265 research outputs found
Multicenter-study of operative treatment of intraligamentous tears of the anterior cruciate ligament in children and adolescents: Comparison of four different techniques
Tears of the anterior cruciate ligament in skeletally immature patients were operated with four different methods and their outcome compared to each other. Sixty-eight patients (33 males, 35 females), mean 12.5years, were treated in four different centers from 1984 to 2001. Twenty-eight patients underwent the ACL-reconstruction with hamstring grafts, 16 patients with bone-patella-bone autografts, 12 patients with quadriceps grafts and 12 patients with facia lata. The mean follow-up was 32months. Postoperative evaluation included radiographs, KT-1000/2000 stability measurements, Lysholm score, The Tegner activity scale and IKDC score. Neither leg length discrepancy nor angular deformities were noted. Mean KT-1000 difference was 2.1mm, mean postoperative Lysholm knee score 93.3, IKDC 87% normal or nearly normal. The Tegner index decreased from 6.6 to 5.7. In total, six patients developed instability due to an adequate trauma 1year after the index operation. Two patients showed mild arthrotic changes. All but two patients were able to return to the same level of preoperative sports participation. None of the four methods studied showed major differences in outcome compared to the other. No growth disturbance could be note
Analyse der VerÀnderungen von Wavelet-transformierten elektromyographischen Signalen, wie sie beim Tragen einer Kniebandage entstehen
Der Vergleich von diversen Elektromyogrammen stellt eine wesentliche Anforderung an die Datenanalyse dar. Das Ziel der vorliegenden Arbeit ist es, eine Methode mit geringem mathematischem Aufwand vorzustellen, mit der kleine VerĂ€nderungen am Bewegungsapparat durch Auswertung des EMG-Signals einfach und mit einer hohen SensitivitĂ€t ermittelt und dargestellt werden können. Die Wavelettransformierten Elektromyogramme bilden IntensitĂ€tsbilder, die in einem Bildraum als Punkte dargestellt werden können. Die Distanz-analyse der Bildpunkte im Bildraum erlaubt es festzustellen, ob zwei Gruppen von Elektromyogrammen - im vorliegenden Falle diejenigen, die beim Gehen mit und ohne Kniebandage gemessen wurden - sich im Mittel signifikant unterscheiden. Die Methode definiert eine Distanz-Winkel-Darstellung und Differenz-IntensitĂ€tsbilder, die es erlauben, die Auftrennung optisch zu beurteilen. Es ist zu erwarten, daÎČ bei gröÎČeren Interventionen die Unterschiede deutlicher erscheinen werden. The comparison of electromyograms represents a challenge for data analysis. The aim of the project was to present a method that uses a minimal computational effort to resolve small but significant changes in the muscular activity that occur while walking with and without a knee brace. The wavelet transformed electromyograms were represented as intensity patterns that resolve the power of the signal in time and frequency. The intensity pattern of each electromyogram defines single points in a pattern space. The distance between these points in pattern space were used to detect and show the separation between the groups of electromyograms that were recorded while walking with and without a knee brace. The method proposes a distance versus angle representation to visually discriminate the intensity patterns. Once it has been shown that the differences are statistically significant, one can visualize the result in a difference intensity pattern that indicates at what time and at what frequency the electromyograms vary between the two conditions tested. It is to be expected that interventions that are more intrusive than a knee brace will reveal even more distinct difference
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
Hydrogen sulfide, a signaling molecule formed mainly from cysteine, is catabolized by sulfide:quinone oxidoreductase (gene SQOR). Toxic hydrogen sulfide exposure inhibits complex IV. We describe children of two families with pathogenic variants in SQOR. Exome sequencing identified variants; SQOR enzyme activity was measured spectrophotometrically, protein levels evaluated by western blotting, and mitochondrial function was assayed. In family A, following a brief illness, a 4- year- old girl presented comatose with lactic acidosis and multiorgan failure. After stabilization, she remained comatose, hypotonic, had neurostorming episodes, elevated lactate, and Leigh- like lesions on brain imaging. She died shortly after. Her 8- year- old sister presented with a rapidly fatal episode of coma with lactic acidosis, and lesions in the basal ganglia and left cortex. Muscle and liver tissue had isolated decreased complex IV activity, but normal complex IV protein levels and complex formation. Both patients were homozygous for c.637G- >- A, which we identified as a founder mutation in the Lehrerleut Hutterite with a carrier frequency of 1 in 13. The resulting p.Glu213Lys change disrupts hydrogen bonding with neighboring residues, resulting in severely reduced SQOR protein and enzyme activity, whereas sulfide generating enzyme levels were unchanged. In family B, a boy had episodes of encephalopathy and basal ganglia lesions. He was homozygous for c.446delT and had severely reduced fibroblast SQOR enzyme activity and protein levels. SQOR dysfunction can result in hydrogen sulfide accumulation, which, consistent with its known toxicity, inhibits complex IV resulting in energy failure. In conclusion, SQOR deficiency represents a new, potentially treatable, cause of Leigh disease.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/162807/2/jimd12232.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/162807/1/jimd12232_am.pd
The prognosis of clinical course and the analysis of the frequency of the inflammation and dysplasia in the intestinal J-pouch at the patients after restorative proctocolectomy due to FAP
Thinking about Eating Food Activates Visual Cortex with Reduced Bilateral Cerebellar Activation in Females with Anorexia Nervosa: An fMRI Study
Background: Women with anorexia nervosa (AN) have aberrant cognitions about food and altered activity in prefrontal cortical and somatosensory regions to food images. However, differential effects on the brain when thinking about eating food between healthy women and those with AN is unknown. Methods: Functional magnetic resonance imaging (fMRI) examined neural activation when 42 women thought about eating the food shown in images: 18 with AN (11 RAN, 7 BPAN) and 24 age-matched controls (HC). Results: Group contrasts between HC and AN revealed reduced activation in AN in the bilateral cerebellar vermis, and increased activation in the right visual cortex. Preliminary comparisons between AN subtypes and healthy controls suggest differences in cortical and limbic regions. Conclusions: These preliminary data suggest that thinking about eating food shown in images increases visual and prefrontal cortical neural responses in females with AN, which may underlie cognitive biases towards food stimuli and ruminations about controlling food intake. Future studies are needed to explicitly test how thinking about eating activates restraint cognitions, specifically in those with restricting vs. binge-purging AN subtypes
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a transamidation reaction involving the GatCAB aminoacyl-tRNA amidotransferase complex. Defects involving the mitochondrial protein synthesis machinery cause a broad spectrum of disorders, with often fatal outcome. Here, we describe nine patients from five families with genetic defects in a GatCAB complex subunit, including QRSL1, GATB, and GATC, each showing a lethal metabolic cardiomyopathy syndrome. Functional studies reveal combined respiratory chain enzyme deficiencies and mitochondrial dysfunction. Aminoacylation of mt-tRNAGln and mitochondrial protein translation are deficient in patients' fibroblasts cultured in the absence of glutamine but restore in high glutamine. Lentiviral rescue experiments and modeling in S. cerevisiae homologs confirm pathogenicity. Our study completes a decade of investigations on mitochondrial aminoacylation disorders, starting with DARS2 and ending with the GatCAB complex
The interaction between the vastus medialis and vastus intermedius and its influence on the extensor apparatus of the knee joint
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