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Biomedical subjects

M Ruggeri

Publications and source records attributed to M Ruggeri.

At least 109 records · Page 6Linked to original sources
PubMedDate not supplied

A new Italian family with severe prekallikrein deficiency. Desmopressin-induced fibrinolysis and coagulation changes in homozygous and heterozygous members.

In this paper we report the case of a new Italian family with severe cross-reacting material prekallikrein deficiency (CRM-). The proposita is a 22-year-old woman referred for evaluating an extremely prolonged activated partial thromboplastin time (APTT) detected during a routine screening. No clearcut bleeding history was reported. Prekallikrein antigen and activity were not measurable. The other contact-phase factors were within the normal range. Using an electromechanical coagulometer, six different commercial reagents yielded a markedly prolonged APTT (ratio greater than 2). By prolonging the incubation time up to 10 min, APTT was normalized only with reagents employing ellagic acid as activator. On the contrary, APTT remained markedly prolonged using particulate activators (i.e. micronized silica and celite). No differences were observed using either rabbit or bovine brain cephalin. APTT was also performed on a laser automated ACL instrument; in this case reagents using ellagic acid yielded only moderately prolonged APTT values (ratio 1.3 vs 1.4). The intrinsic fibrinolytic activity, as assessed by blood activator inventory test, was found to be moderately reduced (about 50% of normal) in the proposita, whereas normal values were measured in the heterozygous relatives. After infusion of 0.3 micrograms/kg 1-desamino-8-D-arginine vasopressin (DDAVP), kallikrein levels did not change in the proposita and her heterozygous relatives. A normal release of tissue-plasminogen activator, as assessed by fibrin-plate assay, was observed in all family members including the proposita.

Adult↗
PubMedDate not supplied

Plasma alpha1-antichymotrypsin in Alzheimer's disease; relationships with APOE genotypes.

Inflammatory processes are thought to be important contributors to the pathogenesis of Alzheimer's disease (AD). alpha1-antichymotrypsin (ACT) is a proteinase inhibitor characteristic of acute-phase inflammation and has been identified in amyloid plaques. We analyzed the plasma ACT levels in a sample of subjects with late-onset AD and correspondent controls. Plasma ACT was higher in AD patients (62.8 +/- 20.2 mg/dl) than in controls (58.8 +/- 18.1 mg/dl), but not significantly (P = 0.13). In the AD patients regression analysis showed a positive linear relationship between ACT levels and duration of the disease (P = 0.037). Increased ACT concentrations (64.6 +/- 21.2 mg/dl) were also found in patients with greater cognitive impairment (MMSE scores < 20), but since this factor depends on the duration of the disease as well, our present data seem to indicate a complex relationship involving elevated ACT levels, disease duration and cognitive impairment. Plasma ACT was found to differ significantly according to APOE genotypes (P = 0.017), the highest levels being associated to E3-E3 homozygotes (66.1 +/- 17.8 mg/dl) and the lowest to E4-E3 subjects (53.1 +/- 18.2 mg/dl). In patients not carrying APOE*4 allele the ACT levels were higher than in controls (P = 0.014), and the relationship between ACT and disease duration was stronger than that observed in the total AD sample (P = 0.003), but it was absent in those carrying APOE*4 (P = 0.67). Taken together our results seem to suggest that inflammation is a relevant factor in AD pathogenesis for subjects with E3-E3 and E3-E2 genotypes but less important for APOE*4 carrying subjects.

Aged↗
PubMedDate not supplied

[Therapeutic needs in psychiatric patients: a systematic review of the literature. I. General concepts and assessment measures. Needs for services].

OBJECTIVE: In Italy, mental health care is in phase of reorganisation. In this frame the measurement of users' needs may be a useful tool in planning individualised mental health service interventions and in their evaluation. Aims of the present study are (I) to highlight the basic concepts of 'needs for care' and give a brief description of the main needs assessment tools specifically developed for psychiatric patients; (II) to review studies assessing needs for mental health services in the general population; (III) to discuss the role played by the assessment of needs in planning mental health care. METHODS: Studies published in the international literature from January 1980 to June 1999 were reviewed. The studies were located through a computerised search of the databases MEDLINE and PsycLit; in addition, the reference lists of the studies located through the computerised search and the content of main international psychiatric journals were manually scanned in order to avoid possible omissions. Studies assessing needs for services and studies assessing needs on individual level were separately reviewed. Both groups of studies, in turn, were divided in studies assessing needs for mental health care in the general population and in psychiatric patients. RESULTS: Although most studies on needs for services used indirect methodologies and employed quite heterogeneous experimental design, they provide at large overlapping results. In the general population, about 60%-70% of patients with anxiety, depression and other neurotic disorders and 30%-40% of psychotic patients do not receive any specialist mental health care, suggesting that the majority of subjects suffering from a psychiatric disorder do not receive the mental health care they need. CONCLUSIONS: Unmet needs for services show a higher frequency in patients with neurotic and depressive disorders, indicating a shortage in services delivery that should be taken into account both by psychiatrists and mental health planners. Moreover, the finding that a large number of patients suffering from psychotic disorders do not receive any kind of mental health care is of particular relevance for planning mental health services, since these subjects are usually the most problematic and difficult to treat.

Health Planning↗
PubMedDate not supplied

[Needs for care in psychiatric patients: a systematic review. II. Needs for care on individual].

OBJECTIVE: The present paper represents the second part of a larger review on the studies assessing needs for care in mental health field. In the first part, studies assessing needs for services in the general population were reviewed. In this second part studies assessing needs on individual level were reviewed and the role played by the assessment of individual needs in planning mental health care was discussed. METHODS: Studies published in international literature from January 1980 to June 1999 were reviewed. The studies were located through a computerised search of the databases MEDLINE and PsycLit; in addition, the reference lists of the studies located through the computerised search and the content of main international psychiatric journals were manually scanned in order to avoid possible omissions. Studies assessing needs in the general population and in psychiatric patients were reviewed separately. The latter were reviewed on the basis of the diagnostic category (psychotic and non psychotic patients) and setting of care (outpatients and inpatients). Studies on particular categories, such as homeless, children and adolescents, elderly and patients with aggressive behaviour, have been also reviewed. RESULTS: Psychotic patients show a wide range of both clinical and social needs. Patients followed by community-based mental health services show similar number of clinical and social needs, while inpatients (with the exception of acute patients) show more social needs. For both community-based mental health patients and inpatients, social needs are most frequently unmet and psychopharmacological treatments are used more frequently than psychotherapeutic or rehabilitative interventions. Non psychotic patients show lower number of needs than psychotic patients; these needs are both clinical and social, with a higher total number of clinical needs, but a higher number of unmet social needs. CONCLUSIONS: Studies on needs for care provide an interesting perspective on people suffering from mental illness. In the routine clinical practice needs assessment could be a valuable tool for providing specific, individualised and effective mental health care.

Humans↗
PubMedDate not supplied

DNA polymorphisms of apolipoprotein B and angiotensin I-converting enzyme genes and relationships with lipid levels in Italian patients with vascular dementia or Alzheimer's disease.

The distribution of three DNA polymorphisms (XbaI, EcoRI, and I/D) of the apolipoprotein B (APOB) gene, and of the I/D polymorphism of the angiotensin I-converting enzyme (ACE) gene was investigated in 53 patients with vascular dementia, in 80 patients with late-onset sporadic Alzheimer's disease, and in 153 age-matched control subjects. Furthermore, plasma total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides were measured in the three groups and the involvement of the genetic variation at APOB locus on lipid levels was determined. Major findings of this work are (1) no genotype or allele of the polymorphisms examined here seemed to be associated with vascular dementia or with Alzheimer's disease, (2) total cholesterol and LDL cholesterol levels were lower in Alzheimer's disease patients than in vascular dementia patients and in elderly controls, and (3) the dementia patients with APOB EcoRI R+R- genotype had higher total cholesterol and LDL cholesterol levels than R+R+ homozygotes.

Aged↗
PubMedDate not supplied

Polymorphisms of the apolipoprotein E gene regulatory region and of the LDL receptor gene in late-onset Alzheimer's disease in relation to the plasma lipidic pattern.

Two new polymorphisms in the regulatory region of the apolipoprotein E gene, -491 A/T and -427 T/C, have been reported to be associated with the risk of Alzheimer's disease (AD). Moreover, in vitro studies suggest that the two polymorphisms modulate the levels of apoE protein expression. We examined these two polymorphisms, as well as the MspI polymorphism in the LDL receptor gene, in a series of elderly patients with late-onset sporadic AD and in an age-matched control group but failed to find any kind of association between these genetic features and an increased risk of AD. In the same samples we investigated the relationships between various genotypes and plasma lipid levels. Since the well-known effect of the three-allelic APOE polymorphism on plasma lipid levels could mask the effect of other polymorphisms, the analyses were performed taking into account the APOE genotype. The two regulatory region polymorphisms had significant effects only on the apoE levels. The -427 TT homozygotes had lower, and the -491 AA homozygotes had higher levels of apoE than other genotypes. This result confirmed in vivo the already observed in vitro effects of -491 A/T and -427 T/C polymorphisms on APOE promoter transcription activity.

Age of Onset↗
PubMedDate not supplied

Performance of the AutoPap Primary Screening System in the detection of high-risk cases in cervicovaginal smears.

OBJECTIVE: To assess the performance of the AutoPap Primary Screening System (APSS) (TriPath Imaging, Inc., Burlington, North Carolina, U.S.A.) for the detection of high grade cervical squamous intraepithelial lesions and invasive cervical cancer. STUDY DESIGN: A total of 14,779 consecutive conventional Pap smears were processed by the APSS. All slides designated as "Review" by the device were manually screened according to the Bethesda System. The ranking scores obtained from the device were compared with the cytologic interpretations in all cases and with the final histologic diagnoses in the cases with cytologic severe abnormalities. RESULTS: The device classified 10,349 slides as Review (78%) and 2,912 (22%) as "No Further Review." In the 78% Review cases, the samples were ranked in descending order of potential abnormality, broken into quintiles. The correlation between the slide quintile ranks and the manual cytologic diagnosis indicated that 90% of abnormal smears were categorized by the device as in the first and second quintile rank, and the correlation between the rank report of the device and the histologic diagnosis showed that all cases of HSIL or invasive carcinoma were in the top two ranks. No significant abnormalities were observed in any of the smears categorized as No Further Review. CONCLUSION: This study confirmed the effectiveness of APSS for the detection of Pap smears with severe abnormalities.

Carcinoma, Squamous Cell↗
PubMedDate not supplied

Papillomatosis and breast cancer: a case report and a review of the literature.

Papillomatosis is a relatively common (22%) benign microscopic lesion in the breast and rarely seen in women less than 30 years old. It is a papillary proliferation of the ductal epithelium which partly fills up smaller ducts and to degree distends them. The histological classification of this entity is controversial because similar or identical lesions have been classified using different terms such as epitheliosis and epithelial hyperplasia, and interpretation of published series has been difficult due to imprecise definition of this term. Clinical, radiological and histological patterns of this entity are often sufficient to raise concern as to possible malignancy. Moderate or florid hyperplasia without atypia is considered to carry slight (1,5-2 times) increase in risk of later developing cancer, while in the atypical hyperplasia the risk is four to five times that of the general population. The authors describe a case of papillonlatosis recentely observed in a 67 years old female patient and, confirmed the importance to establish an accurate preoperative diagnosis. It is important that the surgeon works with the pathologist to produce clear descriptive report of epithelial changes from normal through hyperplasia to atypias in order to establish a precise surgical indication.

Aged↗
PubMedDate not supplied

A follow-up study of 49 adult patients with idiopathic thrombocytopenic purpura treated with high-dose immunoglobulins and anti-D immunoglobulins.

BACKGROUND: We analyze here short- and long-term results in 49 patients with idiopathic thrombocytopenic purpura (ITP), consecutively treated with high-dose (h.d.) immunoglobulins (Ig) or anti-D Ig. The major aims of this study were to assess the prognostic power of some patient characteristics and to verify the possibility that repeated courses of treatment can induce a stable remission. Moreover, the relative efficacy and safety of these two treatments were compared. PATIENTS AND METHODS: Group A included 28 patients with chronic ITP and 17 with ITP of recent onset who were receiving h.d. Ig; Group B included 5 patients with ITP of recent onset and 7 with chronic ITP treated with anti-D Ig. Eight cases, receiving both treatment, were included in both groups. Response to treatment was defined as any increase in platelet count above 30 x 10(9)/l, when the platelet count was less than 10 x 10(9)/l, or any doubling of the basal platelet count otherwise. Remission was defined as any platelet count higher than 100 x 10(9)/l lasting for 3 months or longer without therapy. RESULTS AND CONCLUSIONS: Cumulative response and remission rate was not statistically different in the two groups. Multivariate logistic regression analysis showed no influence of sex, previous therapy or duration of disease. Patients older than 60 years were definitely less responsive to h.d. Ig (58% vs 92%, p = 0.03). In Group A, two patients obtained remission after the first course of h.d. Ig. No additional remissions were obtained by repeated courses of h.d. Ig, apart from a single case of ITP of recent onset.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMedDate not supplied

An unusually prolonged case of heparin-induced thrombocytopenia and disseminated intravascular coagulation.

An unusually prolonged case of heparin-induced severe thrombocytopenia and decompensated disseminated intravascular coagulation (DIC) is described. The patient, treated with heparin at a dosage of 25,000 units/day for 3 days and 12,500 units/day for an additional 4 days because of a clinically suspected deep venous thrombosis, developed (4 days after the discontinuation of heparin) a clinical and laboratory picture of severe DIC, manifested by subcutaneous hematomas and ecchymoses. Platelet count was 24 x 10(9)/l, fibrinogen level 89 mg/dl and fibrin-degradation products between 3,200 to 6,400 ng/ml. A thorough laboratory and instrumental evaluation failed to demonstrate any underlying disorder. No heparin-dependent aggregating factor was detected in the serum of the patient. The patient recovered spontaneously. Whereas fibrinogen and fibrin-degradation products reverted to normality within four weeks, platelet count normalization was delayed until the sixth week after heparin discontinuation.

Aged↗