DYT1 mutation in French families with idiopathic torsion dystonia.
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A GAG deletion at position 946 in DYT1, one of the genes responsible for autosomal dominant idiopathic torsion dystonia (ITD), has recently been identified. We tested 24 families and six isolated cases with ITD and found 14 individuals from six French families who carried this mutation, indicating that 20% of the affected families carried the DYT1 mutation. Age at onset was always before 20 years (mean, 9+/-4 years). Interestingly, the site of onset was the upper limb in all but one patient. Dystonia was generalized in seven patients and remained focal or segmental in three patients. The absence of common haplotypes among DYT1 families suggests that at least six independent founder mutations have occurred. In addition, one Ashkenazi Jewish family carried the common haplotype described previously in Ashkenazi Jewish patients, but it was absent in the other family. Moreover, the dystonia remained focal in the latter family when compared with the usual generalized phenotype in patients with the common Ashkenazi Jewish haplotype. This indicates that there are at least two founder mutations in this population. (+info)
Acute systematic and variable postural adaptations induced by an orthopaedic shoe lift in control subjects.
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A small leg length inequality, either true or functional, can be implicated in the pathogenesis of numerous spinal disorders. The correction of a leg length inequality with the goal of treating a spinal pathology is often achieved with the use of a shoe lift. Little research has focused on the impact of this correction on the three-dimensional (3D) postural organisation. The goal of this study is to quantify in control subjects the 3D postural changes to the pelvis, trunk, scapular belt and head, induced by a shoe lift. The postural geometry of 20 female subjects (X = 22, sigma = 1.2) was evaluated using a motion analysis system for three randomised conditions: control, and right and left shoe lift. Acute postural adaptations were noted for all subjects, principally manifested through the tilt of the pelvis, asymmetric version of the left and right iliac bones, and a lateral shift of the pelvis and scapular belt. The difference in the version of the right and left iliac bones was positively associated with the pelvic tilt. Postural adaptations were noted to vary between subjects for rotation and postero-anterior shift of the pelvis and scapular belt. No notable differences between conditions were noted in the estimation of kyphosis and lordosis. The observed systematic and variable postural adaptations noted in the presence of a shoe lift reflects the unique constraints of the musculoskeletal system. This suggests that the global impact of a shoe lift on a patient's posture should also be considered during treatment. This study provides a basis for comparison of future research involving pathological populations. (+info)
Three-dimensional eye-head coordination during gaze saccades in the primate.
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The purpose of this investigation was to describe the neural constraints on three-dimensional (3-D) orientations of the eye in space (Es), head in space (Hs), and eye in head (Eh) during visual fixations in the monkey and the control strategies used to implement these constraints during head-free gaze saccades. Dual scleral search coil signals were used to compute 3-D orientation quaternions, two-dimensional (2-D) direction vectors, and 3-D angular velocity vectors for both the eye and head in three monkeys during the following visual tasks: radial to/from center, repetitive horizontal, nonrepetitive oblique, random (wide 2-D range), and random with pin-hole goggles. Although 2-D gaze direction (of Es) was controlled more tightly than the contributing 2-D Hs and Eh components, the torsional standard deviation of Es was greater (mean 3.55 degrees ) than Hs (3.10 degrees ), which in turn was greater than Eh (1.87 degrees ) during random fixations. Thus the 3-D Es range appeared to be the byproduct of Hs and Eh constraints, resulting in a pseudoplanar Es range that was twisted (in orthogonal coordinates) like the zero torsion range of Fick coordinates. The Hs fixation range was similarly Fick-like, whereas the Eh fixation range was quasiplanar. The latter Eh range was maintained through exquisite saccade/slow phase coordination, i.e., during each head movement, multiple anticipatory saccades drove the eye torsionally out of the planar range such that subsequent slow phases drove the eye back toward the fixation range. The Fick-like Hs constraint was maintained by the following strategies: first, during purely vertical/horizontal movements, the head rotated about constantly oriented axes that closely resembled physical Fick gimbals, i.e., about head-fixed horizontal axes and space-fixed vertical axes, respectively (although in 1 animal, the latter constraint was relaxed during repetitive horizontal movements, allowing for trajectory optimization). However, during large oblique movements, head orientation made transient but dramatic departures from the zero-torsion Fick surface, taking the shortest path between two torsionally eccentric fixation points on the surface. Moreover, in the pin-hole goggle task, the head-orientation range flattened significantly, suggesting a task-dependent default strategy similar to Listing's law. These and previous observations suggest two quasi-independent brain stem circuits: an oculomotor 2-D to 3-D transformation that coordinates anticipatory saccades with slow phases to uphold Listing's law, and a flexible "Fick operator" that selects head motor error; both nested within a dynamic gaze feedback loop. (+info)
Definitive diagnosis of intestinal volvulus in utero.
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Midgut volvulus with or without intestinal malrotation can occur in fetal life. Several reports have described congenital midgut volvulus showing non-specific sonographic findings of intestinal obstruction and perforation in utero. None of the previously reported cases, however, were definitively diagnosed as midgut volvulus by fetal sonography. We report two cases both exhibiting the sonographic 'whirlpool' sign, in utero. Color Doppler interrogation provided a clue to the viability of the involved intestinal segment. (+info)
Successful laparoscopic management of adnexal torsion during week 25 of a twin pregnancy.
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Adnexal torsion is a rare occurrence during pregnancy. Here we present a case of adnexal torsion during the 25th week of pregnancy, which was managed laparoscopically. The woman had achieved a successful twin pregnancy after in-vitro fertilization/intracytoplasmic sperm injection. She was admitted to the emergency department with acute abdominal pain. Abdominal ultrasound with colour Doppler mapping of the intra-ovarian blood flow showed adnexal torsion. Laparoscopic management was successfully carried out. (+info)
Dissociated vertical deviation: an exaggerated normal eye movement used to damp cyclovertical latent nystagmus.
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PURPOSE: Dissociated vertical deviation (DVD) has eluded explanation for more than a century. The purpose of this study has been to elucidate the etiology and mechanism of DVD. METHODS: Eye movement recordings of six young adults with DVD were made with dual-coil scleral search coils under various conditions of fixation, illumination, and head tilt. Horizontal, vertical, and torsional eye movements were recorded for both eyes simultaneously. Analyses of the simultaneous vertical and torsional movements occurring during the DVD response were used to separate and identify the component vergence and version eye movements involved. RESULTS: Typically, both horizontal and cyclovertical latent nystagmus developed upon occlusion of either eye. A cycloversion then occurred, with the fixing eye intorting and tending to depress, the covered eye extorting and elevating. Simultaneously, upward versions occurred for the maintenance of fixation, consisting variously of saccades and smooth eye movements, leading to further elevation of the eye behind the cover. The cyclovertical component of the latent nystagmus became partially damped as the DVD developed. CONCLUSIONS: In patients with an early-onset defect of binocular function, the occlusion of one eye, or even concentration on fixing with one eye, produces unbalanced input to the vestibular system. This results in latent nystagmus, sometimes seen only with magnification. The cyclovertical component of the latent nystagmus, when present, is similar to normal vestibular nystagmus induced by dynamic head tilting about an oblique axis. Such vestibular nystagmus characteristically produces a hyperdeviation of the eyes. In the case of cyclovertical latent nystagmus, the analogous hyperdeviation will persist unless corrected by a vertical vergence. A normal, oblique-muscle-mediated, cycloversion/vertical vergence is called into play. This occurs in the proper direction to correct the hyperdeviation, but it occurs in an exaggerated form in the absence of binocular vision, probably as a learned response. The cycloversion/vertical vergence helps damp the cyclovertical nystagmus (a cyclovertical "nystagmus block-age" phenomenon), aiding vision in the fixing eye. But this mechanism also produces unavoidable and undesirable elevation and extortion of the fellow eye, which we call DVD. (+info)
Alterations in the local myocardial motion pattern in patients suffering from pressure overload due to aortic stenosis.
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BACKGROUND: MR tissue tagging allows the noninvasive assessment of the locally and temporally resolved motion pattern of the left ventricle. Alterations in cardiac torsion and diastolic relaxation of the left ventricle were studied in patients with aortic stenosis and were compared with those of healthy control subjects and championship rowers with physiological volume-overload hypertrophy. METHODS AND RESULTS: Twelve aortic stenosis patients, 11 healthy control subjects with normal left ventricular function, and 11 world-championship rowers were investigated for systolic and diastolic heart wall motion on a basal and an apical level of the myocardium. Systolic torsion and untwisting during diastole were examined by use of a novel tagging technique (CSPAMM) that provides access to systolic and diastolic motion data. In the healthy heart, the left ventricle performs a systolic wringing motion, with a counterclockwise rotation at the apex and a clockwise rotation at the base. Apical untwisting precedes diastolic filling. In the athlete's heart, torsion and untwisting remain unchanged compared with those of the control subjects. In aortic stenosis patients, torsion is significantly increased and diastolic apical untwisting is prolonged compared with those of control subjects or athletes. CONCLUSIONS: Torsional behavior as observed in pressure- and volume-overloaded hearts is consistent with current theoretical findings. A delayed diastolic untwisting in the pressure-overloaded hearts of the patients may contribute to a tendency toward diastolic dysfunction. (+info)
Laparoscopic diagnosis and management of ovarian torsion in the newborn.
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BACKGROUND AND OBJECTIVES: The application of laparoscopic techniques in the surgical management of neonatal ovarian cysts is proving valuable both as a diagnostic tool and a potential therapeutic intervention. We report the successful management of a prenatally diagnosed ovarian cyst in a newborn female and provide operative evidence for the presumptive etiology of the cyst. METHODS AND RESULTS: A prenatally diagnosed ovarian cyst was managed using 5 mm laparoscopic instruments in a newborn female. The prenatal ultrasonographic and operative findings are consistent with in utero adnexal torsion with subsequent autoamputation and cystic degeneration of the ovary. The orphaned ovarian cyst was removed from the infant's abdominal cavity by enlarging the camera port incision. DISCUSSION: The application of laparoendoscopic procedures in infants and children continues to evolve with the availability, of microinstrumentation and increasing experience among pediatric surgeons. This approach may prove valuable in the diagnosis and management of prenatally diagnosed ovarian cysts. In addition, further insight into the etiology of congenital ovarian cysts may be obtained. The safety and efficacy of this approach in these infants remains to be fully evaluated. (+info)