Echocardiographic changes in anorexia nervosa: a pathophysiological adaptation or a disease?

Anorexia Nervosa is one of the most common form of eating disorders. Cardiac involvement occurs in approximately 80% of patients. Few reports focused on the association between body weight fluctuations and echocardiographic abnormalities, considering linear measurements. We describe echocardiographic and clinical features among male and female patients with anorexia nervosa and the effect of weight gain on these parameters. We performed a single center, retrospective study of patients followed at a dedicated multidisciplinary Unit. The study population consisted of 81 patients, mean age 25 ± 11 years, 94% female. Median body mass index was 14.4 kg/m2 (25th-75th percentile 12.7-15.6 kg/m2). Patients with body mass index below the median value had more often pericardial effusion, smaller left ventricular mass and left ventricular end-diastolic volume and thinner interventricular septum. However, when indexed to body surface area, left ventricular mass and volumes were within the normal range in 90% of population. Patients with pericardial effusion showed mitral valve abnormalities and lower values of white blood cells and platelets, although within normal limits. Presence of pericardial effusion was not related to inflammatory parameters or low plasma protein levels. In 39 patients who displayed weight gain during a median follow-up of 189 days (25th-75th percentile 47-471), increased left ventricular mass, interventricular septum thickness, white blood cells and platelet count and decreased pericardial effusion were observed. Patients with anorexia nervosa have a specific echocardiographic pattern which seems to be proportional to the body size, suggesting a pathophysiological adaptation to the lack of substrates.

Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene.

BACKGROUND: Familial hemiplegic migraine (FHM) is a group of genetic migraine, associated with hemiparesis and aura. Three causative different genes have been identified, all of which are involved in membrane ion transport. Among these, SCN1A encodes the voltage-gated Na+ channel Nav1.1, and FHM caused by mutations of SCN1A is named FHM3. For 7 of the 12 known FHM3-causing SCNA1 mutations functional consequences have been investigated, and even if gain of function effect seems to be a predominant phenotype, for several mutations conflicting results have been obtained and the available data do not reveal a univocal FHM3 pathomechanism. METHODS: To obtain a more complete picture, here, we characterized by patch clamp approach the remaining 5 mutations (Q1489H, I1498M, F1499 L, M1500 V, F1661 L) in heterologous expression systems. RESULTS: With the exception of I1498M, all mutants exhibited the same current density as WT and exhibited a shift of the steady state inactivation to more positive voltages, an accelerated recovery from inactivation, and an increase of the persistent current, revealing that most FHM3 mutations induce a gain of function. We also determined the effect of GS967, a late Na+ current blocker, on the above mentioned mutants as well as on previously characterized ones (L1649Q, L1670 W, F1774S). GS967 inhibited persistent currents of all SCNA1 FMH3-related mutants and dramatically slowed the recovery from fast inactivation of WT and mutants, consistent with the hypothesis that GS967 specifically binds to and thereby stabilizes the fast inactivated state. Simulation of neuronal firing showed that enhanced persistent currents cause an increase of ionic fluxes during action potential repolarization and consequent accumulation of K+ and/or exhaustion of neuronal energy resources. In silico application of GS967 largely reduced net ionic currents in neurons without impairing excitability. CONCLUSION: In conclusion, late Na+ current blockers appear a promising specific pharmacological treatment of FHM3.

How to Reach a Thousand-Second in-Plane Polarization Lifetime with 0.97-GeV/c Deuterons in a Storage Ring.

We observe a deuteron beam polarization lifetime near 1000 s in the horizontal plane of a magnetic storage ring (COSY). This long spin coherence time is maintained through a combination of beam bunching, electron cooling, sextupole field corrections, and the suppression of collective effects through beam current limits. This record lifetime is required for a storage ring search for an intrinsic electric dipole moment on the deuteron at a statistical sensitivity level approaching 10^{-29} e cm.

New Method for a Continuous Determination of the Spin Tune in Storage Rings and Implications for Precision Experiments.

A new method to determine the spin tune is described and tested. In an ideal planar magnetic ring, the spin tune-defined as the number of spin precessions per turn-is given by ν(s)=γG (γ is the Lorentz factor, G the gyromagnetic anomaly). At 970 MeV/c, the deuteron spins coherently precess at a frequency of ≈120 kHz in the Cooler Synchrotron COSY. The spin tune is deduced from the up-down asymmetry of deuteron-carbon scattering. In a time interval of 2.6 s, the spin tune was determined with a precision of the order 10^{-8}, and to 1×10^{-10} for a continuous 100 s accelerator cycle. This renders the presented method a new precision tool for accelerator physics; controlling the spin motion of particles to high precision is mandatory, in particular, for the measurement of electric dipole moments of charged particles in a storage ring.

Perfectionism as a mediator between perceived criticism and eating disorders.

OBJECTIVE: In this work we aimed to test the hypothesis that perfectionism plays a third variable role in the psychological process leading from perceived criticism to eating disorders (ED). METHOD: Forty-nine individuals with ED and 49 controls completed the Concern over Mistakes subscale of the Multidimensional Perfectionism Scale, the Perceived Criticism Inventory, and the Drive for Thinness, Bulimia, and Body Dissatisfaction subscales of the Eating Disorders Inventory. Mediational and moderational models were tested. RESULTS: Analyses revealed that perfectionism mediates between perceived criticism and drive for thinness. Results for bulimia and body dissatisfaction were controversial. Moderational models were rejected. DISCUSSION: Results suggest that restrictive dieting is related to a process in which perceived criticism is the initial factor and perfectionism is an intervening mediator.

Multidisciplinary approach in the treatment of patients with small cell bladder carcinoma.

Small cell carcinoma of the urinary bladder (SCCUB) is considered to be a tumor with a neuroendocrine phenotype characterised by aggressive behaviour and poor prognosis. Small cell carcinoma of the urinary bladder comprises 0.35 to 1% of all bladder cancers and is frequently observed in combination with other histological subtypes of carcinoma. Clinical presentation is characterized by advanced stage at diagnosis and rapidly progressive disease. In daily clinical practice there is no gold standard for the management of patients affected by this disease. Treatment of patients with limited disease combines neoadjuvant platinum-based chemotherapy followed by specific local treatment of the primary tumour. Cystectomy or radiotherapy should be proposed on an individual basis. In the metastatic setting, prognosis remains poor with a potential benefit from chemotherapy containing platinum compounds. Treatment of small cell carcinoma of the urinary bladder is based on evidence obtained from case reports and retrospective analyses. Due to low disease frequency there is a lack of randomized trials to provide guidance as to optimal therapy. Thus, systemic and local approaches are extrapolated from the literature available for the treatment of small cell carcinomas at other (non-urological) sites. We provide an overview of the currently available literature with it's main focus on the treatment of either locally advanced or metastatic small cell carcinoma of the urinary bladder.

The relationship between alexithymia and maladaptive perfectionism in eating disorders: a mediation moderation analysis methodology.

OBJECTIVE: This work aimed to explore the relationship between alexithymia and maladaptive perfectionism in the psychological process leading to eating disorders (ED). METHOD: Forty-nine individuals with ED and 49 controls completed the Concern over Mistakes subscale of the Frost Multidimensional Perfectionism Scale, the Perfectionism subscale of the Eating Disorders Inventory, the total score of the Toronto Alexithymia Scale, and the Drive for Thinness, Bulimia, and Body Dissatisfaction subscales of the Eating Disorders Inventory. We tested a model in which alexythimia is the independent variable and perfectionism is the possible mediator or moderator. RESULTS: Analyses confirmed the assumed model. In addition, it emerged that perfectionism played a mediating or moderating role when measured by different instruments. This result suggested that different instruments measured subtly different aspects of the same construct. DISCUSSION: Results could suggest that alexithymia is a predisposing factor for perfectionism, which in turn may lead to the development of eating disorders.

The influence of stress on the relationship between cognitive variables and measures of eating disorders (in healthy female university students): a quasi-experimental study.

OBJECTIVE: Perfectionism, poor self-esteem and stress have all been described as important risk factors for eating disorders. The purpose of this study was to assess whether a stressful situation is significantly correlated to and associated with significantly higher levels of perfectionism, stress, quantifiable measures of eating disorders, and with significantly lower levels of self-esteem in a non-clinical sample. METHOD: Thirty-five female university students completed the Multidimensional Perfectionism Scale, the Rosenberg Self-Esteem Scale, the Perceived Stress Scale, and the Eating Disorder Inventory two times; once on an average university day and once on the day of an exam. Descriptive statistics and t-tests were calculated to verify whether a stressful situation was associated with a significant difference in levels of perfectionism, self-esteem, stress, and measures of eating disorders. Bivariate correlations were calculated for both the stress and non-stress situation, to observe how the dimensions of perfectionism, self-esteem, and stress were associated with measures of eating disorders. RESULTS: During the stress situation, the study participants had, on average, significantly higher levels of concern over mistakes, body dissatisfaction, drive for thinness, and perceived stress. Bivariate correlations revealed that during the stress situation perceived stress, cognitive variables and measures of eating disorders showed significant correlations with each other that were absent in the non stress situation. DISCUSSION: The results of the present study suggest that the dimensions of pathological perfectionism, low self-esteem, and perceived stress are related to an increase in dieting thoughts and dissatisfaction with body aspect in non-clinical women during a performance that could potentially challenge the perception of their self-esteem. The stressful situation can be interpreted as an experience of invalidation, which could explain the connection between cognitive constructs and behaviours related to eating disorders.

Worry and eating disorders: a psychopathological association.

UNLABELLED: Worry is a mental process associated with anxiety disorders. The key feature of worry is the predominance of a negative-type and preoccupied thought about possible threatening future events. OBJECTIVE: Some studies have shown that worry may be a feature of eating disorders. This study aims to measure whether worry is significantly higher in eating disordered individuals than in a normal control group and whether worry is associated with the Eating Disorders Inventory. METHODS: Sixty-three individuals affected by an eating disorder (34 anorexics and 29 bulimics) completed the Penn State Worry Questionnaire, the Structured Clinical Interview for DSM, and the Eating Disorder Inventory. Thirty normal controls completed the Penn State Worry Questionnaire. RESULTS: Penn State Worry Questionnaire scores were significantly higher in eating disordered individuals than in controls. It was associated with all the symptoms of eating disorders and was correlated with all the EDI subscales, except for the subscale 'bulimia'. These findings suggest that worry is important for understanding the psychopathology of eating disorders.

[Asthma and pregnancy]. / Asma e gravidanza.

During pregnancy the asthma has an incidence of 1-4%. In addition to this pathology we find, during pregnancy, an increased incidence of complications both maternal and fetal. These complications, often serious, happen nearly exclusively in patients with severe asthma and/or badly controlled. Therefore, to reduce the risk of beginning of these complications it's necessary to assess correctly the gravity of asthma before becoming pregnant, to make a careful and periodic control of the respiratory function of the patient, to effect a suitable preventive and/or symptomatic pharmacological therapy and to establish specific sanitary-action measures able to prevent the disease becomes acute.

[Female genital mutilation: FGM patients treated at the "Umberto I" polyclinic of Rome: 1985-1996]. / Mutilazioni genitali femminili: pazienti con esiti di FGM ricoverate nel Policlinico "Umberto I" di Roma: periodo 1985-1996.

The article deals with the medical aspect regarding female genital mutilations (FGM). The cultural origin of this tradition is also considered. Such a practice lies in the partial or complete excision of the external genitalia: it is highly widespread in Central Africa, especially in Ethiopia and Somalia. Currently, approximately 130,000,000 women are involved worldwide. In Italy, it is estimated that about 30,000 women amongst the immigrant population are involved (1). Due to the increasing immigration of women from Countries with FGM tradition, knowledge of the pathologies related to such a practice has become urgently necessary to physicians of western Countries. The aim of this study was to analyze the short-term complications of FGM, which are severe and often even deadly, as well as the long-term ones, which are more likely to be faced in the clinical practice of a western Country physician. In particular, a sample of nine women who had undergone infibulation, amongst the patients admitted at the Departments of Obstetrics and Ginaecology of university of Rome "La Sapienza" during the period 1 January 1985-31 december 1996, has been analyzed. Five out of these women suffered form gynaecological pathologies, whilst four from obstetrical pathologies. Our data on complications associated with FGM are in agreement with those of the world literature and highlight how a more specific expertise is necessary for a correct health care of these women.

[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]. / Attuali caratteristiche cliniche dell'aborto settico nei paesi occidentali. Casistica 1998 del I e II istituto di clinica osterica e ginecologica dell'Università di Roma "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.

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.

[Current epidemiologic features of septic abortion]. / Attuali caratteristiche epidemiologiche dell'aborto settico.

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.

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.

[Female genital mutilation and legislation]. / Mutilazioni genitali femminili e legislazione.

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.

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.

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.

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).

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.