Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a rare case of clinically mild, influenza-associated encephalopathy with a reversible splenial lesion. A 12-year-old Japanese girl presented with fever and headache, followed by muscle weakness and somnolence. Magnetic resonance imaging on day 4 of her illness showed a solitary lesion of the splenium of the corpus callosum that was most prominently visualized on diffusion-weighted images. The patient was diagnosed with influenza B-associated encephalopathy. Her neurologic signs had completely recovered by day 6, and the splenial abnormalities disappeared on day 11. A review of the literature identified four additional pediatric cases of this type of influenza-associated encephalopathy: three and one were caused by influenza A and B viruses, respectively. Common features include prompt and complete recovery from clinical and radiologic abnormalities, a relatively older age (> or = 5 years), and a higher incidence among the Japanese. To better understand the pathophysiology of this encephalopathy, we examined interleukin-6, tumor necrosis factor-alpha, and soluble tumor necrosis factor receptor 1 levels in serum and cerebrospinal fluid from this patient. The results did not reveal any elevations of these cytokines in the sera or cerebrospinal fluid, suggesting that this condition is not mediated by augmented cytokine responses.
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PMID:Reversible splenial lesion in influenza virus encephalopathy. 1802 26

Toward understanding the role of cytokines in migraine, this study focused on selected proinflammatory cytokines. The study group consisted of 21 children who had migraine with and without aura; the control group was 24 children with episodic tension-type headache. Plasma interleukin-1 alpha was undetectable in 19 control subjects with tension-type headache, but was detectable in 16 patients with migraine, which suggests that interleukin-1 alpha level might be higher in migraine. Soluble tumor necrosis factor receptor 1 in the migraine group was significantly higher than in the control group (P < 0.0005). Migraine patients tended to have increased tumor necrosis factor alpha level, compared with the control group. The interleukin-1 alpha level was significantly higher in migraine with aura than in migraine without aura (P < 0.05). Tumor necrosis factor alpha and soluble tumor necrosis factor receptor 1 levels tended to be increased in the migraine with aura subgroup. The results suggest that proinflammatory cytokines may be involved in the pathogenesis of migraine attacks, although fluctuations in cytokine levels could be different in children than in adults. Such difference could be due to long medical history of migraine in adult patients and frequent intake of analgesic drugs or prophylactic treatment.
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PMID:Proinflammatory plasma cytokines in children with migraine. 1952 Feb 68

Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited rare autoinflammatory disease. It is caused by mutations in exons 2-3 and 4-5 of the tumor necrosing factor receptor superfamily 1A (TNFRSF1A) gene on chromosome 12p13.2. TNFRSF1A gene encodes the 55-kDa receptor for tumor necrosis factor. Attacks are associated with abdominal pain, myalgia, erythematous skin rash, conjunctivitis, and periorbital edema. Until now, more than 80 mutations have been identified. We herein report three patients with TRAPS of Turkish origin. The patients were followed up in our outpatient clinic in Kocaeli University Division of Rheumatology. Because of their TRAPS associated clinical features, we isolated genomic DNA from whole blood and sequenced the exon 2-3 and 4-5 third exon of TNFRSF1A gene after amplification with appropriate primers. One of the patients with TRAPS was 47-year-old female, who described recurrent attacks of fever, urticarial rash, conjunctivitis, arthralgia, myalgia, abdominal pain, thoracic pain, headache, fatigue, and elevated acute phase response since her childhood. With the sequencing of the TNFRSF1A gene, we identified heterozygous C29R mutation, which has not been reported before in any TRAPS patient. The other patients are her sons with similar findings and age 29 and 26. They were heterozygous for C29R mutation in TNFRSF1A gene too. We report novel C29R mutation in three TRAPS patients of Turkish origin, in which the main clinical features are recurrent fever attacks, erythematous skin rash, conjunctivitis, myalgia, and arthralgia. Treatment with steroids resolved the symptoms and lesions.
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PMID:A novel TNFRSF1 gene mutation in a Turkish family: a report of three cases. 2053 35

The paper deals with a case of TRAPS in a Ukrainian family. The manifestations of this syndrome appeared at the age of 2,5 years and gradually the attacks of fever became morefrequent and the recurrence was typical of this diagnosis. Classically, besides fever, there was an intense abdominal pain, such as an "acute abdomen", arthralgia in the right hip and headache. Micropoliadenia was also detected. This patient did not have any other symptoms. A genetic study found a mutation in the TNFRSF1A gene (substitution in exon 4 with 3449T> G: p.C117G). This mutation has not been recorded in the international electronic database INFEVERS. The child was administered pathogenetic therapy with a selective blocker of interleukin (IL-1) receptors (anakinra) at a dose of 1-5 mg / kg of body weight subcutaneously daily. After the first injection of anakinra the patient got rid of fever, joint syndrome and of abdominal pain. After 1 week of therapy, laboratory parameters of the disease activity (ESR, CRP) became normal. The child has taken anakinra for two years, there were no exacerbations of the disease or side effects due to the treatment. The variety of clinical manifestations of congenital periodic fever and the presence of previously unknown genetic mutations that lead to the development of auto-inflammatory syndromes, indicate the need for a detailed study of these diseases.
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PMID:Periodic syndrome associated with the mutation of the receptor gene of the tumor necrosis factor (clinical case). 3224 84