Cases reported "Disease Susceptibility"

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1/7. Evidence for related myopathies in exertional heat stroke and malignant hyperthermia.

    malignant hyperthermia may be a human stress syndrome, of which heat stroke is one manifestation. Two men in military service who had episodes of exertional heat stroke, and their immediate family members, were tested for susceptibility to malignant hyperthermia by in-vitro contracture tests on skeletal muscle samples. Muscle from both patients had a normal response to caffeine but an abnormal response to halothane. Muscle from the father of one patient had an abnormal response to halothane, and that from the father of the second patient had an abnormal response to ryanodine. The results indicate that clinical heat stroke may be associated with an underlying inherited abnormality of skeletal muscle that is similar, but not identical, to that of malignant hyperthermia.
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keywords = heat stroke, heat, stroke
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2/7. A febrile child with seizure and hemiparesis.

    Febrile seizures are the most common neurological disorders in children and are among the more common symptoms that lead to an emergency department visit. Although most febrile seizures are simple and benign, these seizures can infrequently create a diagnostic dilemma. The diagnosis of cerebral venous thrombosis is challenging to emergency physicians because it can mimic the presentation of many other disorders, including ischemic and hemorrhagic stroke, tumor, and abscess. In addition, the broad variety of signs and symptoms makes the clinical diagnosis difficult. The patients may be presented with signs of increased intracranial pressure or focal neurological deficits. It is an uncommon but potentially dangerous cause of hemiparesis after seizure. Early recognition of this condition and appropriate management may reduce the mortality rate. We present a young child with dural sinus thrombosis who presented with seizures associated with fever and subsequent hemiparesis, and explained a possible mechanism of focal neurological deficit.
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ranking = 0.00043207302170741
keywords = stroke
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3/7. Muscle biopsy for diagnosis of malignant hyperthermia susceptibility in two patients with severe exercise-induced myolysis.

    Muscle biopsy and in vitro contracture tests for diagnosis of susceptibility to malignant hyperthermia (MH) were performed in two patients who had developed fever and severe myolysis during exercise. MH susceptibility was confirmed in one patient, but in the other, exercise-induced heat stroke proved to be the correct diagnosis. Clinical presentation and epidemiology of exercise-induced MH and its relation to the heat stroke syndrome are discussed.
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ranking = 0.28571428571429
keywords = heat stroke, heat, stroke
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4/7. Panoramic dental radiography: an aid in detecting individuals prone to stroke.

    Stroke (cerebrovascular accident, CVA) is the third leading cause of death and an important cause of hospital admission and long-term disability in england and wales. Atherosclerotic lesions at the bifurcation of the common carotid artery are the most common cause of stroke. On occasion, these lesions are partially calcified and visible on a conventional panoramic dental radiograph. The atheroma may appear either as a nodular radiopaque mass or as two radiopaque vertical lines within the soft tissues of the neck at the level of the lower margin of the third cervical vertebra (C3). These opacities are separate and distinct from the hyoid bone and variably appear above or below it. dentists should scrupulously review the panoramic radiographs of all individuals over the age 55 with medical histories (hypertension, diabetes mellitus, hypercholesterolaemia, coronary artery disease) and behaviours (smoking, alcohol abuse, dietary indiscretion, overweight, sedentary life-style) known to be associated with atherosclerosis and stroke.
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ranking = 0.0025924381302445
keywords = stroke
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5/7. Strokes, cutis marmorata telangiectatica congenita, and factor v Leiden.

    Cutis marmorata telangiectatica congenita is an uncommon, congenital cutaneous condition typified by persistent cutis marmorata and other associated abnormalities. Progressive neurologic complications are generally not a feature of the disorder. A case is reported of cutis marmorata telangiectatica congenita associated with diffuse cerebrovascular infarcts at 7 months of age. Moyamoya-like vascular abnormalities were demonstrated in addition to the factor V Leiden mutation, a congenital hypercoagulable disorder. This novel case illustrates the importance of evaluating children with strokes for congenital thrombophilic disorders.
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ranking = 0.00043207302170741
keywords = stroke
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6/7. rhabdomyolysis following severe physical exercise in a patient with predisposition to malignant hyperthermia.

    A 21-year-old man suffered from exertional heat stroke with impaired consciousness and rhabdomyolysis after strenuous physical exercise. Within two weeks the patient recovered completely without any specific therapy. Based on the symptoms and laboratory investigations, this episode suggested a moderate form of malignant hyperthermia. An in vitro contracture test was performed and a predisposition to malignant hyperthermia was diagnosed; other muscular diseases were excluded by histological examination. At present, the in vitro contracture test is the only method used to determine susceptibility to malignant hyperthermia and should be performed when the diagnosis is suggested on clinical grounds.
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ranking = 0.14285714285714
keywords = heat stroke, heat, stroke
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7/7. malignant hyperthermia.

    A specific inherited muscle membrane disorder predisposes to a variety of clinical problems. The most common is malignant hyperthermia (MH), a dangerous hypermetabolic state after anaesthesia with suxamethonium and/or volatile halogenated anaesthetic agents. MH may also be triggered in susceptible individuals by severe exercise in hot conditions, infections, neuroleptic drugs, and overheating in infants. Inbred pigs have provided a helpful model, and experiments on these animals and in MH-susceptible patients have shown that the essential biochemical abnormality is an increase in calcium ions in the muscle cells. This knowledge has led to a specific muscle test to identify susceptibility to MH and to a specific treatment, dantrolene; and as a result the case-fatality rate in MH has fallen from 70% in the 1970s to 5% today. In pigs susceptibility to MH is caused by a single mutation in the ryanodine receptor (RYR) in skeletal muscle. In man the genetics is more complex and three clinical myopathies that predispose to MH have been defined. By far the most common is inherited as a mendelian dominant characteristic and at present mutations in the human RYR account for no more than 20% of susceptible families.
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ranking = 0.0019364160455241
keywords = heat
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