Background: Sydenham's chorea (SC) is the most common type of acquired chorea in childhood. In some cases, symptoms (most commonly described in terms of neurological signs) last up to 2 years, and many cases relapse. This report describes the clinical course in terms of functional abilities following diagnosis of SC. Case report: Standardized assessments across the domains of activity and participation were administered following diagnosis, prior to and following treatment with haloperidol to measure treatment response and identify occupational therapy intervention needs. SC was observed to significantly reduce the child's participation and independence in activities of daily living. In this case, the standardized assessments administered highlighted difficulties with both motor and process skills. At 1 week after commencing haloperidol, both motor and process skills had improved. Clinically significant changes in self-care and mobility were noted with less improvement with handwriting. At 9 weeks, most symptoms and functional difficulties had resolved. Discussion: Given the process difficulties detected in this case, and the possibility of enduring symptoms, the use of functional assessments is advocated in the routine management of SC. These findings illustrate the potential for motor and non-motor sequelae in acute childhood movement disorders and related functional disabling consequences.
We tested the hypothesis that maximal exercise performance in adults with cystic fibrosis is limited by arterial hypoxemia. In study 1, patients completed two maximal exercise tests, a control and a test with 400 ml of added dead space. Maximal O2 consumption was significantly lower in the added dead space study vs. control (1.04 +/- 0.15 vs. 1.20 +/- 0.11 l/min; P < 0.05), with no difference in peak ventilation. There was significant O2 desaturation during exercise that was equal in both control and added dead space studies. The decrease in maximal O2 consumption with added dead space suggests that maximal exercise in cystic fibrosis is limited by respiratory factors. We subsequently examined whether pulmonary mechanics or arterial hypoxemia limits maximal exercise performance. In study 2, patients completed two maximal exercise tests, a control and a test with 400 ml of added dead space while also breathing 38% O2. Added dead space was used to overcome the suppressive effects of hyperoxia on minute ventilation. Maximal O2 consumption was significantly higher with added dead space and 38% O2 vs. control (1.62 +/- 0.16 vs. 1.43 +/- 0.14 l/min; P < 0.05). Peak ventilation and O2 saturation were significantly greater in the added dead space and 38% O2 test vs. control. The increase in maximal O2 consumption and peak ventilation with added dead space and 38% O2 suggests that maximal exercise in cystic fibrosis is limited by arterial hypoxemia.
Diagnostic accuracy of a lethal skeletal dysplasia (SD) is critical, as it significantly affects parental counselling and decision-making regarding continuation of the pregnancy. The various potential etiologies underlying an initial diagnosis of short long bones can make prognostic counselling difficult. The aim of this study was to determine the outcome of fetuses referred to a tertiary fetal diagnostic unit with short long bones, and to determine the predictors of these outcomes. This is a retrospective cohort study performed at a tertiary referral centre. Cases of short long bones referred to the fetal diagnostic unit were identified through a search of their database from 1/1/2010 to 31/12/2019. Maternal data, pregnancy of interest data, and neonatal data were extracted from electronic medical records. The primary outcome was the proportion of patients with SD (lethal and non-lethal), fetal growth restriction, other chromosomal, and constitutional/normal. The secondary outcome was ultrasound predictors of these outcomes. 198 patients were referred to the fetal diagnostic unit with short long bones between 2010 and 2019. 10.1% had SD (40% of these were lethal, 60% were non-lethal). 34.8% had fetal growth restriction, 8.1% had other chromosomal or other congenital defects, and 32.3% were normal/constitutional. 14.6% had no birth data. The overall detection rate for SD was 95% and the diagnosis of lethality was 100%. All cases of SD were associated with other abnormalities (non-isolated short femur). The findings most predictive of SD were femur length to foot length ratio <0.9 (65%), femur length >4 standard deviations below the mean (55%), and femur length to abdominal circumference ratio <0.16 (45%). This study suggests that the most common outcome of patients referred with short long bones was fetal growth restriction or normal/constitutional. Antenatal ultrasound diagnosis of SD, particularly lethality, was high. All cases of SD were associated with other abnormalities on ultrasound.
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