Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
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Between 1984 and 1989, orthotopic cardiac transplantations were done in 90 patients from 10 to 65 years of age for end-stage, refractory congestive cardiomyopathy. Two patients had had ischemic strokes 5 months and 18 years, respectively, before transplantation. Six patients (7%) suffered acute neurologic events perioperatively. Three patients suffered cerebral infarctions. In 1 case this occurred 10 days before transplantation--probably as a result of systemic hypoperfusion--with the placement of ventricular assist devices. Two others suffered infarctions 5 and 21 days, respectively, after transplantation, each of probable embolic origin. Two patients had an acute intracerebral hemorrhage 21 and 36 days, respectively, after transplantation; both were located within the basal ganglia and subcortical regions. Both patients had moderate to severe hypertension, and in 1, renal failure and a coagulopathy developed before hemorrhage. Tremor, seizures, and an altered level of consciousness developed in 1 patient as an apparent toxic reaction to cyclosporine treatment. Only 1 patient died as a result of the neurologic complication--of an acute intracerebral hemorrhage. Three patients recovered fully, 2 partially. Only the case of drug toxicity could be directly attributed to the transplantation procedure itself. We conclude that the risk of an acute neurologic insult with orthotopic cardiac transplantation is low but may result from drug toxicity, cerebral ischemia, or hemorrhagic mechanisms.
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PMID:Neurologic complications of cardiac transplantation. 221 70

Shaken baby syndrome is a serious form of physical child abuse, which is frequently overlooked. It should be suspected in all children younger than one year of age, who present with drowsiness, coma, seizures or apnoea. A combination of subdural haematomas and retinal haemorrhages with minimal or no trauma and no coagulopathy is almost pathognomonic of the syndrome. The findings are caused by shaking with or without impact. Physical signs of violence are often absent and the syndrome may easily be mistaken for serious infection or seizure disorder. Many cases are fatal or lead to severe disability including blindness, cerebral palsy, mental retardation or epilepsy in about 60% of the children. There are many unresolved problems regarding diagnosis, pathophysiology, treatment, prognosis, prophylaxis and legal actions. We discuss these problems and in addition present eleven children with shaken baby syndrome.
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PMID:[Shaken baby syndrome]. 982 79

A 76-year-old man with parkinsonism and dementia was reported. He developed resting tremor at age 69 followed by hypokinesia, rigidity and small step gait. L-dopa ameliorated his symptoms with no hallucinations for the initial 5 years. His mental level did not decrease during that period. He was admitted to our hospital because of dehydration and fever at age 74. Subsequently, his cognitive function deteriorated, with visual hallucination. Serial brain CT studies displayed a progressive cerebral cortical atrophy without focal lesions. He died of respiratory distress syndrome and disseminated coagulopathy resulting from pneumonia, dehydration and syndrome malin. Postmortem examination revealed a marked bilateral loss of melanin-containing neurons with Lewy bodies in the substantia nigra and locus ceruleus. Lewy bodies were also in the basal nucleus of Meynert, with moderate neuronal cell loss. The distribution of Lewy bodies was widespread in the cerebral cortical areas, corresponding to the neocortical subtype according to the consensus guideline for the pathologic diagnosis of dementia with Lewy bodies. According to the criteria of the Consortium to Establish a Registry for Alzheimer's Disease, the age-related plaque score in the present case suggested Alzheimer's disease, although cortical neurofibrillary changes corresponded to stage II by the criteria of Braak and Braak. These pathological findings established the diagnosis of dementia with Lewy bodies from the quantitative and distributional viewpoints. Based on recent neuropathological evidence, a spectral theory, which presents idiopathic Alzheimer's disease and Parkinson's disease as the two extremes of a spectrum of neurodegeneration, has been proposed. Dementia with Lewy bodies is located in the middle of this spectrum. Pathological evaluation based on quantitative consensus guidelines is important to establish the diagnosis in patients with parkinsonism and dementia, since neuropathological changes of Alzheimer's disease, Parkinson's disease and dementia with Lewy bodies are often observed in a mixed manner in these patients.
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PMID:[An autopsy case of dementia with Lewy bodies who showed the typical parkinsonism in the initial five years]. 1120 Nov 92

The aim of the study was to demonstrate the sensitivity, specificity and accuracy of gastric juice urease test and brushing-urease test compared to the biopsy-urease test for Helicobacter pylori (H. pylori) detection. For each patient, two milliliters of gastric juice was collected and one milliliter in the supernatant was tested for rapid urease reactions. One gastric mucus brushing and two biopsies were taken from the body and the antrum. The brushing specimens were tested for rapid urease reaction by shaking the brush into the urea broth. The gold standards for diagnosing of H. pylori are positive H. pylori upon specimen culture or positive identification of H. pylori from polymerase chain reaction (PCR) assay using primer for vac A gene. Forty patients were enrolled in the study including ten patients with gastric ulcer, six patients with duodenal ulcer and twenty four patients with non-ulcer dyspepsia. Brushing-urease test and biopsy-urease test were not different sensitivity (87.50% vs 93.20%), specificity (100% vs 100%) and accuracy (90.25% vs 95.50%). The gastric juice urease test had a sensitivity of 65.25 per cent, specificity of 100 per cent and accuracy of 75 per cent for detecting of H. pylori infection. In conclusion, gastric juice urease test had low sensitivity in the diagnosis of H. pylori infection. Brushing-urease test is as accurate as biopsy-urease test in detecting H. pylori infection. However, the brushing method had lower gastric tissue injury than the biopsy and so should be used for detecting H. pylori infection in patients with coagulopathy.
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PMID:Gastric juice urease test and brushing urease test for Helicobacter pylori detection. 1218 55

Most intracranial haemorrhages in infants after the neonatal period are secondary to non-accidental injury. Occasionally brain haemorrhages in non-mobile infants are due to an inherited coagulopathy. This may often be diagnosed with a coagulation screen on admission. Little is known about the neurological outcome of infants in the latter group. Five infants are described who presented with acute spontaneous brain haemorrhage secondary to an inherited coagulopathy (n = 3) and vitamin K deficiency in alpha(1) antitrypsin deficiency (n = 1) and Alagille's syndrome (n = 1). Despite the critical clinical presentation and the severe imaging findings, these five infants made a good neurological recovery. Infants presenting with spontaneous ICH due to a significant (inherited) coagulopathy are usually easy to differentiate from non-accidental shaking injury; their bleeding pattern within the brain seems different from non-accidental shaking injury and neurodevelopment outcome appears better.
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PMID:Brain haemorrhage in five infants with coagulopathy. 1467 Jul 83

"Effort" axillary-subclavian vein thrombosis (Paget-Schroetter syndrome) is an uncommon deep venous thrombosis due to repetitive activity of the upper limbs. Most cases of this condition are related to strenuous or prolonged sport or occupational activities, while others are associated with endogenous or exogenous risk factors. We report the case of a 43-year-old, previously healthy, male who developed right axillary-subclavian venous thrombosis, which was possibly associated with an exercise involving arm extension and shaking in a posture of shoulder abduction and outstretched for 10 minutes on 2 consecutive days. The condition improved but returned with increased severity when he resumed the exercise after a 2-day break, when he presented with a swollen and bluish arm at the emergency department. Sonographic examination showed moderate thrombotic stenosis of the right axillary vein. Effort thrombosis was diagnosed after ruling out associated coagulopathy or concomitant malignancy. External compression of the accessory ribs or lymph nodes were not detected. He was treated with low molecular weight heparin, followed by oral anticoagulant therapy for 6 months. Only partial resolution of thrombosis was achieved after 6 months of anticoagulant therapy, but pulmonary embolism did not occur during 18 months of follow-up. This case illustrates that, although unusual, Paget-Schroetter syndrome can occur in a healthy patient as a result of mild to moderate exercise.
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PMID:Effort thrombosis of the upper extremities related to an arm stretching exercise. 1647 42

The literature contains very little documentation on neurologic complications in liver transplant recipients for Wilson's disease. We retrospectively reviewed 17 consecutive cases of pediatric liver transplantation for the hepatic form of Wilson's disease to assess the types of neurologic complications that occurred, the incidence of those problems, and associated factors in this patient group. The patients were 12 boys and 5 girls; indications for liver transplantation were fulminant hepatic failure in 3 patients and chronic hepatic failure in 14 patients. Neurologic complications were observed in 10 of the 17 patients as 16 episodes. The most common neurologic complications were seizure (7 episodes in 6 patients) and sudden-onset headache (5 episodes in 4 patients). Tacrolimus was identified as the only possible cause of headache in 3 episodes. Encephalitis was the cause in 1 and intracranial hemorrhage was the cause in the other headache episode. We also noted 1 episode of tremor, 1 episode of acute dystonic reaction, 1 episode of diffuse encephalopathy, and 1 episode of common peroneal nerve palsy. Immunosuppressive agents were the primary cause of 12 of the 16 episodes of neurologic complications. Uremia with hypertension, compression of the right common peroneal nerve, encephalitis, and intracranial hemorrhages attributable to coagulopathy caused 1 neurologic episode each. Neurologic complications in patients with the hepatic form of Wilson's disease were frequent during the first 30 days after pediatric liver transplantation but did not affect survival. Transplantation teams should be aware of the high incidence of neurologic complications in pediatric patients with the hepatic form of Wilson's disease.
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PMID:Neurologic complications of liver transplantation in pediatric patients with the hepatic form of Wilson's disease. 1807 18

A 7-week-old girl showed vomiting after feeding, facial pallor, loss of muscle tone and respiratory depression. An emergency doctor performed successful resuscitation and after arrival in hospital, cranial ultrasound showed left-sided subdural hemorrhage, cerebral edema with a shift of the midline, and a decrease in cerebral perfusion. Ophthalmologic examination showed retinal hemorrhage. In view of this, the doctors suspected shaken baby syndrome and approached the parents with their suspicions, but they denied any shaking or trauma. Despite surgery for the subdural hemorrhage the girl died a few hours later with a severe coagulopathy. Autopsy verified subdural hemorrhage, cerebral edema and retinal hemorrhage, but also revealed intact bridging veins and a lack of optic nerve sheath hemorrhage, therefore shaken baby syndrome could not be proven by autopsy. Histological examination showed severe neonatal giant cell hepatitis as the cause of the severe coagulopathy and the associated spontaneous subdural bleeding. Neonatal giant cell hepatitis may be responsible for unexpected deaths in infancy and, although rarely associated with subdural bleeding, must be considered as a potential differential diagnosis of shaken baby syndrome.
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PMID:Fatal spontaneous subdural bleeding due to neonatal giant cell hepatitis: a rare differential diagnosis of shaken baby syndrome. 2194 36

Snake and spider bites, as well as scorpion sting envenoming, are neglected diseases affecting millions of people all over the world. Neurological complications vary according to the offending animal, and are often directly related to toxic effects of the venom, affecting the central nervous system, the neuromuscular transmission, the cardiovascular system, or the coagulation cascade. Snake bite envenoming may result in stroke or muscle paralysis. Metalloproteinases and other substances (common in vipers and colubrids) have anticoagulant or procoagulant activity, and may induce ischemic or hemorrhagic strokes. The venom of elapids is rich in neurotoxins affecting the neuromuscular transmission at either presynaptic or postsynaptic levels. The clinical picture of scorpion sting envenoming is dominated by muscle weakness associated with arterial hypertension, cardiac arrythmias, myocarditis, or pulmonary edema. These manifestations occur as the result of release of catecholamines into the bloodstream or due to direct cardiac toxicity of the venom. Cerebrovascular complications have been reported after the sting of the Indian red scorpion. Intracranial hemorrhages occur in the setting of acute increases in arterial blood pressure related to sympathetic overstimulation, and cerebral infarctions are related to either cerebral hypoperfusion, consumption coagulopathy, vasculitis, or cardiogenic brain embolism. Three main syndromes result from spider bite envenoming: latrodectism, loxoscelism, and funnel-web spider envenoming. Latrodectism is related to neurotoxins present in the venom of widow spiders. Most cases present with headache, lethargy, irritability, myalgia, tremor, fasciculation, or ataxia. Loxoscelism is caused by envenoming by spiders of the family Sicariidae. It may present with a stroke due to a severe coagulopathy. The venom of funnel-web spiders also has neurotoxins that stimulate neurotransmitter release, resulting in sensory disturbances and muscle paralysis. Proper management of the envenomed patient, including prompt transport to the hospital, correction of the hemostatic disorder, ventilatory support, and administration of antivenom, significantly reduce the risk of neurological complications which, in turn, reduce the mortality and improve the functional outcome of survivors.
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PMID:Neurological effects of venomous bites and stings: snakes, spiders, and scorpions. 2382 24