Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The frequency, causes, clinical and laboratory features, and outcome of febrile episodes in 160 hospitalized patients with systemic lupus erythematosus were reviewed. Eighty-three febrile episodes were identified in 63 patients and were ascribed to active lupus erythematosus alone (60 per cent), infections (23 per cent) and miscellaneous causes (17 per cent). Bacteremia was present in nine of the 19 infectious episodes and resulted in a fatal outcome in a third of the patients. Leukocytosis, neutrophilia, shaking chills and normal levels of anti-DNA antibodies were associated with infection in febrile patients with lupus erythematosus.
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PMID:Fever in systemic lupus erythematosus. 31 84

Phenobarbital (phenobarbitone) and phenytoin are the most useful anticonvulsants in neonates because adverse effects are most readily reversed when these drugs are used. Most anticonvulsants are very rarely associated with haematological adverse effects. Platelet function is particularly vulnerable to valproic acid (sodium valproate) therapy. Barbiturates and phenytoin can precipitate metabolic bone disease. Although very infrequent, lymphadenopathy is most common with phenytoin, and lupus-like illnesses with ethosuximide. Valproic acid may precipitate underlying metabolic disorders. Nephrolithiasis can occur with topiramate. Liver disease is most likely with felbamate or valproic acid, but can occur with other anticonvulsants. Valproic acid and ethosuximide are the main precipitants of gastrointestinal symptomatology; while valproic acid and vigabatrin are frequently associated with excessive bodyweight gain. Rash is most likely to occur with barbiturates, but there is a high risk of this adverse effect if large doses of lamotrigine are given with valproic acid. Adverse cosmetic effects are most likely with phenytoin, but valproic acid may cause alopecia. All anticonvulsants may cause unwanted neurological effects: when they occur, diplopia is usually precipitated by carbamazepine; tremor by valproic acid; and other motor disturbances are probably most common with phenytoin. Most anticonvulsants can cause drowsiness. Phenobarbital leads anticonvulsants as a cause of behavioural difficulties. Effects of anticonvulsants on cognitive function are difficult to assess, but subtle changes have been reported for all anticonvulsants in use up to the 1980s. Compared with other anticonvulsant drugs, phenytoin and felbamate are more often discontinued as a result of unwanted effects.
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PMID:A comparative review of the adverse effects of anticonvulsants in children with epilepsy. 896 93

A 37-year-old man presented with sweating, confusion, palpitations, hunger and tremor of 3 months duration. The symptoms disappeared after ingestion of food. After 3 months, he suffered from irregular fever, arthritis, rash, photosensitivity, and was admitted to the hospital. His antinuclear antibody, anti-double stranded DNA antibody, anti-smith antibody and lupus erythematosus cell phenomenon were all positive. Urine analysis showed albuminuria; his 24-h urine protein was 4.7 g. During hospitalisation, the patient presented with loss of consciousness three times because of hypoglycaemia. His serum insulin level during the hypoglycaemic episode was high at 490-1080 mmol/L (normal range: 6.00-27.00 mmol/L). He had never received an insulin rejection. Both insulin autoantibody and insulin receptor antibody were positive. Investigations confirmed systemic lupus erythematosus (SLE) with autoimmune hypoglycaemia. High-dose of corticosteroids, chloroquine and cyclophosphamide therapy had resulted in remission of hypoglycaemia associated with resolution of circulating antibodies to insulin and insulin receptor, and improvement in clinical and laboratory features of SLE.
Lupus 2009 Apr
PMID:Systemic lupus erythematosus presenting as hypoglycaemia with insulin receptor antibodies and insulin autoantibodies. 1931 1

A 34-year-old woman has had systemic lupus erythematosus since 11 years, with multiple treatments and incomplete result. When examined in our department, she presented with a recent parkinsonian syndrome including bradykinesia, adiadochokinesia, cogwheel rigidity and postural tremor of hands. Deep tendon reflexes were increased. Brain MRI showed abnormal signal intensity in the periventricular white matter, internal capsule, brain stem, middle cerebellar peduncles and cerebellar hemispheres. She was treated with prednisone and mycophenolate for the lupus, and amantadine and benzhexol for the parkinsonian syndrome which resolved within ten months, while the lupus improved. There are 30 cases of Parkinson's disease as a complication of lupus reported in the literature. The pathogenesis may be cerebral vasculitis with ischemia, and antibodies against neurons, mainly dopaminergic. Twenty cases improved, eight of them with the treatment of the lupus alone.
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PMID:Parkinsonian syndrome as a complication of systemic lupus erythematosus. Report of a case and review of the literature. 2291 66

Dementia comprises several neurodegenerative disorders with similar neuropsychiatric features and Alzheimer's disease (AD) is the most common of them. Genetic factors are strongly implicated into its etiology especially for early-onset cases (EOAD) occuring before the age of 65. About 10% of these are inherited in autosomal dominant fashion via pathogenic polymorphisms in three genes- APP, PSEN-1, and PSEN-2. Despite genotypic clarity, however, phenotypic variability exists with different symptom constellations observed in patients with identical mutations. Below, we present a case of a 39-year-old male with a family history for early onset dementia who was referred to our department with anamnesis for abrupt behavioral change 7 months prior to hospitalization-noticeable slowing of speech and reactivity, impaired occupational functioning and irritability, followed by aphasic symptoms and transient episodes of disorientation. He was followed up for 2 years and manifested rapidly progressing cognitive decline with further deterioration of speech, apraxia, acalculia, ataxia, and subsequently bradykinesia and tremor. Based on the clinical and neuroimaging findings (severe cortical atrophy), familial EOAD was suspected and a whole exome sequence (WES) analysis was performed. It identified a heterozygous missense variant Leu424Val (g.71074C > G) in PSEN-1 gene considered to be pathogenic, and only reported once until now in a Spanish patient in 2009. Despite genotype identity however, distinct phenotypic presentations were observed in the two affected subjects, with different neuroimaging findings, and the presence and absence of seizures in the Spanish and Bulgarian case, respectively. Besides, myoclonus and spastic paraparesis considered "typical" EOAD clinical features were absent. Age of symptom onset was consistent with two of the reported mutations affecting 424 codon of PSEN-1 gene and significantly earlier than the other two implying that factors influencing activity of PSEN-1 pathological forms are yet to be clarified. Furthermore, our patient had co-occurring lupus erythematosus (LE) and we suggest that this condition might be etiologically linked to the PSEN-1 mutation. In addition to illustrating the symptomatic heterogeneity of PSEN-1 caused EOAD, our study confirms that in patients presenting with early cognitive deterioration and family history for dementia, WES can be especially informative and should be considered as a first-line examination.
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PMID:A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD. 3192 Jul 35