Heritability estimates for psychotic disorders: the Maudsley twin psychosis series.

BACKGROUND: Previous twin studies have supported a genetic contribution to the major categories of psychotic disorders, but few of these have employed operational diagnostic criteria, and no such study has been based on a sample that included the full range of functional psychotic disorders. METHODS: A total of 224 twin probands (106 monozygotic, 118 dizygotic) with a same-sex co-twin and a lifetime history of psychosis was ascertained from the service-based Maudsley Twin Register in London, England. Research Diagnostic Criteria psychotic diagnoses were made on a lifetime-ever basis. Main-lifetime diagnoses of DSM-III-R and International Statistical Classification of Diseases, 10th Revision schizophrenia were also made. Probandwise concordance rates and correlations in liability were calculated, and biometrical model fitting applied. RESULTS: A substantial genetic contribution to variance in liability was confirmed for the major diagnostic categories except Research Diagnostic Criteria depressive psychosis and unspecified functional psychosis, where familial transmission was confirmed, but the relative contribution of genetic and common environmental factors was unclear. Heritability estimates for Research Diagnostic Criteria schizophrenia, schizoaffective disorder, mania, DSM-III-R schizophrenia, and International Statistical Classification of Diseases, 10th Revision schizophrenia were all between 82% and 85%. None of the estimates differed significantly from any other. CONCLUSIONS: Heritability estimates for schizophrenia, schizoaffective disorder, and mania were substantial and similar. Population morbid risk estimates were inferred rather than directly measured, but the results were very similar to those from studies where morbid risks were directly estimated.

Severity of obstetric complications and risk of adult schizophrenia in male patients: a case-control study.

OBJECTIVE: Obstetric complications may be an etiologically important factor in the development of schizophrenia. The aim of this study was to evaluate whether the risk for developing schizophrenia in adult life is increased in individuals with more severe obstetric complications at birth. METHODS: To this end, mothers were interviewed to gather data about obstetric complications. The 'midwife protocol' of Parnas and colleagues was used to quantify the presence and entity of obstetric complications. We studied the frequency distribution and the severity of obstetric complications in 64 male DSM IV schizophrenic patients. The genetic load was reduced by using 81 brothers who were not psychiatric patients as controls. Odds ratios for the effects of obstetric complications, maternal age, birth order and birth weight were calculated using conditional logistic regression. RESULTS: The only factor found to have a significant effect on the risk of schizophrenia was the overall measure of obstetric complications at birth. The history of obstetric complications was higher in schizophrenic patients than in their siblings. CONCLUSION: The results seem to confirm the hypothesis that obstetric complications may contribute to increased vulnerability to the disease, in addition to genetic risk factors.

[Cardiac tamponade and rheumatoid arthritis: medical approach or pericardiectomy?]. / Tamponamento cardiaco e artrite reumatoide: approccio medico o pericardiectomia?

The authors report the case of a sixty-seven-year-old man with seronegative rheumatoid arthritis since 1967. After the treatment was discontinued, a symptomatic pericardial effusion developed during an exacerbation of rheumatoid arthritis. Histological findings suggested a rheumatoid origin. Consecutive pericardiocentesis and a concomitant adequate treatment resolved cardiac tamponade, at least during short-term follow-up. However, a long term observation will be necessary to exclude recurrent effusion or evolutive constrictive pericarditis.

Burnout and health status in Italian air traffic controllers.

This study investigated burnout in air traffic controllers (ATC's). There were 109 Italian ATC's who filled out the Rome Burnout Inventory, a new tool for burnout assessment, during breaks in the working environment. The questionnaire assessed: 1) emotional-mental exhaustion (EME); 2) physical exhaustion (PE); 3) social support by components of the social network; 4) work- and nonwork-related stressors; 5) self-reported psychosomatic and psychiatric disorders. Our data show that the burnout syndrome is closely and positively related to age, years spent in air traffic control, professional dissatisfaction, and to work stressors, but not to nonwork stressors. In our sample, burnout was negatively correlated with social support provided by friends and family. The PE construct seemed to be unreliable in detecting physical burnout in Italian ATC's. Using analysis of variance, subjects with self-reported psychosomatic disorders did not show higher levels of EME scores. Further, EME was positively correlated with self-perceived psychological distress (anxiety, depression and impulse discontrol), but not with physician-rated psychopathology, as revealed by psychoactive drug intake. We suggest that burnout is a construct independent from clinical anxiety or depression.

Epithelioid haemangioendothelioma of the lung imitating clinical features of pulmonary histiocytosis X.

A young male who was a heavy smoker presented with spontaneous right pneumothorax. A high resolution computed tomography scan showed disseminated nodules up to 1 cm in diameter; the greatest majority of which were sited in the centrilobular zone, though some abutted on the pleural surface. Surgical lung biopsies allowed a diagnosis of epithelioid haemangioendothelioma. The neoplastic tissue infiltrated the wall of bronchioles, partially obliterating them and the visceral pleura. These two histological aspects could be considered as concomitant mechanisms for the appearance of spontaneous pneumothorax. Epithelioid haemangioendothelioma should be added to the list of lung diseases in young heavy smokers that can begin with a spontaneous pneumothorax.

Frontal hemisphere lateralization and depressive personality traits.

To assess the relationship between hemispheric differences in information processing and interhemispheric asymmetries in terms of brain bioelectrical activity, we correlated scores on the MMPI Depression scale with interhemispheric asymmetry, measured as peak amplitude and latency of the P3 component of somatosensory evoked potentials (SEPs) at the frontocortical region of 14 healthy unselected volunteers (8 men and 6 women) who were about to start a course in autogenic training. The sample was subdivided into two groups on the basis of the median score on the MMPI Depression scale. Subjects scoring above the median showed a right lateralization at the frontocentral region and a significantly shorter P3 latency at the right hemisphere compared to the left.

[Genotypic sex and phenotypic sex: clinical, biochemical and molecular aspects in a patient with male hypogonadism and 46XX-45XO karyotype]. / Sesso genotipico e sesso fenotipico: aspetti clinici, biochimici e molecolari in un paziente con ipogonadismo maschile e cariotipo 46XX-45X0.

We report here the case of a patient with primary male ipogonadism, with small testes and deficient virilization of the external genitalia, but with 46XX, 45X0 karyotype. Hormonal determinations showed high LH and FSH and low testosterone levels. Ultrasonography confirmed the presence of small testes within the scrotum. Cytogenetic analysis demonstrated a female karyotype, with 90% 46XX, 10% 45X0 mosaicism. Using DNA probes for genes located on the Y chromosome, the presence of the "Sex-Determining Region" of the Y chromosome (SRY) was evidenced in the genomic DNA of this patient. By Fluorescence in Situ Hybridization (FISH), SRY locus was localized in the p terminal region of an X chromosome. SRY is the primary inducer of testis development; it acts as a transcription factor leading to a sequence of gene activations critical in the process of testicular differentiation and morphogenesis. A condition characterized by testicular development in subjects who lack a normal Y chromosome has been described; most of these patients are carriers of the short arm of the Y chromosome transferred to one of the two X chromosome, suggesting a form of X-Y paternal interchange. In our patient, the development of male gonade in the absence of an Y chromosome was explained by the demonstration of the SRY gene in an X chromosome.

[Pituitary pathology in elderly patients admitted in a division of internal medicine. Description of 3 cases]. / Patologia ipofisaria in anziani ricoverati presso una Divisione di Medicina Interna. Descrizione di tre casi.

Pituitary diseases are often unrecognized in the elderly, although if they can be at the basis of several pathological conditions. We report three clinical cases. Patient n. 1: 87 years old woman, in poor general condition. Thyroid function evaluation showed secondary hypothyroidism. Subsequent pituitary function evaluation demonstrated hypopituitarism with empty sella. The diagnosis was "hypopituitarism with secondary hypothyroidism and adrenocortical insufficiency, in empty sella" starting substitutive treatment with glucocorticoids and L-thyroxine, with improvement in her clinical conditions. Patient n. 2: 74 years old woman, with severe congestive heart failure. Her clinical history revealed hypothyroidism. An endocrine evaluation (in absence of therapy) demonstrated panhypopituitarism with secondary hypothyroidism and adrenocortical insufficiency in presence of empty sella. The patients was started on substitutive treatment and her conditions improved. Patient n. 3: 74 years old man with several atrial fibrillation episodes and hyperthyroidism. Thyroid function evaluation suggested secondary hyperthyroidism confirmed by the presence of a pituitary macroadenoma. The patient underwent surgical adenomectomy by trans-sphenoidal route. The clinical conditions of the patient improved, but a slight secondary hyperthyroidism was still present caused by the persistence of residual pathological tissue in the right cavernous sinus region confirmed by octreoscan suggesting the presence of a lesion endowed with somatostatin receptors. The patient was started on long acting octreotide treatment, which is still in progress. In conclusion, pituitary diseases pass often unrecognized in the elderly. Their prompt recognition and treatment can resolve dangerous situations for the patients.

Bee sting and relapse of nephrotic syndrome.

In a group of 180 children with nephrotic syndrome and followed up in one institution, 3 of them relapsed subsequently to a bee sting. Proteinuria disappeared after steroid therapy.

[Mental distress, psychoactive drug use and psychosomatic disorders in two groups of subjects at high risk for the burnout syndrome]. / Disagio mentale, uso di psicofarmaci e malattie psicosomatiche in due gruppi di soggetti a rischio per la sindrome del burnout.

This paper discusses the problem whether burnout is an evidence of a psychological distress subsequently resulting in a clear psychiatric disorder or can be deemed an already well-defined psychiatric syndrome. The aim of this study was: 1) To assess the frequency of psychological distress in two groups of subjects at high risk for burnout; such perceived psychological distress was self-rated as anxiety, depression or impulse dyscontrol by the subjects. 2) To evaluate whether subjects reporting anxiety, depression or impulse dyscontrol showed an higher emotional and mental exhaustion (EME); EME was intended as a marker of burnout. 3) To investigate relationships between self-reported psychoactive drug use or psychosomatic disorders and levels of EME score. 109 air traffic controllers (ATC) and 88 health service professionals (HSP) were given a questionnaire, the Rome burnout inventory (RBI) developed as an easy-to-administer, easy-to-complete self-rating tool to be filled out during breaks in working environments. RBI assessed: a) EME; b) physical exhaustion; c) social support by components of the social network; d) work- and non-work-related stressors; e) self-reported psychosomatic disorders and perceived psychological distress in terms of anxiety, depression, impulse dyscontrol; f) psychoactive drug use. EME was positively related to years in office and was higher in ATC independently from the different seniority between professional groups. By using a factorial ANOVA, subjects with self-reported psychological distress (anxiety, depression, impulse dyscontrol) showed higher levels of the EME score although these levels were not higher in individuals reporting psychoactive drug intake. These findings were the same in both the professional groups. Psychosomatic disorders were significantly more frequent in ATC (chi 2 with Yates' correction); this is likely to be due to an higher overall level of EME score in ATC but ATC and HSP with self-reported psychosomatic disorders did not show higher levels of EME score. There was a different way to refer to perceived psychological distress in the two professional groups. ATC mainly emphasized the role of impulse dyscontrol as a way to express the subjective feelings of an augmenting distress. Otherwise, HSP seemed to stress depression as the proper descriptor of their own psychological distress.

[Familial occurrence and obstetric complications in siblings discordant for schizophrenia]. / Familiarità e complicanze ostetriche nello studio di fratelli discordanti per schizofrenia.

Obstetric complications seem to play a relevant role in the development of schizophrenia. This study aimed to assess whether not only frequency but also severity of obstetric complications was different in schizophrenic patients when compared with their healthy siblings. Furthermore, we examined whether a family history positive for schizophrenia was related to an increased frequency or severity of obstetric complications in healthy siblings. Frequency and severity of obstetric complications were evaluated in 76 subjects (30 schizophrenics and 46 siblings). The diagnosis of schizophrenia were made according to DSM III-R. Mothers were interviewed to gather data about obstetric complications and the "midwife protocol" by Parnas et al. (1982) was used to quantify presence and entity of obstetric complications. Information regarding family history were collected from mothers. We used the method of segregation analysis to test the mode of inheritance. Complicated births were more frequently found in schizophrenics independently from a family history positive for schizophrenia or schizophrenia related personality disorders and obstetric complications were more severe in schizophrenics with respect to siblings. Obstetric complications occurred more frequently among schizophrenics without genetic risk; the same result was not found in healthy sibs. Our findings show that obstetric complications would play a major role in patients especially if they show a negative family history for schizophrenia. Moreover, a family history positive for schizophrenia or schizophrenia related personality disorder seems not to augment the frequency or severity of obstetric complications in healthy sibs.

[The relationship between anomalies in the autonomous nervous system and left ventricular dysfunction in patients with hypertrophic cardiomyopathy]. / Relazione tra anomalie del sistema nervoso autonomo e disfunzione ventricolare sinistra in pazienti con cardiomiopatia ipertrofica.

This study was undertaken to assess autonomic nervous system (ANS) activity and its relation to left ventricular function in 40 patients (mean age: 41 +/- 17 years) with hypertrophic cardiomyopathy (HC), in sinus rhythm, off-drugs. Patients were grouped according to the results of radionuclide angiography: 26 had an ejection fraction > 50% (Group A), whereas 14 had an ejection fraction < or = 50% (Group B). Evaluation of parasympathetic activity showed abnormalities in: heart rate (HR) response during Valsalva (< or = 1.1) in 2 Group A (8%) and 12 Group B (86%) patients (p < 0.001); HR variability during deep breathing (< or = 10 b/min) in 2 Group A (8%) and 14 Group B (100%) patients (p < 0.001); immediate HR response to standing (30:15 < or = 1.0) in 2 Group A (8%) and 6 Group B (43%) patients (p < 0.025). Assessment of sympathetic activity showed abnormalities in: systolic blood pressure fall to standing (> 20 mmHg) in 2 Group B (14%) patients only (NS); diastolic blood pressure response to handgrip (< 10 mmHg) in 4 Group B (29%) patients only (p < 0.025). Thus, in HC: impaired parasympathetic control is common in those patients showing left ventricular dysfunction; concurrent sympathetic abnormality may also occur in this subgroup of patients; ANS dysfunction seems to be merely an epiphenomenon which marks the severity of left ventricular derangement.

Aminergic tone correlates of migraine and tension-type headache: a study using the tridimensional personality questionnaire.

BACKGROUND: Aminergic neurotransmitter activity has been studied in many neuropsychiatric diseases by means of a self-administered questionnaire proposed by Cloninger. Given that central aminergic modulation plays a major role in the pathophysiology of primary headaches, we investigated the personality dimensions related to aminergic neurotransmitter activity in patients with migraine and tension-type headache. METHODS: From a consecutive series of 230 patients, we selected those presenting with migraine and tension-type headache according to the International Headache Society criteria. All patients were assessed by means of the Cloninger 100-item self-report Tridimensional Personality Questionnaire and a depression scale. The four dimensions of personality are novelty seeking (dopaminergic), harm avoidance (serotonergic), reward dependence (noradrenergic), and persistence (glutaminergic). RESULTS: One hundred twenty-one patients presenting with migraine and 42 with tension-type headache were recruited. The results indicate significantly higher harm avoidance scores (P<.001) in both patients with migraine and those with tension-type headache than in controls. Furthermore, patients with migraine had a significantly low score in the novelty seeking dimension (P<.001). When we compared only the two groups of patients with headache, we found that the persistence dimension alone was significantly higher in patients with migraine than in those with tension-type headache (P<.05). No differences were observed either in the overall scores of the other personality dimensions or in the depression scale scores. CONCLUSIONS: The Tridimensional Personality Questionnaire results support a role of the serotonergic system in both migraine and tension-type headache pathophysiology. A dysfunction of dopaminergic and glutaminergic tone seems to be a specific feature of migraine.