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Biomedical subjects

S Bertelli

Publications and source records attributed to S Bertelli.

12 recordsLinked to original sources
PubMed2001

Morbidity risk for obsessive-compulsive spectrum disorders in first-degree relatives of patients with eating disorders.

OBJECTIVE: A hypothesis that eating disorders are a phenomenological variant of obsessive-compulsive disorder (OCD) has been proposed. This study was conducted to determine whether anorexia nervosa and bulimia, the two main eating disorders, are familial and whether the risk for obsessive-compulsive spectrum disorders (OCD and tic disorders) is higher in families of patients with eating disorders. METHOD: The morbidity risk for obsessive-compulsive spectrum disorders in first-degree relatives of 136 female probands with eating disorders (84 with anorexia nervosa, 52 with bulimia) was compared to that for first-degree relatives of 72 female comparison subjects. RESULTS: The morbidity risk for obsessive-compulsive spectrum disorders was significantly higher among the 436 relatives of the eating disorder probands than among the 358 relatives of the comparison subjects (9.69% versus 0%). This finding was independent of any comorbid diagnosis of an obsessive-compulsive spectrum disorder in the eating disorder probands. The eating disorder group and the comparison group did not differ in familial risk for eating disorders and tic disorders. CONCLUSIONS: To better understand the genetic components of eating disorders, these disorders should be considered as part of the obsessive-compulsive spectrum of disorders.

Adolescent↗
PubMed2001

[Current epidemiologic features of septic abortion].

BACKGROUND: This article deals with the current epidemiological features of septic abortion. METHODS: Forty-two of 431 abortions (9,74%) were diagnosed as septic abortions during 1998 at the I and II Institute of Obstetrics and Gynecology, University of Rome La Sapienza , and are retrospectively analyzed. RESULTS: Thirty-four women (81%) came from an EEC country, whereas 8 (19%) from a developing country. Their mean age was 31,4 years (range: 18-43 years). Eighteen patients (43%) were nulliparous; 24 (57%) multiparous; 14 (33%) had previous abortions, none had previous septic abortions. Among risk factors, premature rupture of membranes was found in 5 cases (12%); whereas amniocentesis, HIV positivity, diabetes, positive urine culture and illegal pregnancy termination procedures were found in 5 further cases. No risk factors were found in 76% of patients. CONCLUSIONS: It is observed that, due to medical-scientific advances, previously unknown risk factors have emerged during the last three decades in Western Countries, such as invasive procedures of prenatal diagnosis, IUD contraception and AIDS immunodepression. However, other previously frequent risk factors, such as sepsis from illegal abortion, may emerge again in Countries where abortion is legal (such as Italy), due to massive immigration of clandestine women from developing Countries.

Abortion, Septic↗
PubMed2001

[Current clinical features of septic abortion in Western countries. A series of cases observed during 1998 at the 1st and 2nd department of obstetrics and gynecology of the University of Rome La Sapienza].

BACKGROUND: Advances in diagnostic techniques and therapy and the institution of both legislative measures and Centres for the protection of mother-infant health are major factors to which the reduced incidence of septic abortion in should probably be ascribed in Western Countries, where it reaches approximately 10%. The aim of this study was to analyse the current problems related to this pathology in a Western Country, such as Italy. METHODS: Cases of septic abortion observed at the I and II Department of Obstetrics and Gynaecology of University of Rome La Sapienza during 1998 were retrospectively analysed. RESULTS: 42 cases of septic abortion were observed. Fever was present in 100 % of cases, genital bleeding in 57 %, abdominal-pelvic pain in 16.7%, genital purulent discharge in one case (2.4%), pain of the fornices at vaginal examination in another (2.4%). Leucocytosis was detected in 21.5% of patients. Disseminated intravascular coagulation (DIC) occurred in one patient (2.4%). No maternal deaths were observed. Antibiotic therapy was carried out in 81% of cases, a uterine curettage in 95.2%. CONCLUSIONS: Currently, the possibility of early diagnosis of abortion due to the routine use of ultrasonography and, as a consequence, of early antibiotic therapy, whenever a sepsis is suspected, account for the predominance of mild or even doubtful clinical pictures of this pathology in Western Countries. Nevertheless, severe complications are possible in the case of septic abortion, including septicaemia, septic shock, DIC, renal insufficiency. Thus, a correct and careful attitude of prophylaxis and therapy is required.

Abortion, Septic↗
PubMed2000

Complex segregation analysis of obsessive-compulsive disorder in 141 families of eating disorder probands, with and without obsessive-compulsive disorder.

Probands affected with eating disorders (ED) present a higher number of relatives affected with obsessive-compulsive disorders/tic disorders than a comparison population. Therefore, we hypothesized that ED and obsessive-compulsive disorder (OCD) might share the same biological liability, and that a single major gene might account for that liability. We tested this hypothesis by applying a complex segregation analysis to 141 families of probands affected with ED (89 with anorexia nervosa, restricting and binge-eating types, 52 with bulimia nervosa). Given the hypothesized relationship between OCD and genetic spectrum disorders, we considered these diagnoses as affected phenotype in relatives. In Italian ED families, ED and OCD followed a Mendelian dominant model of transmission. When probands were divided according to co-diagnosis of OCD, best fit in the subgroup of families of 114 probands without OCD co-diagnosis was for a Mendelian dominant model of transmission whereas a Mendelian additive model of transmission represented best fit in the subgroup of families of 27 probands with an OCD co-diagnosis. Genetic transmission was not shown in those families where the only affected phenotype was ED. The existence of a Mendelian mode of genetic transmission within ED families supports the hypothesis that a common genetic liability could account for both ED and OCD.

Adult↗
PubMed2000

[Female genital mutilation and legislation].

This article deals with the legal aspect concerning female genital mutilations (FGM). Such a practice (a partial excision of the external genitalia) is highly widespread in Central Africa, especially in Ethiopia and Somalia, and currently involves approximately 130,000,000 women worldwide and, in Italy, about 30,000 women amongst the immigrant population. Since 1982 the World Health Organization (WHO), which condemns such a practice as injurious to women's rights and health, proposed that laws and professional codes prohibit it in all countries. Legislation, although insufficient as a sole measure, is considered indispensable for the elimination of FMG. Since a long time some western countries (Sweden, Great Britain, Belgium and Norway), involved by immigration from countries with FGM tradition, legislated with regard to FGM. In Italy, a specific law does not exist; however, FGM are not allowed by the article 5 of the Civil Code. Nevertheless, recently, several cases of mutilations took place: this led some members of the Parliament to introduce a bill in order to specifically forbid FGM. The authors believe that legislation could effectively support the job of prevention and education, which physicians may carry out in order to save little girls from the risk of familial tradition of genital mutilations.

Africa↗
PubMed1999

Dopamine receptor D4 gene is not associated with major psychoses.

We previously reported an association between dopamine receptor D4 (DRD4) gene exon 1 variants and delusional disorder. The aim of this investigation was to study the DRD4 gene exon 1 and 3 variants in schizophrenia, delusional, bipolar, and unipolar disorders. We studied 651 inpatients affected by schizophrenia (n = 229), delusional (n = 86), bipolar (n = 210), and unipolar (n = 126) disorders (DSM III-R) and 471 healthy controls; these were typed for DRD4 variants at the first and third exon using polymerase chain reaction techniques. DRD4 variants were not associated with schizophrenic and delusional subjects even when possible confounders like gender and onset were considered. A marginal association between DRD4 exon 3 variants with unipolar (excess of DRD4*2/4, p = 0.004) and bipolar (excess of DRD4*2/4, p = 0.001) disorders was observed, both associations drop to insignificance when corrected for multiple testing. Our results exclude that coding variants of the DRD4 exon 1 and 3 may play a major role in conferring susceptibility to major psychoses; moreover, we could not replicate the association of DRD4 exon 1 variant with delusional disorder.

Adult↗
PubMed1999

Spatial working memory in asymptomatic HIV-infected subjects.

Many clinical and research findings converge to indicate that frontal lobe, basal ganglia, and related neuronal connections are primarily involved in human immunodeficiency virus (HIV) infection; frontal lobe, mainly the prefrontal cortex, has a specialized role in working memory processes. This study focused on neuropsychological evaluation of the spatial component of working memory in a sample of 34 asymptomatic HIV-infected subjects as compared with 34 age- and sex-matched seronegative control subjects. A computer-administered test assessing spatial working memory was used for the neuropsychological evaluation. The findings did not show any spatial working memory impairment during the asymptomatic phase of HIV infection.

Adult↗
PubMed1996

Sleep loss, a possible factor in augmenting manic episode.

Several reports suggest the role of sleep-wake rhythm in mood disorders. Sleep loss may be a possible trigger or augmenting factor in mania. In a group of 34 manic bipolar inpatients, we analyzed the correlation between night-time sleep duration and the intensity of manic symptomatology rated consecutively for 3 days with the Young Rating Scale for Mania and the Nurses' Observation Scale for Inpatient Evaluation (NOSIE). We found significant correlations between sleep duration and NOSIE cluster scores (cooperation and irritability).

Adult↗
PubMed1995

Computerized guidelines for preventative care in general practice.

Computer-based guidelines for preventative care is an example of the way in which protocols can be put to use in an effective and useful way. However, computerised medical protocols will only be used on a large scale if they are integrated with the computer-based medical record. The AIM-project ISAAC is working on the development of integrated tools for use in Primary Health Care, and especially General Practice. One of the tools under development is prevention. In this article, prevention is used as an example of the implementation of protocols. After a short definition of prevention, the implementation of preventative modules (or protocols) in the ISAAC GP information system is discussed. There are several conditions or critical factors if the implementation of prevention (and protocols) in a GP information system and in a GP practice is to be successful. In the discussion, some of the opportunities that are emerging with the use of information systems and telematics in primary health care are also discussed, together with the potential of ISAAC and the crucial role that must be played by healthcare providers.

Europe↗
PubMed1994

The definition of a general practice medical workstation: the ISAAC approach.

Within the principal objective of ISAAC of developing information technology support for the General Practice, the project aims at the definition of a Global Architecture valid for GPs all around Europe. This is achieved with the definition of a Functional Reference Model describing GP's functions. Professionals from the Primary Health Care (PHC) area are extensively involved in the project. Prototypes have been and will be defined to test the project approach in real life conditions. The prototypes test the usability of a local information processing environment and the integration with other components of the Health Care System.

Europe↗
PubMed1993

Developing a general practice medical workstation: the integration aspect.

ISAAC (Integrated System Architecture for Advanced Primary Care) is a project aiming at developing information technology and telematic support in the specific field of General Practice--and more broadly in the Primary Health Care sector--within the health care systems of different European Countries. The project aims at improving the work of the General Practitioners through the development of a useful and usable medical workstation for day-to-day patient care. Moreover ISAAC has the goal of prototyping an integration architecture for the improvement of the communications between the ISAAC workstation and heterogeneous application environments, namely other components of the health care system. This paper deals with a general description of the design along with a discussion of the adopted approach to fulfill the integration requirements.

Ambulatory Care Information Systems↗