the dependent groups exhibited significant differences in the following personal and family areas: (a) depression and anxiety traits; (b) self-aggression and lack of fear in childhood; (c) family history of substance dependency; and (d) difficulties with interpersonal relationships. The operation of predisposing developmental factors for substance dependence is suggested.

Adult↗
PubMed1996

Nuclear maturity and oocyte morphology after stimulation with highly purified follicle stimulating hormone compared to human menopausal gonadotrophin.

Several studies have shown that high concentrations of luteinizing hormone (LH) in the follicular phase of stimulation can have a negative effect on oocyte quality, pregnancy rate and incidence of miscarriage. The aim of the present study was to examine the effects of highly purified follicle stimulating/hormone (FSH HP) on ovarian stimulation and particularly on nuclear maturity and morphological appearance of the oocyte in intracytoplasmic sperm injection (ICSI) therapy and to compare the results with human menopausal gonadotrophin (HMG) stimulation. For this purpose, 50 patients for ICSI (HMG: 30; FSH HP: 20) and 26 patients for in-vitro fertilization (IVF; HMG: 14, FSH HP: 12) were stimulated with either HMG or FSH HP using a short-term protocol. Patients were divided into the two groups according to the first letter of their family name. No differences were observed among the groups in relation to patient age, duration of stimulation, number of aspirated oocytes or maturity of the oocyte-cumulus complex. After removal of the cumulus-corona cells in the ICSI oocytes, a significantly higher proportion of oocytes in the FSH HP group were nuclear mature (metaphase II) than in the HMG group (FSH HP: 88.8%, HMG: 80.6%; P = 0.009). Furthermore, in the FSH HP group, significantly fewer oocytes with dark cytoplasm were observed (FSH HP: 14.4%, HMG: 22.4%; P = 0.02). Fertilization, cleavage and pregnancy rates (FSH HP 38%, HMG: 34% per retrieval) were comparable in both groups. Based on the results obtained, it can be concluded that the short-term FSH HP treatment protocol synchronizes oocyte maturation better than comparable stimulation with HMG.

Cell Nucleus↗
PubMed1996

The chromosomal complements of multipronuclear human zygotes resulting from intracytoplasmic sperm injection.

Implementation of intracytoplasmic sperm injection (ICSI) in human in-vitro fertilization (IVF) has highlighted the need for information about the risk of nuclear spindle damage caused by this procedure. For this purpose we studied the final products of oocyte meiosis at the first cleavage division of multipronuclear zygotes arising after ICSI, and compared the results with abnormally fertilized oocytes after conventional in-vitro insemination. Of 37 successfully analysed tripronuclear zygotes, 18 had three individual metaphases. Abnormal complements of 11 zygotes in this group indicated that non-disjunction occurred predominantly at the second meiotic division of the oocytes. Nine of the 37 tripronuclear zygotes exhibited two individual metaphases. Seven were abnormal and there were some indications that non-disjunction took place during oocyte meiosis. Of the 37 tripronuclear zygotes, 10 had a single metaphase and three showed an aneuploid number of chromosomes. The overall rate of aneuploidy among tripronuclear microinjected zygotes was 56.7%. In addition, seven zygotes with more than three pronuclei arising after ICSI displayed severely depleted chromosome complements. The incidence of non-disjunction in oocytes fertilized by conventional in-vitro insemination was significantly lower (20.0%, P < 0.01), since only four zygotes had an aneuploid number of chromosomes. Our findings suggest that ICSI might interfere with regular chromosome segregation at the second meiotic division of the oocytes.

Aneuploidy↗
PubMed1996

Increased nitric oxide activity in early renovascular hypertension.

A decreased influence of nitric oxide (NO) in the peripheral vasculature is associated with the pathophysiology of established hypertension, and some studies suggest that increased blood pressure positively correlates with decreased NO production. If so, then the increased arterial pressure in one-kidney, one-clip (1K1C) hypertensive rats should be associated with decreased circulating levels of nitrite/nitrate (NO2/NO3; stable metabolites of NO) and guanosine 3',5'-cyclic monophosphate (cGMP; mediator of NO action). We measured serum NO2/NO3 and cGMP levels in early hypertensive 1K1C (2 wk after clipping) and shamoperated one-kidney (1K) normotensive rats, treated orally with or without the NO-synthase inhibitor NG-nitro-L-arginine methyl ester (L-NAME, 2 wk). Compared with those in 1K rats, NO2/NO3 and cGMP levels were increased in 1K1C hypertensive rats but not in 1K1C rats treated with L-NAME. NO2/NO3 and cGMP levels in L-NAME-treated 1K and 1K1C rats were similar. Compared with that in 1K rats, systolic blood pressure (SBP) was increased in 1K1C rats and in L-NAME-treated 1K and 1K1C rats. The SBP increase in L-NAME-treated 1K1C rats was more rapid than in untreated 1K1C rats. In early hypertension, increases in SBP positively correlated with increases in serum NO2/NO3 and cGMP. After 2 wk of hypertension, circulating NO2/NO3 levels gradually declined and reached prehypertension levels by the fifth week of hypertension. These results provide evidence for increased NO synthesis in early hypertensive 1K1C rats, and this increased NO could be a compensatory mechanism to slow the development of hypertension in these animals.

Animals↗
PubMed1996

Spontaneous language production and aging: sex and educational effects.

Sex and educational level effects on spontaneous language production at different ages were analyzed in a 180-normal subject sample taken from the general population. Subjects were divided into groups according to three variables: (1) age (16-30, 31-50, and 51-65 years), (2) educational level (3-7, 8-12 and more than 12 years of formal educational), and (3) sex (males and females) with 10 subjects in each cell. The oral description of the Plate #1 ("The Cookie Theft") from the Boston Diagnostic Aphasia Examination (Goodglass & Kaplan, 1972) was selected. Number of nouns, verbs, adjectives and grammatical connectors were scored for each subject's picture description. It was concluded that: (1) the ratio among different phrase elements was very uniform across age, educational level and sex groups; (2) the total number of words used to describe the "The Cookie Theft" picture significantly increased with the subject's educational level; (3) the amount of spontaneous language in general decreased with age; however, a significant interaction-effect between age and sex was observed. A steady and pronounced spontaneous language decrease across age-groups was observed in males. However, only mild differences across age-groups were observed in female subjects. It was hypothetized that language changes during aging are strongly sex-dependent: while in men spontaneous language rapidly decreases with aging, in women spontaneous language production remains quite well-preserved.

Adolescent↗
PubMed1996

Mortality in patients with Crohn's disease.

BACKGROUND: No data on mortality for Crohn's disease are available from southern Europe. METHODS: Five hundred and thirty-one patients with Crohn's disease were observed in our unit between 1973 and 1993. In 325 patients the first diagnosis was made in our hospital. In this consecutive incidence series, in which the follow-up was 99% complete, the standardized mortality rate (SMR) was calculated. RESULTS: Nine deaths were observed, against 9.25 expected. The SMR was 0.97 (95% confidence interval (CI), 0.4-1.8). The relative risk of dying was significantly higher in the female group in the first 5 years after diagnosis (SMR, 10.3; 95% CI, 2.30-30.2). There was an excess of deaths from tumors of the digestive organs (1 observed, 0.37 expected). CONCLUSIONS: These results show that in our geographic area the mortality from Crohn's disease was not increased as shown in other community studies.

Adolescent↗
PubMed1996

[Treatment of acute a steroid-resistant ulcerative colitis with continuous venous infusion of cyclosporine].

UNLABELLED: Aim of this open study is to evaluate the efficacy and safety of a low-dose treatment of continuous intravenous infusion of cyclosporine. We treated twelve patients with severe active ulcerative colitis, that did not respond to high doses of intravenous steroid for at least ten days. We used a dose of 2 mg/kg/day for 15 days. After this period, if patients improved, cyclosporine was administered orally at the dose of 6 mg/kg/day for six months. The response rate to acute phase therapy was 92.8%. The mean response time was 5.8 days. Sixty-nine percent of patients responded within the first week. No adverse reaction was observed. The first five patients responding to acute phase therapy relapsed during or at the end of maintenance phase. Because of that, azathioprine was associated in the successive patients. Only 4 out of 12 patients (33%) were operated on. CONCLUSIONS: continuous intravenous infusion of cyclosporine at dosage of 2 mg/kg/day is a highly effective and safe therapy that may avoid or defer colectomy to eligible conditions.

Acute Disease↗
PubMed1995

[Intracytoplasmic versus subzonal spermatozoa injection. A comparison of 2 different methods of micro-assisted fertilization].

In order to define the usefulness of subzonal sperm insertion (SUZI) and intracytoplasmic sperm injection (ICSI), we studied in a comparative trial 46 consecutive treatment cycles of microassisted fertilisation by SUZI and ICSI. By ICSI 9% of the oocytes in metaphase II were damaged in 26 treatment cycles, by SUZI, however, not one single egg in 20 cycles (p < 0.001). Fertilisation rate after ICSI (65%) was, particularly in cases with combined sperm defects as well, significantly higher than after SUZI (35%; p < 0.001). Additionally, after ICSI a higher transfer (100% vs. 75%; p < 0.05) and pregnancy rate could be obtained (38% vs. 10% per cycle; p < or = 0.05). At the moment, 3 healthy children are born (2 after SUZI, 1 after ICSI), 4 patients are in the 2nd and 3rd trimenon, respectively, the remaining 5 patients aborted. In conclusion, the ICSI technique yields better results than SUZI, especially in cases of very severe male subfertility.

Cytoplasm↗
PubMed1995

Evidence for in vivo high-frequency periodicity of plasma beta-endorphin in humans.

OBJECTIVE: To investigate whether high-frequency periodic fluctuation in the release of plasma immunoreactive (ir)-beta-endorphin occurs in humans. DESIGN, PATIENTS AND MEASUREMENTS: Blood was collected at 90-sec intervals for 1 hour from the forearm vein of four healthy women and subsequently analysed for ir-beta-endorphin by radioimmunoassay. RESULTS: In all women circulating beta-endorphin release followed a high-frequency periodic rhythm pattern. The estimated spectral densities within the four subjects varied between 3.6 min to 4.9 min. CONCLUSIONS: Our results provide the first in vivo evidence that fluctuations in the release of beta-endorphin in humans cannot only be characterized by low-frequency pulses, but also by a high frequency periodic rhythm.

Adult↗
PubMed1995

Effects of nitric oxide on human spermatozoa: evidence that nitric oxide decreases sperm motility and induces sperm toxicity.

Endogenous nitric oxide (NO) is an important functional mediator in several physiological systems, including the reproductive system. However, when generated in excessive amounts for long periods, mainly during immunological reactions, NO is cytotoxic and cytostatic for invading microbes, as well as for the cells generating it and the tissues present around it. Since infertility associated with urogenital tract infection in males and females is also accompanied by reduced sperm motility and viability, it is possible that reduced fertility in these patients is due to NO-induced sperm toxicity. We therefore evaluated the direct effects of NO, chemically derived from S-nitroso-N-acetylpenicillamine (SNAP, 0.012-0.6 mM) and sodium nitroprusside (SNP, 0.25-2.5 mM), on the motility and viability of human spermatozoa. Furthermore, we tested whether inhibition of NO synthesis prevents sperm motility and viability by incubating washed total cells present in the semen (spermatozoa, round cells) with N-nitro-L-arginine-methyl-ester (L-NAME), a NO synthesis inhibitor. Treatment of purified spermatozoa with SNAP or SNP decreased forward progressive sperm motility and straight line velocity, and also increased the percentage of immotile spermatozoa in a concentration-dependent manner. Furthermore, the percentage of immotile spermatozoa positively correlated with the percentage of dead spermatozoa. In contrast to freshly prepared SNAP, SNAP preincubated for 48 h had no effect on the motility and viability of the spermatozoa. Furthermore, as compared to untreated controls, a significantly higher percentage of forward progressive sperm motility as well as viability (P < 0.05) was maintained in washed semen incubated with L-NAME (0.15 mM).(ABSTRACT TRUNCATED AT 250 WORDS)

Arginine↗
PubMed1995

Circulating nitric oxide (nitrite/nitrate) levels in postmenopausal women substituted with 17 beta-estradiol and norethisterone acetate. A two-year follow-up study.

Postmenopausal women (PMW) have an increased risk of cardiovascular disease that is attenuated by hormone replacement therapy (HRT). Inasmuch as hypertension and atherosclerosis are associated with diminished endothelium-derived nitric oxide (NO), we investigated whether HRT augments NO release in PMW. We determined serum levels of nitrite/nitrate (NO2 + NO3) at baseline and during the 6th, 12th, and 24th months of the study in two groups of PMW. One group (HRT-PMW, n = 13) received continuous transdermal administration of 17 beta-estradiol (Estraderm-TTS-50) supplemented with oral norethisterone acetate (NETA) on days 1 through 12 of each month, and the other group (control PMW, n = 13) did not receive HRT. Blood samples in the HRT-PMW group were collected without regard to whether subjects were taking NETA at the time of blood sampling. Serum NO2 + NO3 levels increased in HRT-PMW for the duration of the study, whereas serum NO2 + NO3 levels remained unchanged in control PMW. When all samples regardless of timing of collection with respect to NETA treatment were included in the statistical analysis, the change in NO2 + NO3 levels in HRT-PMW was significantly greater compared with the change in control PMW (P = .037). Likewise, when only those samples collected when estradiol-treated subjects were not taking oral NETA were included in the statistical analysis, the change in NO2 + NO3 levels in the HRT-PMW group remained significant (P = .047) compared with control PMW.(ABSTRACT TRUNCATED AT 250 WORDS)

Drug Therapy, Combination↗
PubMed1994

Circulating nitrite/nitrate levels increase with follicular development: indirect evidence for estradiol mediated NO release.

Ovarian dysfunction as well as impaired release of endothelium-derived nitric oxide (NO) is associated with increased incidence of cardiovascular disease in postmenopausal women. Estrogen replacement therapy in postmenopausal women has a cardioprotective effect. Hence, using follicular development (FD) phase of the menstrual cycle of normal women (n = 7) and of patients undergoing in vitro fertilization (n = 16), we tested whether ovarian/sex hormones modulate NO-release. Levels of nitrite/nitrate (stable metabolites of NO), 17 beta-estradiol (E), progesterone (P), follicle-stimulating hormone (FSH) and luteinizing hormone (LH) were measured in serum collected during FD-phase. Serum nitrite/nitrate levels increased (p < .01) with the normal, as well as hormonally-induced FD and correlated with increases in serum E levels (r2 = 0.67; p < .01), but not with P, FSH and LH (p > .05). Post-ovulatory increase in P and LH levels decreased serum nitrite/nitrate levels (p < .05), even in presence of high E levels. In conclusion, nitrite/nitrate increase with follicular development, an effect that is potentially mediated by E induced NO release.

Adult↗
PubMed1994

Endogenous nitric oxide modulates endothelin-1 induced contraction of bovine oviduct.

We recently reported that oviduct epithelial cells in culture produce endothelin (ET) and postulated that ET could play an important role in the contraction of the oviduct. In the present study using an organ chamber myograph system, we evaluated the contractile effects of ET-1 on bovine oviduct ampullary-isthmus segments. Additionally, the possibility whether the basal release/synthesis of nitric-oxide (N(O)) and/or prostacyclin modulates the contractile effect of ET-1 was investigated. ET-1 (10(-10) to 10(-7) M) contracted oviduct rings in a concentration dependent manner (P < 0.05). ET-1 (10(-7) M) induced contractions were significantly enhanced in presence of nitric oxide synthase inhibitor N-nitro-L-arginine-methyl-ester (10(-4) M), but remained unaltered in the presence of indomethacin (10(-5) M), an inhibitor for prostacyclin synthesis. In conclusion, ET-1 induced contraction of the oviduct is reduced/modulated by endogenous basal release/synthesis of N(O).

Acetylcholine↗