Other genomic disorders and congenital heart disease

Congenital heart disease (CHD) is the common birth defect worldwide. Despite its recognized burden on public health, the etiology in the vast majority of individuals remains unknown. Chromosomal abnormality plays an important role, frequently observed as large cytogenetically visible rearrangement or small submicroscopic structural variation in the genome. Several genomic disorders are now recognized that are increasingly responsible for CHD with variable penetrance. Single gene disorders, epigenetic alterations, and environmental etiologies are also significant contributors. Our understanding of the genetic basis of CHD has increased exponentially with the escalating use of next generation sequencing to identify ever so small submicroscopic genomic imbalances at the level of coding exons in CHD. This review focuses on genomic disorders other than 22q11.2 deletion, that are major players in the etiology of human cardiac malformations.     

Pre-screening via sleep logs in sleep-disordered patients—Adaptational effects, yes or no?

Summary Question of the study  Sleep logs are common tools in sleep research and clinical routine. Usually sleep logs have to be completed during a 2-week period, with the first week serving as an adaptation to the instrument itself. In the present study, we investigated whether there is indeed such an adaptation bias or not. Patients and methods  A total of 236 chronically sleep-disordered outpatients completed the standardized sleep log ‘Abend-Morgen-Protokoll’ during a 2-week pre-screening period prior to the first visit in our sleep ambulance. Two sets of items were established, the ‘instrumental’ and the ‘therapeutic’ set. The respective ratings of the first and second week (week A, B) were compared to evaluate clinically relevant changes. Results  The ratings of several ‘instrumental’ items significantly differed between week A and B. However, these changes—on average—were only marginal and therefore of little clinical importance. Regarding the ‘therapeutic’ set of items, no systematic variations could be ascertained over the assessment period. Conclusion  The present investigation could not confirm the presence of adaptation biases (instrumental, therapeutic) in a large sample of chronically sleep-disordered outpatients. Therefore, we consider a 1-week pre-screening period via sleep log as sufficient for the diagnostic process in these patients.      

Procedure for the quantitative evaluation of motor disturbances in cerebellar ataxic patients

Cerebellar ataxia is a complex motor disturbance that involves the planning and execution of movements and reduces movement accuracy and co-ordination. The quantification of ataxic signs is commonly realised through visual examination of motor tasks performed by the patient and assignment of scores to specific items composing the international co-operative ataxia rating scale (ICARS). The present work studied an experimental procedure to characterise specific aspects of motor disturbances in ataxia objectively. Four tests belonging to the ICARS were considered: walking, knee-tibia test, finger-to-nose and finger-to-finger test. Through a kinematic analysis performed during the above tests, specific indices were defined to quantify velocity, linearity, asymmetry, tremor, instability and smoothness of movement or posture. The procedure was applied to five patients with cerebellar ataxia and to ten healthy adult subjects. Results demonstrated that the patients moved significantly more slowly than the healthy subjects (0.67 against 0.97 m s⁻¹ and 0.81 against 1.02 m s⁻¹, respectively, for straight walk and finger-to-nose tests) and showed poorer linearity and smoothness behaviour. Velocity, linearity, tremor, smoothness and instability indices showed moderate to good correlation with the corresponding ICARS score. Some of these indices can separately evaluate aspects that are combined in single ICARS subscores. It is concluded that the combination of clinical assessments and instrumental evaluations allows a better insight into ataxic patients' motor disturbances and is a useful tool for the definition and follow-up of rehabilitation programmes.     

Immunomodulation of autoimmune and inflammatory diseases with intravenous immunoglobulin

Abstract Intravenous immunoglobulin (IVIg) has been used in the treatment of primary and secondary antibody deficiencies for over two decades. Since the early 1980s, the therapeutic efficacy of IVIg has been established in idiopathic thrombocytopenic purpura, Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, myasthenia gravis, dermatomyositis and Kawasaki syndrome, and the prevention of graft versus host disease in recipients of allogeneic bone marrow transplants. Its use has also been reported in a large number of other autoimmune and systemic inflammatory conditions. In this review, we discuss the mechanisms by which IVIg exerts immunomodulatory effects in immune pathologies.     

No evidence for allelic association between bipolar disorder and monoamine oxidase a gene polymorphisms

We have tested the hypothesis that DNA markers in the MAOA gene show allelic association with bipolar affective disorder. Eighty-four unrelated Caucasian patients with DSM III-R bipolar disorder and 84 Caucasian controls were typed for three markers in MAOA: a dinucleotide repeat in intron 2, a VNTR in intron 1, and an Fnu4HI RFLP in exon 8. No evidence for allelic association was observed between any of the markers and bipolar disorder. © 1995 Wiley-Liss, Inc.     

Computed tomographic scans in ECT-patients

Although the safety and efficacy of electroconvulsive therapy (ECT) is acknowledged by most, concern has repeatedly been expressed that the treatment may have some lasting effects on the brain. To study potential morphological changes, 22 patients with a history of ECT were submitted to a detailed clinical evaluation and a brain CT scan examination. Age- and sex-matched control subjects comprised a group of comparable patients, none of whom had received ECT, and a second control group of healthy volunteers. Patients had larger ventricle/brain ratios and cortical "atrophy" scores than normal controls, but no association was found between these radiological measures and a previous history of ECT. Hence, the present data are consistent with recent reports that affective disorders may be associated with enlarged brain ventricles, although the clinical significance of such findings remains unclear. In line with previous investigations age correlated significantly with cortical "atrophy" scores and ventricle/brain ratios for all subjects. Statistical tests of correlations between duration of illness, previous psychotropic drug exposure and CT scan appearances were mainly inconclusive.     

Prevalence of mental disorder in an urban population in central Sweden

The principal reason for this epidemiological study was the lack of psychiatric morbidity studies in a predominantly urban population, by psychiatrists in direct interviews. The psychiatric examination, covering 1970-71, included a representative selection of 2,283 persons, 18-65 years old from "former" Stockholm County, and the 12-month prevalence of mental disorders was measured. The total of non-participants was 12%. Forty-seven percent had a psychiatric diagnosis - significantly more women (54%) than men (40%). Excluding the psychosomatic diagnoses, 31% of the population received a psychiatric diagnosis, which agrees closely with other contemporary studies of mental disorder in the Nordic countries. The primary diagnoses were: neuroses 26%, psychosomatic diagnoses 16%, schizophrenic/paranoid conditions or other psychoses 0.6%, affective disorders 0.2%, psychoorganic syndromes 1.2%, psychopathy 0.2%, character neurosis 1%, drug dependence 0.2% (as a primary or a secondary diagnosis 0.6%), alcoholism 1.4% (as a primary or a secondary diagnosis 3.1%) and mental retardation 0.4% (as a primary or a secondary diagnosis 0.8%).     

Gastrointestinal Contributions to the Postprandial Experience

Food ingestion induces homeostatic sensations (satiety, fullness) with a hedonic dimension (satisfaction, changes in mood) that characterize the postprandial experience. Both types of sensation are secondary to intraluminal stimuli produced by the food itself, as well as to the activity of the digestive tract. Postprandial sensations also depend on the nutrient composition of the meal and on colonic fermentation of non-absorbed residues. Gastrointestinal function and the sensitivity of the digestive tract, i.e., perception of gut stimuli, are determined by inherent individual factors, e.g., sex, and can be modulated by different conditioning mechanisms. This narrative review examines the factors that determine perception of digestive stimuli and the postprandial experience.     

Discrepancies Between Australian Eating Disorder Clinicians and Consumers Regarding Essential Components of Dietetic Treatment

BackgroundA recent Delphi study indicated that, compared with eating disorder (ED) consumers and carers, ED specialists were less likely to endorse involvement of a dietitian as a standard component of treatment. In addition, there was disagreement between these groups regarding the inclusion of a number of components of dietetic treatment.ObjectiveThis study aimed to further investigate these data to identify areas of disagreement among ED specialist dietitians, ED specialist non–dietetic clinicians, consumers, and carers with regard to outpatient dietetic treatment.Design and participants/settingThe ED specialists panel from a previous Delphi study was recoded into 2 panels: ED specialist dietitians (n = 31) and ED specialist non–dietetic clinicians (n = 48) to compare responses of these panels with responses from consumers (n = 32) and carers (n = 23).Main outcome measuresStatements in 7 categories relating to referral to dietitian, essential components of outpatient dietetic treatment regarding 4 ED patient populations, strategies to promote multidisciplinary collaboration, and skills dietitians should possess if treating patients with an ED were rated on a 5-point Likert scale.Statistical analysis performedOne-way analysis of variance was conducted with post-hoc multiple comparisons to compare mean statement ratings.ResultsThirty-seven statements (30%) showed statistically significant differences (P < .05) in responses between panels. Discrepancies were primarily observed for statements regarding how and when dietetics is included in treatment and essential components of dietetic treatment, particularly the use of behavioral tasks, such meal plans and self-monitoring. Results also highlighted deficits in participants’ understanding of core responsibilities of dietitians in ED treatment and dietitians “drifting” from delivering evidence-based components of dietetic treatment.ConclusionsResults of this study show discrepancies among ED dietitians, clinicians, consumers, and carers regarding what dietetic treatment for people with EDs should encompass. It also indicates the need for further research into optimizing dietetic treatment for EDs that is conducted in collaboration with individuals with lived experience.