Metacarpophalangeal pattern profile analysis in hypochondroplasia, dyschondrosteosis and Turner syndrome

The skeletal system, including the hand skeleton, is affected by a large number of skeletal dysplasias. Clinical and radiological abnormalities of the skeletal system in hypochondroplasia (HCP), dyschondrosteosis (LWD) and Turner syndrome (TS) may be rather subtle and difficult to recognize, particularly in young individuals, which can lead to an unnecessary delay of the diagnosis. Metacarpophalangeal pattern profile analysis (MCPP) proved to be useful in these cases. Tubular bones of the hand are measured on hand radiographs, normalized, and expressed in standard deviation scores (Z scores). Results, when presented graphically, reveal even minimal alterations of the bone lengths. In our first study we collected Swedish metacarpophalangeal length standards to be used for MCPP analysis in Swedish patients. Two sets of normative data, including total and diaphyseal bone lengths, have been presented. We compared Swedish standards with previously published norms and demonstrated that metacarpal and phalangeal bone lengths are population-specific and the choice of the standards, used in MCPP analysis, may significantly affect the final results. We therefore recommend using local standards whenever available in order to achieve the best results of MCPP analysis. In the next study we showed that hypochondroplasia has a distinct pattern profile which can be detected with MCPP analysis at any age. Discriminant analysis is capable of differentiating HCP from normal controls in 86%, from LWD in 85% and from TS in 90% of cases. We suggest that MCPP analysis should always be considered in patients with suspected HCP. In paper three we described MCPP in dyschondrosteosis. We demonstrated that it is distinct and significantly different from MCPP of normal controls. We showed that MCPP is not age-dependent feature and the specific pattern could be detected at any age, thus facilitating early diagnosis of LWD in patients with short stature. In our final study we showed that Turner syndrome has a characteristic pattern profile that can be detected by applying MCPP analysis at any age, regardless of the karyotype and severity of the phenotype. We suggest that MCPP analysis be applied in the girls with unexplained short stature whenever TS is suspected. We showed that hypochondroplasia, dyschondrosteosis and Turner syndrome have distinct pattern profiles significantly differing from that of normal controls and from each other. To our knowledge MCPP in dyschondrosteosis has not previously been described. Our studies showed MCPP to be an extremely constant feature that is not affected by increasing age or growth-promoting therapy. The shape of the profiles was not significantly correlated with the severity or presence of clinical or radiological abnormalities. MCPP demonstrated high sensitivity and specificity by discriminant analysis. Our results and previously published findings imply that hand pattern profile is determined early in fetal development and can be detected at birth by applying MCPP analysis. It can be used as a first choice method in girls with unexplained short stature for early diagnosis of hypochondroplasia, dyschondrosteosis and Turner syndrome. MCPP proved to be useful in distinguishing HCP, LWD and TS from each other. Computerized MCPP analysis increases the accuracy and reduces time consumption, thus making this method more effective, attractive and available for daily practice

The pleasure of the eighteenth-century texts: The conflation of literary and critical discourse in the early novelistic tradition

One of the prominent characteristics of contemporary literature is its assimilation to critical discourse. The self-reflexivity in literature, which transforms literary texts into acts of criticism, is paralleled by theory’s tendency to encroach on the literary domain. One of the findings of the poststructuralist literary theory is that descriptions of reading experience elude scientific language and are more aptly conveyed by metaphors. (A good example is Roland Barthes’ The pleasure of the text.) The conflation of literary and critical discourse is not, however, peculiar to postmodernity only. The same phenomenon is observable in the eighteenth-century writings. It turns out that the self-reflexivity evident at the times of the proclaimed “death of the novel” is manifest also in the times of its birth. The aim of my paper is to analyse the metafictional reflection on readerly pleasure incorporated in early novelistic texts

Motor inhibition and its contribution to recovery of dexterous hand use after stroke

International audienceAbstract Recovery of dexterous hand use is critical for functional outcome after stroke. Grip force recordings can inform on maximal motor output and modulatory and inhibitory cerebral functions, but how these actually contribute to recovery of dexterous hand use is unclear. This cohort study used serially assessed measures of hand kinetics to test the hypothesis that behavioural measures of motor modulation and inhibition explain dexterity recovery beyond that explained by measures of motor output alone. We also investigated the structural and functional connectivity correlates of grip force control recovery. Eighty-nine adults (median age = 54 years, 26% females) with first-ever ischaemic or haemorrhagic stroke and persistent arm and hand paresis were assessed longitudinally, at 3 weeks, and at 3 and 6 months after stroke. Kinetic measures included: maximal grip force, accuracy of precision and power grip force control, and ability to release force abruptly. Dexterous hand use was assessed clinically with the Box and Block Test and motor impairment with the upper extremity Fugl-Meyer Assessment. Structural and functional MRI was used to assess weighted corticospinal tract lesion load, voxel-based lesion symptom mapping and interhemispheric resting-state functional connectivity. Fifty-three per cent of patients had severe initial motor impairment and a majority still had residual force control impairments at 6 months. Force release at 3 weeks explained 11% additional variance of Box and Block Test outcome at 6 months, above that explained by initial scores (67%). Other kinetic measures did not explain additional variance of recovery. The predictive value of force release remained significant when controlling for corticospinal tract lesion load and clinical measures. Corticospinal tract lesion load correlated with recovery in grip force control measures. Lesions involving the parietal operculum, insular cortex, putamen and fronto-striatal tracts were also related to poorer force modulation and release. Lesions to fronto-striatal tracts explained an additional 5% of variance in force release beyond the 43% explained by corticospinal injury alone. Interhemispheric functional connectivity did not relate to force control recovery. We conclude that not only voluntary force generation but also force release (reflecting motor inhibition) are important for recovery of dexterous hand use after stroke. Although corticospinal injury is a main determinant of recovery, lesions to integrative somatosensory areas and fronto-parietal white matter (involved in motor inhibition) explain additional variance in post-stroke force release recovery. Our findings indicate that post-stroke upper limb motor impairment profiling, which is essential for targeted treatment, should consider both voluntary grasp generation and inhibition

Recovery and Prediction of Bimanual Hand Use After Stroke

International audienceObjective: To determine similarities and differences in key predictors of recovery of bimanual hand use and unimanual motor impairment after stroke. Method: In this prospective longitudinal study n = 89 first-ever stroke patients with arm paresis, were assessed at 3 weeks, 3 and 6 months after stroke onset. Bimanual activity performance was assessed with the Adult Assisting Hand Assessment Stroke (Ad-AHA), unimanual motor impairment with the Fugl-Meyer Assessment (FMA). Candidate predictors included shoulder abduction and finger extension measured by the corresponding FMA-items (FMA-SAFE, range 0-4) and sensory and cognitive impairment. MRI was used to measure weighted corticospinal tract lesion load (wCST-LL) and resting-state interhemispheric functional connectivity (FC). Results: Initial Ad-AHA performance was poor but improved over time in all (mild-severe) impairment subgroups. Ad-AHA correlated with FMA at each time-point (r>0.88, p<0.001) and recovery trajectories were similar. In patients with moderate-severe initial FMA, FMA-SAFE was the strongest predictor of Ad-AHA outcome (R2 = 0.81) and degree of recovery (R2 = 0.64). Two-point discrimination explained additional variance in Ad-AHA outcome (R2 = 0.05). Repeated analyses without FMA-SAFE identified wCST-LL and cognitive impairment as additional predictors. A wCST-LL above 5.5cc strongly predicted low-to-minimal FMA/Ad-AHA recovery (≤10/20p, specificity = 0.91). FC only explained some additional variance to FMA-SAFE in unimanual recovery. Conclusion: Although recovery of bimanual activity depends on the extent of CST injury and initial sensory and cognitive impairments, FMA-SAFE captures most of the variance explained by these mechanisms.FMA-SAFE, a straightforward clinical measure, strongly predicts bimanual recovery. Classification of Evidence: This study provides Class I evidence that the FMA-SAFE predicts bimanual recovery after stroke