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Background: Cerebellar atrophy is characterized by loss of cerebellar tissue, with evidence on brain imaging of enlarged interfolial spaces compared to the foliae. Genetic ataxias associated with cerebellar atrophy are a heterogeneous group of disorders. We investigated the prevalence in Canada and the diagnostic yield of whole exome sequencing (WES) for this group of conditions. Methods: Between 2011 and 2017, WES was performed in 91 participants with cerebellar atrophy as part of one of two national research programs, Finding of Rare Genetic Disease Genes (FORGE) or Enhanced Care for Rare Genetic Diseases in Canada (Care4Rare). Results: A genetic diagnosis was established in 58% of cases (53/91). Pathogenic variants were found in 24 known genes, providing a diagnosis for 46/53 participants (87%), and in four novel genes, accounting for 7/53 cases (13%). 38/91 cases (42%) remained unsolved. The most common diagnoses were channelopathies in 12/53 patients (23%) and mitochondrial disorders in 9/53 (17%). Inheritance was autosomal recessive in the majority of cases. Additional clinical findings provided useful clues to some of the diagnoses. Conclusions: This is the first report on the prevalence of genetic ataxias associated with cerebellar atrophy in Canada, and the utility of WES for this group of conditions.
Our principle objective was to examine the personal and professional impact of service user (SU) suicide on mental health professionals (MHPs). We also wished to explore putative demographic or clinical factors relating to SUs or MPHs that could influence the impact of SU suicide for MHPs and explore factors MHPs report as helpful in reducing distress following SU suicide.
A mixed-method questionnaire with quantitative and thematic analysis was utilised.
Quantitative data indicated SU suicide was associated with personal and professional distress with sadness (79.5%), shock (74.5%) and surprise (68.7%) particularly evident with these phenomena lasting less than a year for more than 90% of MHPs. MHPs also reported guilt, reduced self-confidence and a fear of negative publicity. Thematic analysis indicated that some MHPs had greater expertise when addressing SU suicidal ideation and in supporting colleagues after experiencing a SU suicide. Only 17.7% of MHPs were offered formal support following SU suicide.
SU suicide impacts MHPs personally and professionally in both a positive and negative fashion. A culture and clear pathway of formal support for MHPs to ascertain the most appropriate individualised support dependent on the distress they experience following SU suicide would be optimal.
Infant protein intake has been associated with child growth, however, research on maternal protein intake during pregnancy is limited. Insulin-like growth factors (IGF) play a role in early fetal development and maternal protein intake may influence child body composition via IGF-1. The aim of this study was to investigate the association of maternal protein intake throughout pregnancy on cord blood IGF-1 and child body composition from birth to 5 years of age. Analysis was carried out on 570 mother–child dyads from the Randomised cOntrol trial of LOw glycaemic index diet study. Protein intake was recorded using 3-d food diaries in each trimester of pregnancy and protein intake per kg of maternal weight (g/d per kg) was calculated. Cord blood IGF-1 was measured at birth. Infant anthropometry was measured at birth, 6 months, 2 and 5 years of age. Mixed modelling, linear regression, and mediation analysis were carried out. Birth weight centiles were positively associated with early-pregnancy protein intake (g/d per kg), while weight centiles from 6 months to 5 years were negatively associated (B=−21·6, P<0·05). These associations were not mediated by IGF-1. Our findings suggest that high protein intake in early-pregnancy may exert an in utero effect on offspring body composition with a higher weight initially at birth but slower growth rates into childhood. Further research is needed to elucidate the exact mechanisms by which dietary protein modulates fetal growth.
To determine if response to a low glycaemic index (GI) dietary intervention, measured by changes in dietary intake and gestational weight gain, differed across women of varying socio-economic status (SES).
Secondary data analysis of the ROLO randomised control trial. The intervention consisted of a two-hour low-GI dietary education session in early pregnancy. Change in GI was measured using 3 d food diaries pre- and post-intervention. Gestational weight gain was categorised as per the 2009 Institute of Medicine guidelines. SES was measured using education and neighbourhood deprivation.
The National Maternity Hospital, Dublin, Ireland.
Women (n 625) recruited to the ROLO randomised control trial.
The intervention significantly reduced GI and excess gestational weight gain (EGWG) among women with third level education residing in both disadvantaged (GI, mean (sd), intervention v. control: −3·30 (5·15) v. −0·32 (4·22), P=0·024; EGWG, n (%), intervention v. control: 7 (33·6) v. 22 (67·9); P=0·022) and advantaged areas (GI: −1·13 (3·88) v. 0·06 (3·75), P=0·020; EGWG: 41 (34·1) v. 58 (52·6); P=0·006). Neither GI nor gestational weight gain differed between the intervention and control group among women with less than third level education, regardless of neighbourhood deprivation.
A single dietary education session was not effective in reducing GI or gestational weight gain among less educated women. Multifaceted, appropriate and practical approaches are required in pregnancy interventions to improve pregnancy outcomes for less educated women.
Cochlear implants have enabled an improved quality of life for many patients with deafness. Implant extrusion and skin flap necrosis are the most common complications associated with implant use. We report our management of patients presenting with complications as a result of cochlear implant insertion. The goal of surgery was to achieve a stable, healed wound for use as a cochlear device implantation site.
Methods and results:
We describe a series of patients presenting with skin flap necrosis and/or extrusion of their cochlear implant. The reconstructive options employed are discussed.
Surgeons should be aware of the reconstructive options available in such circumstances, and should choose appropriate management depending on the clinical situation, in order to optimise the functional result for the patient.
The article employs a general equilibrium model to describe Italy's response to commodity and factor market integration during the expansion of the Roman Empire. This novel approach constructs a comprehensive story of the Italian economy that corroborates established developments and sheds light on controversial and unanswered questions. The success of the model supports arguments that Romans were rational economic actors and that the Roman economy was a well-integrated market system.
Non-attendance at out-patient clinics is a seemingly intractable problem, estimated to cost £65 (€97) per incident. This results in under-utilisation of resources and prolonged waiting lists. In an effort to reduce out-patient clinic non-attendance, our ENT department, in conjunction with the information and communication technology department, instigated the use of a mobile telephone short message service (‘text’) reminder, to be sent out to each patient three days prior to their out-patient clinic appointment.
To audit non-attendance rates at ENT out-patient clinics following the introduction of a text reminder system.
Non-attendance at our institution's ENT out-patient clinics was audited, following introduction of a text message reminder system in August 2003. Rates of non-attendance were compared for the text message reminder group and a historical control group.
Before the introduction of the text message reminder system, the mean rate of non-attendance was 33.6 per cent. Following the introduction of the system, the mean rate of non-attendance reduced to 22 per cent.
Sending text message reminders is a simple and cost-effective way to improve non-attendance at ENT out-patient clinics.
The objective of this study was to determine the intracranial, cardiovascular and respiratory changes induced by conversion to high-frequency oscillator ventilation from conventional mechanical ventilation at increasing airway pressures.
In this study, 11 anaesthetized sheep had invasive cardiovascular and intracranial monitors placed. Lung injury was induced by saline lavage and head injury was induced by inflation of an intracranial balloon catheter. All animals were sequentially converted from conventional mechanical ventilation to high-frequency oscillator ventilation at target mean airway pressures of 16, 22, 28, 34 and 40 cm H2O. The mean airway pressure was achieved by adjusting positive end expiratory pressure while on conventional mechanical ventilation, and continuous distending pressures while on high-frequency oscillator ventilation. Cerebral lactate production, oxygen consumption and venous oximetry were measured and analysed in relation to changes in transcranial Doppler flow velocity. Transcranial Doppler profiles together with other physiological parameters were measured at each airway pressure.
Cerebral perfusion pressure was significantly lower during high-frequency oscillator ventilation than during conventional mechanical ventilation (CMV: 45, 34, 22, 6, 9 mmHg vs. HFOV: 33, 20, 19, 5, 5 mmHg at airway pressures mentioned above, P = 0.02). Intracranial pressure and cerebrovascular resistance increased with increasing intrathoracic pressures (P = 0.001). Cerebral metabolic indices demonstrated an initial increase in anaerobic metabolism followed by a decrease in cerebral oxygen consumption progressing to cerebral infarction as intrathoracic pressures were further increased in a stepwise fashion. Arterial PaCO2 increased significantly after converting from conventional mechanical ventilation to high-frequency oscillator ventilation (P = 0.001). However, no difference was observed between conventional mechanical ventilation and high-frequency oscillator ventilation when intracranial pressure, metabolic and transcranial Doppler indices were compared at equivalent mean airway pressures.
The use of high positive end expiratory pressure with conventional mechanical ventilation or high continuous distending pressure with high-frequency oscillator ventilation increased intracranial pressure and adversely affected cerebral metabolic indices in this ovine model. Transcranial Doppler is a useful adjunct to intracranial pressure and intracranial venous saturation monitoring when major changes in ventilation strategy are adopted.
To test the hypothesis of an association between schizophrenia and coeliac disease, the sera of 380 chronic schizophrenic in-patients in two mental hospitals in the West of Ireland have been screened for the presence of reticulin antibodies. Antibodies were found in 26 patients. Twenty-one of these patients were further studied by proximal duodenal mucosal biopsy. None of the biopsies showed the morphological and histological features found in untreated coeliac disease. The incidence of reticulin antibodies in schizophrenic patients and controls is similar. The findings of this study lead to the rejection of the hypothesis of a positive genetic relationship between schizophrenia and coeliac disease.
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