Self-Concept and Satisfaction With Physical Appearance in Youth With and Without Oral Clefts

This study investigated relationships between child/parent dissatisfaction with child facial appearance and the self-concept/social competence of 8- to 15-year-old children with (N = 34) and without (N = 34) oral clefts. Children in both groups had normative psychosocial adjustment, but also reported moderate dissatisfaction with facial appearance. Cleft group parents were more likely to agree with their child's dissatisfaction. When cleft group parents were more dissatisfied with child facial appearance, their children reported better quality of life. Results suggest that parents of children with clefts reporting greater dissatisfaction may respond in positive ways that enhance quality of life.     

Cervical root stimulation in the diagnosis of radiculopathy

Cervical root stimulation (CRS) was compared with conventional EMG, nerve conduction, and late response studies in 34 patients with possible cervical radiculopathy. Cervical roots were stimulated by monopolar needles inserted into paraspinal muscles, recording compound muscle action potentials in biceps, triceps, and abductor digiti minimi muscles. In 18 patients with clinical evidence of radiculopathy, EMG was abnormal in 11 (61%), but CRS was abnormal in all 18. Of 16 patients with symptoms but no signs of radiculopathy, EMG was abnormal in 5 (31%) and CRS was abnormal in 9 (56%).     

Invasive aspergillosis in autopsy material of patients treated at the Institute of Tuberculosis and Chest Diseases during the years 1993-2000

The aim of this paper is an analysis of clinical documentation and results of autopsy of 21 patients (pts) who died of invasive aspergillosis (IA) in the Institute of Tuberculosis and Chest Diseases in years 1993-2000 and the assessment of predisposing factors for IA. In 17 pts IA was the main and in other 4 only an accessory cause of death. All pts were treated with corticosteroids and/or cytostatic drugs--because of lung cancer (11 pts), cancer in other site (2 pts), haematologic disorders (2 pts), Wegener's granulomatosis (1 pt), polymyositis (1 pt), idiopathic pulmonary fibrosis (1 pt) and other diseases (3 pts). In 15 out of 21 pts granulocytopenia was revealed (from 0.008 x 10(9)/L to 0.82 x 10(9)/L) on an average one month before death. In 15 pts IA was limited to the lungs, in 6 others there were also fungal lesions in brain, kidneys, liver, spleen and heart. Pts with disseminated form of IA had significantly lower granulocyte count and were treated with higher doses of corticosteroids than others. Immunosuppressive drugs and granulocytopenia can be regarded as predisposing factors. Fatal course of IA depended also on the late diagnosis.     

Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing

Many unbalanced large copy number variants reviewed in the paper are associated with syndromic orofacial clefts, including a 1.6 Mb deletion on chromosome 3q29. The current report presents a new family with this recurrent deletion identified via whole-exome sequencing and confirmed by array comparative genomic hybridization. The proband exhibited a more severe clinical phenotype than his affected mother, comprising right-sided cleft lip/alveolus and cleft palate, advanced dental caries, heart defect, hypospadias, psychomotor, and speech delay, and an intellectual disability. Data analysis from the 3q29 registry revealed that the 3q29 deletion increases the risk of clefting by nearly 30-fold. No additional rare and pathogenic nucleotide variants were identified that could explain the clefting phenotype and observed intrafamilial phenotypic heterogeneity. These data suggest that the 3q29 deletion may be the primary risk factor for clefting, with additional genomic variants located outside the coding sequences, methylation changes, or environmental exposure serving as modifiers of this risk. Additional studies, including whole-genome sequencing or methylation analyses, should be performed to identify genetic factors underlying the phenotypic variation associated with the recurrent 3q29 deletion.     

Kinematic models and human elbow flexion movements: Quantitative analysis

Summary The smoothness with which movements are customarily performed has led Hogan (1984) to formulate a model for trajectory planning by the central nervous system in which the goal is to maximize smoothness, one measure of which is the integrated mean squared magnitude of jerk (jerk cost). We tested the applicability of this minimum-jerk model to one-joint goal directed movements performed by human subjects at different speeds and amplitudes, by comparing kinematic parameters and the jerk cost predicted by the mathematical model with values calculated from experimental data. We also tested a higher order, minimum-snap kinematic model. Normal subjects performed elbow flexions of 5 to 50 degrees as rapidly and accurately as possible and also at slower speeds. The boundary conditions of both models were adjusted to account for the failure of subjects to produce movements which reached equilibrium precisely at the target (so that acceleration and velocity reached zero together). Typically, fast movements (< 300 ms duration) were fairly symmetric in that the durations and amplitudes of acceleration and deceleration were approximately equal; slower movements (> 300ms) were asymmetric with strong, brief acceleration peaks and broad, slow deceleration peaks. In fast movements, the calculated jerk cost was consistently higher than predicted by the minimum-jerk model; a good fit to all kinematic parameters was provided by the minimum-snap model (a seventh-order polynomial). Neither model consistently predicted the trajectories of slower movements. We conclude that muscle/limb dynamics can account for the success of the minimum-snap model with fast movements, and that there is no evidence of planning for maximal smoothness in slower movements.     

Effects of weak antagonist on fast elbow flexion movements in man

Summary By using a mathematical model and experiments involving electrical simulation of antagonistic muscles, we have formed the hypothesis (Wierzbicka et al. 1986) that in one-joint movements the antagonist muscle not only provides braking torque but also controls movement time. To get additional experimental support for this hypothesis, we studied elbow flexion movements performed by patients with spinal cord injury at the C 5–6 level who had relatively normal strength in their biceps muscle and little or no voluntary control of the triceps. Seven quadriplegic patients and six control subjects performed elbow flexion movements of 10°, 20°, and 30° as fast and accurately as possible. Despite the lack of antagonist, patients used the same pulse height strategy as control subjects to scale their responses with movement amplitude. However, patients' movement time was on average twice that of control subjects, and durations of both accelerative and decelerative phases of movement were increased. Movement speed and acceleration were reduced to 20–50% of the corresponding values of control subjects. Patients tended to overshoot the target to a larger extent than control subjects, particularly 10° targets, with nearly twice the error. We performed the same experiments using an external torque motor to assist the weak triceps. When a constant extensor torque of 2.5 or 5 Nm was provided by the motor, patients were able to move faster, and movement accuracy improved to within the normal range. These results provide direct evidence that the lack of an antagonist has an important effect on completion time and accuracy of fast goal-directed movements.     

Abnormal single motor unit behavior in the upper motor neuron syndrome

We studied the discharge pattern of single motor units (SMUs) in the left and right biceps muscles from a patient with nonspastic weakness of the left arm. Detailed statistical analysis of the behavior of discharge patterns of 4 of 4 single motor units on the affected side showed abnormalities with characteristic features of an upper motor neuron lesion. Five out of 5 single motor units recorded from the right biceps were normal. An upper motor neuron lesion affecting the left arm, predicted by our results, was confirmed by magnetic resonance imaging (MRI), which showed a lesion in the right precentral gyrus. It appears that changes in single motor unit firing characteristics, caused by an upper motor neuron lesion, can be detected at a time when there is no evidence of increased "tone" and/or hyperreflexia (spasticity) in the affected extremity.     

Laparoscopic Heller's myotomy for achalasia after gastric bypass: A case report

INTRODUCTIONDisorders of the oesophagus have been linked to surgical bariatric procedures and obesity. However the relationship between achalasia and gastric bypass is not clearly understood and has only recently been reported following gastric bypass.PRESENTATION OF CASEWe present the case of a 53-year-old woman who re-presented following a gastric bypass with a new diagnosis of achalasia. This was treated successfully with laparoscopic Heller's Myotomy with discharge from hospital 10 days post operatively.DISCUSSIONIt is not clear whether achalasia is a complication of gastric bypass procedures. This is only the second reported case of the condition developing after this operation. The mechanism by which it may develop is yet to be clearly established.CONCLUSIONThis case highlights the need to investigate further a possible link between achalasia and gastric bypass and to manage susceptible patients accordingly in the pre-operative stage.     

Humanized C3 Mouse: A Novel Accelerated Model of C3 Glomerulopathy

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