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1/11. Hormonal and cardiovascular reflex assessment in a female patient with pure autonomic failure.

    We report the case of a 72-year-old female with pure autonomic failure, a rare entity, whose diagnosis of autonomic dysfunction was determined with a series of complementary tests. For approximately 2 years, the patient has been experiencing dizziness and a tendency to fall, a significant weight loss, generalized weakness, dysphagia, intestinal constipation, blurred vision, dry mouth, and changes in her voice. She underwent clinical assessment and laboratory tests (biochemical tests, chest X-ray, digestive endoscopy, colonoscopy, chest computed tomography, abdomen and pelvis computed tomography, abdominal ultrasound, and ambulatory blood pressure monitoring). Measurements of catecholamine and plasmatic renin activity were performed at rest and after physical exercise. Finally the patient underwent physiological and pharmacological autonomic tests that better diagnosed dysautonomia.
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2/11. Gamma-hydroxybutyrate withdrawal syndrome.

    STUDY OBJECTIVE: Gamma-hydroxybutyrate (GHB) withdrawal syndrome is increasingly encountered in emergency departments among patients presenting for health care after discontinuing frequent GHB use. This report describes the characteristics, course, and symptoms of this syndrome. methods: A retrospective review of poison center records identified 7 consecutive cases in which patients reporting excessive GHB use were admitted for symptoms consistent with a sedative withdrawal syndrome. One additional case identified by a medical examiner was brought to our attention. These medical records were reviewed extracting demographic information, reason for presentation and use, concurrent drug use, toxicology screenings, and the onset and duration of clinical signs and symptoms. RESULTS: Eight patients had a prolonged withdrawal course after discontinuing chronic use of GHB. All patients in this series were psychotic and severely agitated, requiring physical restraint and sedation. Cardiovascular effects included mild tachycardia and hypertension. Neurologic effects of prolonged delirium with auditory and visual hallucinations became episodic as the syndrome waned. Diaphoresis, nausea, and vomiting occurred less frequently. The onset of withdrawal symptoms in these patients was rapid (1 to 6 hours after the last dose) and symptoms were prolonged (5 to 15 days). One death occurred on hospital day 13 as withdrawal symptoms were resolving. CONCLUSION: In our patients, severe GHB dependence followed frequent ingestion every 1 to 3 hours around-the-clock. The withdrawal syndrome was accompanied initially by symptoms of anxiety, insomnia, and tremor that developed soon after GHB discontinuation. These initial symptoms may progress to severe delirium with autonomic instability.
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3/11. Beta-adrenoceptor modulation in a case of pure autonomic failure.

    In a patient with pure autonomic failure, exercise did not modify beta-adrenoceptor density, probably due to an insufficient increase in plasma catecholamines. isoproterenol infusion increased the number of beta-adrenoceptor by only 17%. Since in control subjects an increased beta-adrenoceptor level was found, following both physical stress and isoproterenol infusion, we suggest that the lack of increased beta-adrenoceptor levels may contribute to the poor circulatory adjustments observed in autonomic dysfunction during activities involving the sympathetic nervous system.
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4/11. Aortic stenosis and autonomic dysfunction: co-conspirators in syncope.

    Autonomic dysfunction and aortic stenosis share several clinical characteristics, including, in severe cases, syncope. Both illnesses tend to manifest later in life, and most cases are idiopathic in origin. In a short period of 4 weeks, the authors noted that three patients out of 36 referrals for autonomic dysfunction also had histories of aortic valve replacement due to stenosis. In each case, similar presenting symptoms of fatigue, light-headedness, and syncope were attributed to aortic stenosis without mention of autonomic failure as a possible contributor. The authors propose that patients for whom symptoms of aortic valve stenosis are not relieved by surgical intervention may have concomitant autonomic dysfunction contributing significantly to their symptoms. Furthermore, the two conditions may comprise a dangerous combination, aortic stenosis causing physical obstruction of ventricular outflow, and autonomic dysfunction causing decreased venous return and insufficient cardiac filling. It may be beneficial for patients with aortic stenosis who present with syncope to be considered for possible autonomic dysfunction to address both potential pathophysiologies contributing to the syncope.
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5/11. Paroxysmal autonomic alterations mimicking epilepsy: a case report.

    A 22-year-old male patient presented with paroxysmal hyperhidrosis, mydriasis, hypertension, and tachycardia. Cranial and cervical MRI revealed focal atrophy in the high order zone of the central autonomic network and syringomyelia. His physical and neurological examinations were unremarkable. Physiological testing included EEG, SPECT, serum/urine tests and autonomic testing. A poor response was achieved with the medical and interventional procedures employed. As the central autonomic network is an integral component of the internal regulation system of the brain, any lesion, no matter where in the network, may lead to paroxysmal autonomic alterations mimicking epilepsy (Published with videosequences).
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6/11. Discordant mental and physical efforts in an autistic patient.

    We investigated whether there was mental effort in response to verbal commands in a 16-year old girl with autism, a high degree of non-compliance with commands and symptoms of autonomic dysfunction by monitoring the brainstem autonomic tone during an attempt to perform isometric exercise. An index of cardiac vagal tone (CVT), cardiac sensitivity to baroreflex (CSB), heart rate (HR) and mean arterial blood pressure (MAP) were measured simultaneously. Physical non-compliance with our commands meant there was no force applied by the patient during the attempted exercise, but CVT and CSB were both reduced and sustained at very low levels throughout the attempt, while MAP and HR were increased concurrently to higher levels in the same period. This vagal withdrawal to allow concurrent increases in HR and MAP is an arousal response appropriate for isometric exercise, which is a sign of a positive mental effort to comply with our commands. These results demonstrate discordant mental and physical efforts in our patient. In this particular case, the physical inabilities in some instances could have been mislabelled as mental non-compliance due to autism. It would be worthwhile to investigate the prevalence of discordant mental and physical efforts in autism.
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7/11. plasma catecholamines during activation of the sympathetic nervous system in a patient with shy-drager syndrome.

    plasma catecholamines and circulation parameters were studied in a patient with a shy-drager syndrome. Basal values of free noradrenaline and dopamine were within the normal range, whereas the adrenaline level was decreased. The response of plasma catecholamines to different kinds of physical activity was pathological. The inability to maintain elevated catecholamine levels during prolonged activity corresponded to imparied circulatory regulation and may provide an additional tool for diagnosis and monitoring of the shy-drager syndrome.
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8/11. Progression of clinical signs in severe infant botulism. Therapeutic implications.

    The clinical evaluation of nine patients with severe infant botulism revealed an identifiable progression of signs due to blockade of the cholinergic synapse similar to that described for competitive blocking agents. This predictable sequence reflects different "margins of safety" for muscles involved in repetitive activities, diaphragmatic function and movement of the extremities. It is important for the clinician to realize that return of peripheral motor activity does not signify a completely recovered cholinergic synapse. Instead of having a four- to five-fold margin of safety, the infant remains close to the point of neuromuscular blockade. Added insults or stress to neuromuscular transmission may precipitate respiratory failure. An understanding of the signs associated with progressive impairment of cholinergic synapses both during onset and during resolution of disease will allow safe care of the infant and will diminish the risk of iatrogenic complications. Evaluation of head control is the most sensitive physical finding indicative of return of adequate neuromuscular function and signifies that oral feedings can be reinstituted.
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9/11. Paroxysmal hypertension in a C4 spinal cord injury--a case report.

    hypertension in a patient with acute spinal cord injury is commonly caused by autonomic dysreflexia, which is a syndrome of paroxysmal hypertension associated with headaches, relative bradycardia and vasomotor instability secondary to sympathetic overactivity. life-threatening complications such as seizures and intracerebral haemorrhage are largely preventable. We report both acute and chronic forms of autonomic dysreflexia due to underlying urinary and faecal impaction in a 33-year-old female with traumatic C4 quadriplegia. She was successfully managed with a combination of physical and pharmacological measures including calcium channel and sympathetic blockers.
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10/11. Physical manoeuvres that reduce postural hypotension in autonomic failure.

    A young female with autonomic failure is described. She successfully reduced the symptoms of orthostatic hypotension by application of physical manoeuvres like leg-crossing, bending forward and placing a foot on a chair. The beneficial effects of these manoeuvres can be explained by a small (10-15 mmHg) increase in mean arterial pressure to a level just sufficient to maintain adequate cerebral blood flow. The underlying common mechanism appears to be an increase of thoracic blood volume by translocation of blood from the vascular beds below the diaphragm to the chest. Instruction in these physical manoeuvres should be part of the management programme to reduce the disabilities arising from postural hypotension in patients with autonomic failure.
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