Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome

Background

The prevalence, phenomenology aetiology and correlates of four forms of challenging behaviour in 32 children and adults with Smith-Magenis syndrome (SMS) were investigated.

Methods

Cognitive assessments, questionnaires and semi-structured interviews were used to gather data on intellectual disability, verbal and physical aggression, destructive behaviour and self-injury and on characteristics known to be associated with aggression.

Results

Aggression in SMS was more prevalent (87%), but not more severe than aggression in contrast groups. Aggressive behaviour was more frequently associated with environmental contingencies (e.g. attention, escape and access to tangibles) than self-injury and destructive behaviours. Severity of challenging behaviours was associated with high impulsivity.

Conclusion

Aggression is seen in the majority of people with SMS. Results suggest that behavioural disinhibition and operant social reinforcement are associated with the manifestation of aggression.

Endocranial lesions: their distribution and aetiology

Reactive new bone on the endocranial surface of the skull in non-adults has recently received a lot of attention in the palaeopathological literature. These features appear as layers of new bone on the original cortical surface, expanding around meningeal vessels, as isolated plaques, 'hair-on-end' extensions of the diploe or, as 'capillary' impressions extending into the inner lamina of the cranium. These lesions are commonly found on the occipital bone, outlining the cruciate eminence, but have also been recorded on the parietal and frontal bones, and appear to follow the areas of venous drainage. Although recognized as resulting from haemorrhage or inflammation, their precise aetiology is still a matter of controversy. This paper outlines their possible causes and examines their nature and distribution in a group of non-adults from four archaeological sites in England. It is recommended that, when recording these lesions in the future, additional skeletal pathologies, the age of the child, and nature and distribution of the lesions also be taken into account. Copyright (C) 2004 John Wiley Sons, Ltd.

The aetiology and treatment of developmental stammering in childhood

Developmental stammering (DS, also known as idiopathic stammering or stuttering) is a disorder of speech fluency that affects approximately 0.75% to 1% of the populations of Great Britain, Australia and America,(1-4) although a recent study puts the point prevalence figure at between 1% and 3% in the UK.(5) Prevalence is generally thought to be similar amongst communities worldwide, although there have been occasional suggestions that this figure might be lower in countries where there is less pressure on verbal acuity.(6) DS may be distinguished from neurogenic stammering, which can occur subsequent to neurological damage of various aetiologies (for example, stroke, tumour, degenerative disease) and psychogenic stammering, whose onset can be related to a significant psychological event such as bereavement. While a diagnosis of neurogenic stammering might be made in early childhood and adolescence, both neurogenic and psychogenic types are typically associated with an adult onset. DS is by far the most common form of stammering and usually develops in the pre-school years. The mean age at onset is 4 2, with 75% of cases beginning before the age of 6.(1) However, occasionally, stammering onset may be seen as late as 12 or 13 years of age.

Commentary: not just genes - reclaiming a role for environmental influences on aetiology and outcome in autism. A commentary on Mandy and Lai (2016)

Mandy and Lai (2015) do the field a service in 'reclaiming' the role of pre- and postnatal environmental influences on the aetiology and course of autism spectrum conditions (ASC). This follows several decades where now discredited theories about putative psychogenic and biological disease models held sway, not least in the public mind. We discuss issues that arise from their review; including the need to identify how large the environmental influences on ASC are likely to be; the specificity of these environmental influences to ASC as opposed to a broader range of neurodevelopmental conditions and outcomes; how best to study complex interactions between genetic and environmental influences; and the promise of novel insights into their mechanisms of action. The review highlights current research that aims to better our understanding of the role of environmental factors in the aetiology and course of ASC and, in the near future, may offer the potential for personalised medicine approaches to intervention based on these discoveries.

Factor XIII Val34Leu is a genetic factor involved in the aetiology of venous thrombosis

A mutation in the factor XIII gene (FXIII Val34Leu) gene was recently reported to confer protection against myocardial infarction, but its relationship with venous thrombosis is unknown. In addition, a mutation in the 5'-untranslated region of the FXII gene (46 C→T) was identified which is associated with low plasma levels of the protein. Its prevalence in patients with venous thrombosis is also unknown. We investigated the frequency of the FXIII Val34Leu and FXII 46 C→T mutations in 189 patients with deep venous thrombosis and in 187 age-, gender- and race-matched controls. FXIII Val34Leu was detected in 38.6% of the patients and in 41.2% of the controls. Interestingly, homozygosity for the FXIII mutation was found in 1.6% of the patients and in 9.6% of the controls. yielding an odds ratio (OR) for venous thrombosis of 0.16 (95% CI: 0.05-0.5). The OR for heterozygotes was 1.1 (95% CI: 0.7-1.7). The FXII 46 C→T mutation was detected in 46.0% of the patients and in 48.6% of the controls. The OR for heterozygotes was 0.9 (95% CI: 0.6-1.4) and for homozygotes the OR was 0.8 (95% CI: 0.3-1.9). Our data indicate that the FXII 46 C→T mutation is unlikely to be a major risk factor for venous thrombotic disease. In contrast, the homozygous state for FXIII Val34Leu is a strong protective factor against venous thrombosis, which emerges as a novel generic factor involved in the aetiology of thrombophilia.

Aetiology of molar-incisor hypomineralisation (MIH) in Brazilian children

Aim: To determine the potential aetiological factors related to molar-incisor hypomineralisation (MIH) in Brazilian children. Methods: A total of 1,151 children aged 7-12 years (mean 8.86 ± 1.28), born and living in the urban area of Araraquara, Brazil, were examined by two examiners evaluating the presence of MIH according to criteria suggested by the European Academy of Paediatric Dentistry (2003). Their mothers completed a structured questionnaire about medical history, from pregnancy to the first 3 years of the children's life. Descriptive analyses of data and odds ratios (OR) with 95 % test-based confidence intervals (CI) were estimated. Chi-square test was used to evaluate the differences between groups. Results: The prevalence of MIH in the children was 12.3 %. The interviewing response rate was 90.4 %. The prevalence of miscarriage history (25 vs. 15.4 %; OR = 1.21; 95 % CI 0.30-4.92) and occurrence of anaemia (23 vs. 12.4 %; OR = 2.07; 95 % CI 0.50-8.63) were higher in mothers from MIH group than those from non-MIH group. However, these associations were not statically significant. In the children's medical history, rhinitis, bronchitis (56.5 vs. 52.5 %; OR = 1.17; 95 % CI 0.82-1.68), and high fever (20.4 vs. 18.2 %; OR = 1.14; 0.73-1.76) were more prevalent in MIH group, but there were no significant differences between the groups (p > 0.05). Conclusions: No possible aetiological factor investigated was associated with MIH. Prospective studies are needed to define the aetiological factors involved with MIH. © 2013 European Academy of Paediatric Dentistry.

Dental implant fractures: aetiology, treatment and case report

Purpose: This study aimed to investigate the etiology, clinical manifestations, and treatment options of dental implants fractures through a literature review and to relate a clinical report. Methods: A literature review was performed using the Medline database and this paper describes a case demonstrating the management of implant fracture. Twenty two articles were selected in the present literature review. Results: Nowadays the use of dental implants to rehabilitate completely and partially edentulous patients became the best treatment option; however, this treatment is suitable to failure. The fracture of implant body is a possible complication. The fracture of implant body is a late complication and is related to the failure in implant design or material, non-passive fitting of the prosthetic crown and overloading. Clinically, prosthesis instability and spontaneous bleeding are observed. Three options of treatment have been indicated: complete removal of implant fragment, maintenance of implant fragment, and surface preparation of the fragment with insertion of a new abutment. Conclusion: The literature indicates the complete removal of the fragment as the best treatment option.

Different degrees of malnutrition and immunological alterations according to the aetiology of cirrhosis: a prospective and sequential study

Abstract Objectives In this work we investigated how immunological dysfunction and malnutrition interact in alcoholic and viral aetiologies of cirrhosis. Methods To investigate the matter, 77 cirrhotic patients divided in three aetiologies [Alcohol, HCV and Alcohol + HCV) and 32 controls were prospectivelly and sequentially studied. Parameters of humoral immunity (Components 3 and 4 of seric complement and immunoglobulins A M, G and E) and of cellular immunity (total leukocytes and lymphocytes in peripheral blood, T lymphocytes subpopulations, CD4+ and CD8+, CD4+/CD8+ ratio and intradermic tests of delayed hypersensitivity), as well as nutrititional parameters: anthropometric measures, serum albumin and transferrin were evaluated. Results Multiple statistical comparisons showed that IgM was higher in HCV group; IgG was significantly elevated in both HCV and Alcohol + HCV, whereas for the Alcohol group, IgE was found at higher titles. The analysis of T- lymphocytes subpopulations showed no aetiologic differences, but intradermic tests of delayed hypersensitivity did show greater frequency of anergy in the Alcohol group. For anthropometric parameters, the Alcohol +HCV group displayed the lowest triceps skinfold whereas creatinine – height index evaluation was more preserved in the HCV group. Body mass index, arm muscle area and arm fat area showed that differently from alcohol group, the HCV group was similar to control. Conclusion Significant differences were found among the main aetiologies of cirrhosis concerning immunological alterations and nutritional status: better nutrition and worse immunology for HCV and vice-versa for alcohol.

Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy

Background: Hypertrophic cardiomyopathy (HCM) is a common cardiac disease caused by a range of genetic and acquired disorders. The most common cause is genetic variation in sarcomeric proteins genes. Current ESC guidelines suggest that particular clinical features (‘red flags’) assist in differential diagnosis. Aims: To test the hypothesis that left ventricular (LV) systolic dysfunction in the presence of increased wall thickness is an age-specific ‘red flag’ for aetiological diagnosis and to determine long-term outcomes in adult patients with various types of HCM. Methods: A cohort of 1697 adult patients with HCM followed at two European referral centres were studied. Aetiological diagnosis was based on clinical examination, cardiac imaging and targeted genetic and biochemical testing. Main outcomes were: all-cause mortality or heart transplantation (HTx) and heart failure (HF) related-death. All-cause mortality included sudden cardiac death or equivalents, HF and stroke-related death and non-cardiovascular death. Results: Prevalence of different aetiologies was as follows: sarcomeric HCM 1288 (76%); AL amyloidosis 115 (7%), hereditary TTR amyloidosis 86 (5%), Anderson-Fabry disease 85 (5%), wild-type TTR amyloidosis 48 (3%), Noonan syndrome 15 (0.9%), mitochondrial disease 23 (1%), Friedreich’s ataxia 11 (0.6%), glycogen storage disease 16 (0.9%), LEOPARD syndrome 7 (0.4%), FHL1 2 (0.1%) and CPT II deficiency 1 (0.1%). Systolic dysfunction at first evaluation was significantly more frequent in phenocopies than sarcomeric HCM [105/409 (26%) versus 40/1288 (3%), (p<0.0001)]. All-cause mortality/HTx and HF-related death were higher in phenocopies compared to sarcomeric HCM (p<0.001, respectively). When considering specific aetiologies, all-cause mortality and HF-related death were higher in cardiac amyloidosis (p<0.001, respectively). Conclusion: Systolic dysfunction at first evaluation is more common in phenocopies compared to sarcomeric HCM representing an age-specific ‘red flag’ for differential diagnosis. Long-term prognosis was more severe in phenocopies compared to sarcomeric HCM and when comparing specific aetiologies, cardiac amyloidosis showed the worse outcomes.

On the aetiology of bovine neonatal pancytopenia (BNP)

Bovine Neonatal Pancytopenia (BNP) is a novel haemorrhagic disease in sucking calves, characterised by bleeding, haematological changes and high mortality. Dams that gave birth to BNP affected calves were immunized with PregSure® BVD, a highly adjuvanted vaccine against Bovine Viral Diarrhoea (BVD). We can show that bioprocess impurities in the vaccine, originating from the cell line used for vaccine production induces alloantibodies in vaccinated cattle. Via flow cytometry and immunoprecipitation we can demonstrate that PregSure® BVD immunization leads to BNP alloantibody production. BNP alloantibodies target highly polymorphic bovine MHC-I molecules (BoLA I). We sequenced eight BoLA I variants expressed by the production cell line and identified three alleles which are responsible for the majority of PregSure® BVD induced BoLA I reactivity. The BoLA I alleles of BNP unaffected calves are not recognized by the BNP associated alloantibodies of their respective dams. We also examined whether BNP alloantibodies cross-react with human cells, thus being a potential hazard for human colostrum consumers and could show that BNP alloantibodies are cross-reactive to human MHC-I and can even be found in commercial colostrum powder manufactured from cows immunized with PregSure® BVD. Overall we can demonstrate that BNP is a vaccine induced alloimmune disease.

Long-term outcome of acute encephalitis of unknown aetiology in adults

Encephalitis is caused by a variety of conditions, including infections of the brain by a wide range of pathogens. A substantial number of cases of encephalitis defy all attempts at identifying a specific cause. Little is known about the long-term prognosis in patients with encephalitis of unknown aetiology, which complicates their management during the acute illness. To learn more about the prognosis of patients with encephalitis of unknown aetiology, patients in whom no aetiology could be identified were examined in a large, single-centre encephalitis cohort. In addition to analysing the clinical data of the acute illness, surviving patients were assessed by telephone interview a minimum of 2 years after the acute illness by applying a standardized test battery. Of the patients with encephalitis who qualified for inclusion (n = 203), 39 patients (19.2%) had encephalitis of unknown aetiology. The case fatality in these patients was 12.8%. Among the survivors, 53% suffered from various neurological sequelae, most often attention and sensory deficits. Among the features at presentation that were associated with adverse outcome were older age, increased C-reactive protein, coma and a high percentage of polymorphonuclear cells in the cerebrospinal fluid. In conclusion, the outcome in an unselected cohort of patients with encephalitis of unknown aetiology was marked by substantial case fatality and by long-term neurological deficits in approximately one-half of the surviving patients. Certain features on admission predicted an unfavourable outcome.

Incidence, aetiology and pattern of mandibular fractures in central Switzerland

The two major causative factors for mandibular fractures, as stated in the literature, are either interpersonal violence or motor vehicle accidents. The purpose of this study was to describe epidemiological trends of mandibular fractures in Switzerland. A special emphasis was directed towards the potential impact of socio-economic standards on the mechanism and pattern of mandible fractures.

Dentin hypersensitivity: pain mechanisms and aetiology of exposed cervical dentin

OBJECTIVES The paper's aim is to review dentin hypersensitivity (DHS), discussing pain mechanisms and aetiology. MATERIALS AND METHODS Literature was reviewed using search engines with MESH terms, DH pain mechanisms and aetiology (including abrasion, erosion and periodontal disease). RESULTS The many hypotheses proposed for DHS attest to our lack of knowledge in understanding neurophysiologic mechanisms, the most widely accepted being the hydrodynamic theory. Dentin tubules must be patent from the oral environment to the pulp. Dentin exposure, usually at the cervical margin, is due to a variety of processes involving gingival recession or loss of enamel, predisposing factors being periodontal disease and treatment, limited alveolar bone, thin biotype, erosion and abrasion. CONCLUSIONS The current pain mechanism of DHS is thought to be the hydrodynamic theory. The initiation and progression of DHS are influenced by characteristics of the teeth and periodontium as well as the oral environment and external influences. Risk factors are numerous often acting synergistically and always influenced by individual susceptibility. CLINICAL RELEVANCE Whilst the pain mechanism of DHS is not well understood, clinicians need to be mindful of the aetiology and risk factors in order to manage patients' pain and expectations and prevent further dentin exposure with subsequent sensitivity.

Risk factors, aetiology and outcome of ischaemic stroke in young adults: the Swiss Young Stroke Study (SYSS).

Ischaemic stroke (IS) in young adults has been increasingly recognized as a serious health condition. Stroke aetiology is different in young adults than in the older population. This study aimed to investigate aetiology and risk factors, and to search for predictors of outcome and recurrence in young IS patients. We conducted a prospective multicentre study of consecutive IS patients aged 16-55 years. Baseline demographic data, risk factors, stroke aetiology including systematic genetic screening for Fabry disease and severity were assessed and related to functional neurological outcome (modified Rankin Scale, mRS), case fatality, employment status, place of residence, and recurrent cerebrovascular events at 3 months. In 624 IS patients (60 % men), median age was 46 (IQR 39-51) years and median NIHSS on admission 3 (IQR 1-8). Modifiable vascular risk factors were found in 73 %. Stroke aetiology was mostly cardioembolism (32 %) and of other defined origin (24 %), including cervicocerebral artery dissection (17 %). Fabry disease was diagnosed in 2 patients (0.3 %). Aetiology remained unknown in 20 %. Outcome at 3 months was favourable (mRS 0-1) in 61 % and fatal in 2.9 %. Stroke severity (p < 0.001) and diabetes mellitus (p = 0.023) predicted unfavourable outcome. Stroke recurrence rate at 3 months was 2.7 %. Previous stroke or TIA predicted recurrent cerebrovascular events (p = 0.012). In conclusion, most young adults with IS had modifiable vascular risk factors, emphasizing the importance of prevention strategies. Outcome was unfavourable in more than a third of patients and was associated with initial stroke severity and diabetes mellitus. Previous cerebrovascular events predicted recurrent ones.

The aetiology of infective diseases: with special reference to the subsidiary & important nonspecific factors.

Includes bibliography.