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Catatonia is a psychomotor dysregulation syndrome of diverse aetiology, increasingly recognised as a prominent feature of N-methyl-d-aspartate receptor antibody encephalitis (NMDARE) in adults. No study to date has systematically assessed the prevalence and symptomatology of catatonia in children with NMDARE. We analysed 57 paediatric patients with NMDARE from the literature using the Bush-Francis Catatonia Rating Scale. Catatonia was common (occurring in 86% of patients), manifesting as complex clusters of positive and negative features within individual patients. It was both underrecognised and undertreated. Immunotherapy was the only effective intervention, highlighting the importance of prompt recognition and treatment of the underlying cause of catatonia.
Familial factors have previously been implicated in the etiology of fatigue, of which a significant proportion is likely attributable to genetic influences. However, family studies have primarily focused on chronic fatigue syndrome, while univariate twin studies have investigated broader fatigue phenotypes. The results for similar fatigue phenotypes vary between studies, particularly with regard to sex-specific contributions to the heritability of the traits. Therefore, the current study aims to investigate the familiality and sex-specific effects of fatigue experienced over the past few weeks in an older Australian population of 660 monozygotic (MZ) twin pairs, 190 MZ singleton twins, 593 dizygotic (DZ) twin pairs, and 365 DZ singleton twins. Higher risks for fatigue were observed in MZ compared to DZ co-twins of probands with fatigue. Univariate heritability analyses indicated fatigue has a significant genetic component, with a heritability (h2) estimate of 40%. Sex-specific effects did not significantly contribute to the heritability of fatigue, with similar estimates for males (h2 = 41%, 95% CI [18, 62]) and females (h2 = 40%, 95% CI [27, 52]). These results indicate that fatigue experienced over the past few weeks has a familial contribution, with additive genetic factors playing an important role in its etiology.
Because individuals develop dementia as a manifestation of neurodegenerative or neurovascular disorder, there is a need to develop reliable approaches to their identification. We are undertaking an observational study (Ontario Neurodegenerative Disease Research Initiative [ONDRI]) that includes genomics, neuroimaging, and assessments of cognition as well as language, speech, gait, retinal imaging, and eye tracking. Disorders studied include Alzheimer’s disease, amyotrophic lateral sclerosis, frontotemporal dementia, Parkinson’s disease, and vascular cognitive impairment. Data from ONDRI will be collected into the Brain-CODE database to facilitate correlative analysis. ONDRI will provide a repertoire of endophenotyped individuals that will be a unique, publicly available resource.
Depression and fatigue have previously been suggested to share an underlying genetic contribution. The present study aims to investigate and characterize the familiality and genetic relationship between depression and fatigue. The familiality of depression and fatigue was assessed by calculating relative risks, measured by the prevalence ratio, within 643 monozygotic (MZ) and 577 dizygotic (DZ) twin pairs. Bivariate twin modeling was utilized to assess the magnitude of shared heritability between depression and fatigue. Finally, the relationship between depression and fatigue was investigated using the co-twin control method, to determine whether the association is explained by causal or non-causal models. We observed an increased risk of fatigue in co-twins of probands with depression and increased risk of depression in co-twins of probands with fatigue. Higher risks were observed in MZ compared to DZ twin pairs, and bivariate heritability analyses indicated significant genetic components for depression and fatigue, with heritability estimates of 48% and 41%, respectively. Importantly, a significant additive genetic correlation of 0.71 [95% CI = 0.51–0.92) and bivariate heritability of 21% [95% CI = 10–35%] was observed between depression and fatigue. Furthermore, results from the co-twin control method indicate a non-causal genetic relationship that likely explains the association between depression and fatigue. Notably, the contribution of shared genetic factors remained significant, independent of the overlapping symptoms, indicating that the relationship between co-occurring depression and fatigue is primarily due to shared genetic factors rather than overlapping symptomatology.
Common beans (Phaseolus vulgaris L.) are a nutrient-dense, low glycemic index food that supports healthy weight management in people and was examined for dogs. The objectives of this study were to evaluate the apparent total tract digestibility (ATTD) and nutrient utilisation of navy (NB) and black (BB) bean-based diets in overweight or obese companion dogs undergoing a weight loss intervention. A nutritionally complete, dry extruded dog food was used as the control (CON) diet and two isocaloric, nutrient matched bean diets, containing either 25% w/w cooked BB or NB powder formed the test diets. Diets were fed to adult, overweight companion dogs for either four weeks (short-term study, n = 30) or for twenty-six weeks (long-term study, n = 15) at 60% of maintenance calories for ideal weight. Apparent weight loss increased over time in both the short- and long-term studies (p < 0.001) but was not different between the three study groups: apparent weight loss was between 4.05% – 6.14% for the short-term study and 14.0% – 17.9% in the long-term study. The ATTD was within expected ranges for all groups, whereby total dry matter and crude protein ATTD was 7–8% higher in the BB diet compared to CON (P < 0.05), crude fat ATTD was similar across all diets, and nitrogen free extract ATTD was 5–6% higher in both BB and NB compared to CON (P < 0.05). Metabolisable energy was similar for all diets, and ranged from 3,434–3,632 kcal/kg. At the end of each study period, dogs had haemoglobin levels ≥12 g/dl, packed cell volume ≥36%, albumin ≥2.4 g/dl, ALP ≤ 300 IU/l and all median values for each group were within defined limits for nutritional adequacy. This investigation demonstrated that BB and NB diets were safe, digestible, and supported weight loss in calorically restricted, overweight or obese, adult companion dogs.
Studies on the role of diet in the development of chronic diseases often rely on self-report surveys of dietary intake. Unfortunately, many validity studies have demonstrated that self-reported dietary intake is subject to systematic under-reporting, although the vast majority of such studies have been conducted in industrialised countries. The aim of the present study was to investigate whether or not systematic reporting error exists among the individuals of African ancestry (n 324) in five countries distributed across the Human Development Index (HDI) scale, a UN statistic devised to rank countries on non-income factors plus economic indicators. Using two 24 h dietary recalls to assess energy intake and the doubly labelled water method to assess total energy expenditure, we calculated the difference between these two values ((self-report − expenditure/expenditure) × 100) to identify under-reporting of habitual energy intake in selected communities in Ghana, South Africa, Seychelles, Jamaica and the USA. Under-reporting of habitual energy intake was observed in all the five countries. The South African cohort exhibited the highest mean under-reporting ( − 52·1 % of energy) compared with the cohorts of Ghana ( − 22·5 %), Jamaica ( − 17·9 %), Seychelles ( − 25·0 %) and the USA ( − 18·5 %). BMI was the most consistent predictor of under-reporting compared with other predictors. In conclusion, there is substantial under-reporting of dietary energy intake in populations across the whole range of the HDI, and this systematic reporting error increases according to the BMI of an individual.