Abstract We describe the clinical features, investigations and outcome of 4 adolescents aged 13, 16, 17 and 19 years, with fixed dystonia. The diagnosis was made within 6 months of the onset of ...symptoms. One patient had an identifiable traumatic precipitant. All the affected extremities had pain, sudomotor and vascular changes which were consistent with complex regional pain syndrome. The extremities affected by dystonia were the foot and the hand. The dystonia spread to affect other extremities in one patient. One patient had hemifacial spasm. Examination of the central and peripheral nervous system and allied investigations failed to reveal an organic cause. Common genetic causes for dystonia were excluded. The response to physical treatments for the affected extremities, such as Botulinum Toxin and surgery was poor. In all our cases there were significant psychological and psychiatric factors. Three patients fully met the criteria for psychogenic dystonia and responded well to psychological intervention. Fixed dystonia in adolescents is an uncommon disorder of unknown aetiology, usually presenting in girls, which can be very disabling and difficult to treat. The affected parts of the body are usually painful and show vascular changes. The condition is allied to CRPS. Treatment with multidisciplinary approach including psychological measures and physiotherapy is more likely to be successful and may prevent unnecessary physical measures.
A previously well and intellectually normal 7-year-old girl developed an acute and severe Tourette syndrome 15 months after sustaining a severe head injury. The patient displayed a dramatic response ...to haloperidol. Twelve months after the onset of Tourette syndrome the haloperidol was withdrawn, and there was no relapse of either her motor or phonic tics. Seven years after the head injury the patient remains tic free but demonstrates significant emotional and behavioral sequelae. The patient’s brain magnetic resonance imaging findings were consistent with those reported previously in adults with Tourette syndrome.
Software obfuscation is a protection technique for making code unintelligible to automated program comprehension and analysis tools. It works by performing semantic preserving transformations such ...that the difficulty of automatically extracting the computational logic out of code is increased. Obfuscating transforms in existing literature have been designed with the ambitious goal of being resilient against all possible reverse engineering attacks. Even though some of the constructions are based on intractable computational problems, we do not know, in practice, how to generate hard instances of obfuscated problems such that all forms of program analyses would fail. In this thesis, we address the problem of software protection by developing a weaker notion of obfuscation under which it is not required to guarantee an absolute blackbox security. Using this notion, we develop provably-correct obfuscating transforms using dependencies existing within program structures and indeterminacies in communication characteristics between programs in a distributed computing environment. We show how several well known static analysis tools can be used for reverse engineering obfuscating transforms that derive resilience from computationally hard problems. In particular, we restrict ourselves to one common and potent static analysis tool, the static slicer, and use it as our attack tool. We show the use of derived software engineering metrics to indicate the degree of success or failure of a slicer attack on a piece of obfuscated code. We address the issue of proving correctness of obfuscating transforms by adapting existing proof techniques for functional program refinement and communicating sequential processes. The results of this thesis could be used for future work in two ways: first, future researchers may extend our proposed techniques to design obfuscations using a wider range of dependencies that exist between dynamic program structures. Our restricted attack model using one static analysis tool can also be relaxed and obfuscations capable of withstanding a broader class of static and dynamic analysis attacks could be developed based on the same principles. Secondly, our obfuscatory strength evaluation techniques could guide anti-malware researchers in the development of tools to detect obfuscated strains of polymorphic viruses.
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We describe the presentation and follow-up of a three-year-old girl with nemaline myopathy due to a de-novo variant in ACTA1 (encoding skeletal alpha actin) and moderately low enzyme level of Complex ...I of the mitochondrial respiratory chain. She presented in the neonatal period with hypotonia, followed by weakness in the facial, bulbar, respiratory and neck flexors muscles. A biopsy of her quadriceps muscle at the age of one year showed nemaline rods. Based on her clinical presentation of a congenital myopathy and histopathological features on a muscle biopsy, ACTA1 was sequenced, and this revealed a novel sequence variant, c.760 A>C p. (Asn254His). In addition, mitochondrial respiratory chain enzymatic activity of skeletal muscle biopsy showed a moderately low activity of complex I (nicotinamide adenine dinucleotide (NADH): ubiquinone oxidoreductase). Disturbances of Complex I of the respiratory chain have been reported in patients with nemaline myopathy, although the mechanism remains unclear.