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Biomedical subjects

D Donati

Publications and source records attributed to D Donati.

At least 145 records · Page 8Linked to original sources

Immune function and renal transplantation in Fabry's disease.

A deficient leucocyte immunological function could cause the reported high rate of lethal infections following renal transplantation in patients affected by Fabry's disease. We have studied humoral immunity, peripheral lymphocyte subsets, mitogenic lymphocyte response in vitro and granulocyte function in three patients with Fabry's disease. The immunological state appears to be quite similar to that of the uraemic population in general, not showing any specific impairment.

Fabry Disease↗

Frequency of qh+ chromosomal variants in a) radioexposed, b) Down syndrome and c) control subjects.

"Paranormal" variants of human chromosomes, devoid of phenotypical effects (since what appears to vary is heterochromatic, non-genic DNA) are known to be heritable. Some very large variants (especially the qh+ variants on chromosomes 1 and possibly 16 and Y) were reported to be associated with increased reproductive pathology (sterility, fetal wastage, chromosomal aberrations). These variants are currently assessed by the C-band techniques; very large C-bands correspond to morphological alterations (elongation or deformation) of the chromosome. A study of qh+ morphological variants of chromosomes 1, 9 and 16 in 40 professionally radioexposed subjects, in 40 Down-syndrome patients and in 40 controls is reported, indicating that the frequency of each variant is lowest among controls, intermediate among professionally radioexposed subjects and highest among Down-syndrome patients. These findings, if confirmed, suggest a possible use of the qh+ variants as heritable indicators of chromosomal damage.

Chromosome Aberrations↗

[Incidence of the 9qh+ variant in subjects with occupational exposure to radiation and in cases of reproductive pathology].

The frequency of the 9qh+ variant was fond to be significantly increased (as compared to controls) in the following classes of subjects: R)professionally radioexposed individuals; P)patients with chromosomal aberrations; PP)parents of P; Cs)sterile or pluriabortive couples. While the increase of 9qh+ in P and PP individuals was already known, the findings in professionally radioexposed individuals and sterile or pluriabortive couples appear to be relatively new. Occurrence of 9qh+ might prove to be a useful indicator of chromosomal damage, while confirmation of these findings would entail stringent limitation of professional and diagnostic radioexposure.

Abortion, Habitual↗

[Interaction between the ABO and Rh-Hr blood group systems in pairs of monozygotic (MZ) and dizygotic (DZ) twins].

Previous studies have revealed significant deviations of twin pairs' blood group distributions. A comparison between monozygotic (MZ) and dizygotic (DZ) pairs in a sample of 688 twin pairs as to interaction between ABO and Rh indicates that the main contribution to total deviation comes from the MZ pairs, thus confirming a different behaviour of the two twin types in this respect.

ABO Blood-Group System↗

[Interaction of the genes of progressive muscular dystrophy (PMD) and blood groups (ABO)].

Verification of the hypothesis that the inheritance of the Progressive Muscular Dystrophies (PMD) may involve dispersed genes, throiugh the study of a sample of 105 patients revealed that 82% of the Duchenne type belong to blood group O, while 79% of the limb-girdle type belong to group A. The fact that the Duchenne gene is sex-linked while the ABO locus is on chromosome 9 confirms the "dispersed genes" hypothesis, with important implications for further research, for genetic counselin and possibly for prevention.

ABO Blood-Group System↗

[Incidence of the qh+ varients in the karyotype of subjects occupationally exposed to ionizing radiations].

The "qh+" variants in the human karyotype are generally held to be inherited and devoid of phenotypical effects, although more frequent in families with cases of chromosomal aberrations. The finding of an even higher frequency of apparent mosaicism for 9qh+ in the karyotype of individuals professionally exposed to radiation supports the hypothesis that the variant may be mutagen-induced, possibly reflecting a "first hit" in chromosomal damage. Further studies are under way to verify the hypothesis, in view of a possible use as an indicator of radiation damage and/or risk factor in genetic counseling.

Chromosome Aberrations↗

X-ray structure of the ternary complex Zn(II)-ATP-2,2'-bipyridyl and possible model for ATP transport.

Ternary complexes between metal ions, nucleotides and aromatic heterocyclic amines are being investigated by X-ray diffraction as possible models for enzyme-metal-substrate interactions. Kennard and coworkers have reported the crystal structure of the ATP disodium salt. Although more recently several crystal structures of binary and ternary complexes between metal ions and nucleoside monophosphates have been reported, no structure combining metal complexes with nucleoside di- or triphosphates has been reported. Most divalent metal ions catalyse the nonenzymatic transfer of phosphate from nucleoside polyphosphates to various acceptors. Therefore, these compounds in water solution undergo extensive hydrolysis in the presence of metal ions, leading to the formation of the monophosphates; for instance, at pH 6.5, Cu2+ accelerates the hydrolysis of ATP by a factor of about 300 (ref. 5). We report here the crystal and molecular structure of the complex [Zn(II)-H2ATP-2,2'-bipyridyl]2.4H2O, determined by single crystal X-ray analysis. The complex molecule provides a possible model for ATP transport and phosphate group transfer mechanism.

2,2'-Dipyridyl↗

Significance of the clonal and sporadic chromosome abnormalities in non-neoplastic renal tissue.

Trisomy 7, trisomy 10 and loss of the Y chromosome have been found by some authors in presumptive normal parts of human kidneys. We describe cytogenetic findings in short-term cultures from 58 biopsies obtained from non-neoplastic and neoplastic (renal cell carcinoma, RCC) tissues from the same kidney, the same types of tissues from independent kidneys, and tissue from kidneys without neoplasia. The results indicate the following. Non-neoplastic tissue from kidneys involved in RCC have (in mosaics) trisomies 5, 7, 10, 18 and loss of the Y as non-random clonal changes. They are not the result of local metastasis but are also found in kidneys with non-tumoral chronic pathologies and should thus not be considered specific for RCC. They are neither culturing artefacts nor a general phenomenon found in cultured normal solid tissues, but are acquired abnormalities, possibly related to various reactive cellular states in the tissues that are histologically normal.

Adult↗

Patterns of covariation of DSM-IV personality disorders in a mixed psychiatric sample.

The covariation patterns of DSM-IV personality disorders (PDs) were studied in 431 consecutively admitted psychiatric patients. The co-occurrence rate was greater than 50% for all DSM-IV PDs. Both bivariate association tests and loglinear models showed distinct significant covariation patterns among PDs which were stable across confounder strata. DSM-IV PD clusters were not replicated, with the exception of cluster A. Principal-component analysis (PCA) showed the presence of 3 latent dimensions, thus explaining the DSM-IV PD covariation patterns. These results seem to stress the inadequacy of the DSM-IV categorical model of PD assessment. The need for a reduction of axis II categories and the inclusion of a dimensional model in the diagnostic assessment of DSM-IV PDs are discussed.

Adult↗

Latent structure analysis of DSM-IV borderline personality disorder criteria.

The aim of this study was to evaluate the structure of DSM-IV borderline personality disorder (BPD) criteria. The study group consisted of 564 consecutively admitted inpatients and outpatients. BPD criteria discriminatory power was tested by using corrected item-to-total and item-to-diagnosis correlations. Weighted least-squares (WLS) confirmatory factor analysis (CFA) was used to assess the fit of DSM-IV BPD unidimensional model. The categorical model of BPD was tested by exploratory latent class analysis (LCA). Item analysis suggested a hierarchy in BPD criteria discriminatory power, even if with different rank order with respect to the DSM-IV model. CFA showed a unifactorial structure with congeneric items as the best fitting model for DSM-IV BPD criteria (chi2 = 18.89, df= 27, P > .87). LCA showed evidence for three latent classes; heterogeneity was observed only among subjects falling below DSM-IV diagnostic threshold for BPD. These results support the categorical model of BPD, even if with several differences with respect to DSM-IV.

Adult↗

3-(2-Carbamoylvinyl)-4,5-dimethylpyrrole-2-carboxylic acids as ligands at the NMDA glycine-binding site: a study on the 2-carbamoylvinyl chain modification.

Twenty 4,5-dimethylpyrrole-2-carboxylic acids (5a-t) with different 2-carbamoylvinyl chains in position 3 were prepared to further investigate the relationships between structure and in vitro affinity for the strychnine-insensitive glycine-binding site. None of these compounds was superior to (E)-3-(N-phenyl-2-carbamoylvinyl)-4,5-dimethylpyrrole-2-carb oxylic acid III (pKi = 6.70), which was taken as a reference standard, but overall the results obtained indicate that the N-phenyl-2-carbamoylvinyl substituent of III may be replaced with the N-(1-adamantyl)-2-carbamoylvinyl group as in 5h (pKi = 6.20) without considerable loss of affinity. This finding adds to previous knowledge.

Animals↗

[Request for psychiatric admission: data from eight general hospital psychiatric wards in Lombardy].

OBJECTIVE: To describe requests of admissions to eight General Hospital Psychiatric Wards (SPDC) in Lombardy, Italy, during November 1995. DESIGN: Descriptive prospective multicenter study. SETTING: SPDCs of Busto Arsizio (VA), Calcinate (BG), Desio (MI), Magenta (MI), Merate (LC), Milano San Paolo I, Pavia, Treviglio (BG). The global catchment area sums up to 11% of the whole regional area, and to 18% of the population. MAIN OUTCOME MEASURES: We used a previously developed flow chart with two major key points: who decided to go to the hospital? Did a doctor confirm this initiative? Main sociodemographic characteristics, ICD10 diagnosis and previous psychiatric admissions were collected for each admission. RESULTS: Admissions were 315, patients 246. In 9.5% of cases patients asked for admission without any medical advice. In one third of cases the ward psychiatrist was the first doctor to visit the patient. Compulsive admissions (TSO) were 45 (14.3%), although patient's initiative lacked in 55.6% of cases. A referral from Outpatient Departments (CPS) was present in 28.2%. First-ever admitted were 63 (25.6%): 20.7% sent by CPS, 16% by GPs, 11% by other non psychiatric wards. CONCLUSIONS: Although Goldberg & Huxley's model described General Hospital Psychiatric Wards as the last level of intervention, our data show that Italian SPDCs work as "front lines" services: less than one admission out of two were referred by a psychiatrist. Problems raised by "self-referred" patients are conspicuous and an evaluation of the filtering function of CPSs seems necessary. In this regard, a comparison with different modalities of Department organization could be useful.

Commitment of Persons with Psychiatric Disorders↗

The retrospective assessment of childhood attention deficit hyperactivity disorder in adults: reliability and validity of the Italian version of the Wender Utah Rating Scale.

To assess the reliability and validity of the Wender Utah Rating Scale (WURS), 759 Italian undergraduate students were administered the Italian version of the WURS. In this sample, the WURS showed good internal consistency reliability (Cronbach alpha =.888). Both 1-week (r =.981, P <.001) and 2-month (r =.924, P <.001) retest reliabilities were satisfactory. The mother/subject agreement on the WURS total score was large: intraclass r =.883, P <.001. The principal component (PC) analysis showed the presence of three positively correlated first-order PCs, and one second-order PC. This PC structure of the WURS was replicated in an independent sample of 300 consecutively admitted psychiatric inpatients and outpatients. Finally, in a sample of 132 secondary school students, the WURS showed a moderate correlation with the Conners Abbreviated Parent and Teacher Questionnaire (CAPTQ): r =.307, P <.001. In this sample, the WURS total score was negatively correlated with school performance (rho = -.460, P <.001) and conduct (rho = -.293, P <.005) indexes.

Adult↗