A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.

Mutations in STXBP1 have recently been identified as a cause of infantile epileptic encephalopathy. The underlying mechanism of the disorder remains unclear and, recently, several case reports have described broad and progressive neurological phenotypes in addition to early-onset epilepsy. Herein, we describe a patient with early-onset epilepsy who subsequently developed a progressive neurological phenotype including parkinsonism in her early teens. A de novo mutation in STXBP1 (c.416C>T, p.(Pro139Leu)) was detected with exome sequencing together with profound impairment of complex I of the mitochondrial respiratory chain on muscle biopsy. These findings implicate a secondary impairment of mitochondrial function in the progressive nature of the disease phenotype.

Motor planning ability is not related to lesion side or functional manual ability in children with hemiplegic cerebral palsy.

Optimal task performance requires anticipatory planning to select the most appropriate movement strategy. There is conflicting evidence for hemispheric specialisation of motor planning, with some suggesting left hemisphere dominance, claiming that children with right hemiplegic cerebral palsy (HCP) are therefore disproportionally affected. An alternative view is that there is a positive relationship between functional ability (rather than side of lesion) and motor planning skill. We aimed to compare children with right and left HCP on motor planning ability and to explore its relationship with functional manual ability. Participants were 76 children with HCP (40 left HCP; 30 female), aged 4-15 years (Mean 9.09, SD 2.94). Motor planning was assessed using a measure of end-state comfort, which involved turning a hexagonal handle 180° without readjusting grasp. This is difficult, or in some cases impossible, to achieve unless an appropriate initial grasp is adopted. Children completed 24 turns (12 clockwise), which were video recorded for offline scoring. Functional manual ability was assessed with the ABILHAND-Kids questionnaire, completed by parents. Contrary to the existing literature, no differences were observed between right and left HCP. However, a significant interaction between direction of turn and side of hemiplegia indicated a preferential bias for turns in the medial direction, consistent with the "medial over lateral advantage". There was no relationship between functional ability and motor planning. Therefore, motor planning may not be a priority for therapeutic intervention to improve functional ability in HCP.

Feasibility Trial of Thumb Taping by Parents in Infants with Cerebral Palsy: Brief Report.

Aim: To determine the feasibility and acceptability of parent-delivered elastic taping to the thumb and wrist in infants with cerebral palsy (CP).Design: Randomized cross-over feasibility trial.Participants: 20 infants (11 male; mean age 22 months) with CP.Intervention: Groups A and B received taping for 4 and 2 weeks, respectively.Outcomes: Primary: Recruitment and retention rates; adherence to protocol; Parent Satisfaction Questionnaire. Secondary: House Thumb score; Zancolli classification; Assisting Hand Assessment (AHA)/mini AHA. Exploratory: Duration of hand regard, thumb in palm, and open hand contact with toys during AHA/mini AHA.Results: Recruitment was feasible (95.2% uptake). Completion rates were 80% and 60% in Groups A and B. Questionnaire feedback was generally positive. Some parents reported increased awareness of the taped hand. Objective improvements were rare though one participant showed consistent improvement in thumb position.Conclusion: Taping proved feasible and acceptable; individual case benefit suggests further research is required.Trial registration: ISRCTN41918400.

Dehydrated hereditary stomatocytosis with transient perinatal ascites.

The case is reported of a mother and baby with dehydrated hereditary stomatocytosis and perinatal ascites, an autosomal dominant condition not previously reported in Britain. Recognition is important for the management of pregnancy and for avoidance of splenectomy which, if performed, can predispose the patient to fatal thromboembolic events.

On interspecies correlations of carcinogenic potencies.

It has been established in the literature that constraints on the designs of experiments used to estimate carcinogenic potencies cause overestimation of true biological interspecies correlations of such potencies. This article explores the potential for appreciable underestimation of interspecies correlations, due to the experimental error that occurs in the estimation of carcinogenic potencies.

Estimating the probability of occurrence of tumor for a rare cancer with zero occurrence in a sample.

In many physical situations one needs to estimate the probability of occurrence of a rare event based on a random sample when the event has not occurred at all. For example, if the true lifetime incidence of a tumor at a particular tissue site is less than 1%, it is not uncommon to observe no tumors in a typical sample size of 50 animals. This paper explores the suitability of nonzero Bayesian estimation procedures to replace zero maximum likelihood estimates for tissue sites with nonzero background tumor incidences.

Estimation of acute toxicity by fitting a dose-time-response surface.

In acute toxicity testing, organisms are continuously exposed to progressively increasing concentrations of a chemical and deaths of test organisms are recorded at several selected times. The results of the test are traditionally summarized by a dose-response curve, and the time course of effect is usually ignored for lack of a suitable model. A model which integrates the combined effects of dose and exposure duration on response is derived from the biological mechanisms of aquatic toxicity, and a statistically efficient approach for estimating acute toxicity by fitting the proposed model is developed in this paper. The proposed procedure has been computerized as software and a typical data set is used to illustrate the theory and procedure. The new statistical technique is also tested by a data base of a variety of chemical and fish species.