Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients with severe biotinidase deficiency (BD), if untreated, may exhibit seizures, psychomotor delay, deafness, ataxia, visual pathology, conjunctivitis, alopecia, and dermatitis. Clinical features normally appear within the first months of life, between two and five. Seizures are one of the most common symptoms in these patients (55%), usually presented as generalized tonic-clonic, and improving within 24 h of biotin treatment. Treatment delay has been associated with irreversible neurological damage, mental retardation, ataxia, paraparesis, deafness, and epilepsy exceptionally.We report the case of a girl who was admitted at 2.5 months because of vomiting, failure to thrive, flexor spasms, dermatitis, and neurological depression for 1 month. BD was identified and was treated with biotin, stopping seizures and improving symptoms. Developmental delay, paraparesis, optic atrophy, and seizures during febrile illness were observed at follow-up. At the age of 8, she suffered hemigeneralized seizures despite appropriate biotin treatment, so levetiracetam was administered, and epilepsy was controlled. Organic acid measurement was performed to determine whether the child was receiving enough or no biotin.Even though BD is a rare condition, because the biotinidase screening is a reliable procedure and the disorder is readily treatable, the implementation of extended biotinidase screening will effectively help to prevent any acute and long-term neurological problems as well as the significant morbidity associated with untreated disease. In addition, neonatal screening and early treatment with biotin prevents severe neurological sequelae, such as epilepsy, which has not been thoroughly described in the literature.
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PMID:Epilepsy in biotinidase deficiency after biotin treatment. 2343 Aug 99

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by the production of autoantibodies directed against nuclear self-antigens and circulating immune complexes. This results in damages to various organs or systems, including skin, joints, kidneys and the central nervous system. Clinical manifestations of SLE could be diverse, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures and arthritis. The complicated pathogenesis and varied clinical symptoms of SLE pose great challenges in the diagnosis and monitoring of this disease. Unfortunately, the etiological factors and pathogenesis of SLE are still not completely understood. It is noteworthy that recent advances in our understanding of the biological omics and emerging technologies have been providing new tools in the analyses of SLE, such as genomics, epigenomics, transcriptomics, proteomics, metabolomics and so on. In this article, we summarize our current knowledge in this field for a better understanding of the pathogenesis, diagnosis and treatment for SLE.
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PMID:The applied basic research of systemic lupus erythematosus based on the biological omics. 2344 42

In October 2011, a fatal disease outbreak occurred in 3 civet species farmed for their use in the coffee industry in Thailand. The disease quickly killed 20 animals in a mixed population of Asian palm civets (Paradoxurus hermaphroditus; n = 18), a masked palm civet (Paguma larvata; n = 1), and small Indian civet (Viverricula indica; n = 1). Clinical signs consisted of severe lethargy, weakness, vomiting, and diarrhea with associated dehydration, dyspnea, nasal and footpad hyperkeratosis, and seizures. All civets were positive for canine morbillivirus using the commercial canine distemper virus (CDV) antigen test kit. Consistently observed necropsy findings consisted of severe pneumonia and hemorrhagic enteritis. Microscopic examination revealed severe gastroenteritis, bronchointerstitial pneumonia, lymphadenitis, necrotizing dermatitis, nonsuppurative polioencephalitis, and characteristic intranuclear/intracytoplasmic eosinophilic viral inclusions in multiple tissues. Immunohistochemical analysis revealed immunoreactivity of varying intensity, while virus isolation demonstrated typical cytopathic effects. To confirm CDV infection, reverse transcription-polymerase chain reaction against fusion (F), phosphoprotein (P), and hemagglutinin (H) genes showed bands of expected size using conjunctival swabs (9 civets, 1 dog [Canis lupus familiaris] living on the farm). Phylogenetic analyses and restriction fragment length polymorphism results indicated that the civets were infected by the Asia-1 strain of CDV commonly found in dogs in Thailand. The deduced amino acid sequences of the signaling lymphocyte activation molecule binding region of the CDV-H proteins revealed a Y549H mutation in both CDV-infected Asian palm civets (n = 4) and a co-located dog. We report a canine distemper outbreak in a civet colony with lineage classification and a Y549H mutation in noncanid species in Thailand.
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PMID:Pathologic and Molecular Virologic Characterization of a Canine Distemper Outbreak in Farmed Civets. 2525 65

Drug Rash with Eosinophilia and Systemic Symptoms" (DRESS) syndrome is a severe adverse drug reaction. The drugs most often implicated are anti-convulsants, bupropion, sulfonamides, sulfasalazine, allopurinol, minocycline, abacavir and neviparine. There are also immune and infectious causes that can lead to DRESS syndrome. A 70-year-old female patient had undergone endovascular coil embolization for intracranial aneurysm and experienced a generalised seizure postoperatively. She had been given diphenylhidantoin (DPH). Six days after DPH therapy, the patient had complained of widespread skin rash. Although DPH was replaced with levetiracetam afterwards, the skin rash deteriorated, causing facial oedema and swelling of the tongue. She had severe facial oedema with swelling of the tongue, causing disturbance of breathing. On the second day in the critical care unit, the patient's breathing deteriorated, leading successively to intubation and mechanical ventilation. The patient's rash was still persistent and the results of a punch biopsy taken from the lesions revealed superficial perivascular dermatitis involving spongiotic eosinophils compatible with spongiotic drug eruption. As a result, it is important to realise that medications we use can be the cause of a range of reactions ranging from simple rash to life threatening syndromes.
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PMID:Diphenylhydantoin Induced DRESS Syndrome: A Case Report. 2736 88

Hypocalcemia is a serious condition which has a major impact on the transmission of nerve impulses, contraction and relaxation of muscles (including myocardial) and pathological secretion of some hormones. The basic causal treatment is the parenteral administration of calcium, namely calcium gluconate, calcium chloride or calcium gluceptate. Parenteral formulations of these compounds must meet pharmacopoeial requirements, including the aluminum content limit. Each of these molecules has its specific properties that predict their clinical use. In addition to hypocalcemia, they are used to influence a variety of other conditions, such as fluoride or oxalic acid poisoning, decreased myocardial contractility caused by overdose of calcium intake blockers or beta blockers. They are also used as part of parenteral nutrition AIO or as an ancillary treatment for acute allergic conditions, itchy dermatitis, weeping and generalized eczema, continuous renal replacement therapy, seizure convulsion, laryngospasm, bronchospasm and altered mental status. The role of calcium replacement in septic patients remains unclear and requires further study. Although it may appear that calcium chloride infusion solutions provide greater and more highly ionized amounts of calcium, gluconate salts are preferred due to considerably less irritation of the vessel wall and better compatibility with other nutrients in parenteral nutrition.Key words: hypocalcemia calcium gluconate calcium chloride aluminum parenteral nutrition.
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PMID:[Specifics of some calcium salts in intravenous therapy of hypocalcemia and their further use]. 2935 77

Combined methylmalonic aciduria and homocystinuria (cobalamin C deficiency, cblC) is a well-described disorder of vitamin B12 metabolism caused by mutations in the MMACHC gene with multisystemic manifestations. While there is no cure, combined treatment with intramuscular hydroxycobalamin and oral betaine may reduce the severity of symptoms and improve clinical outcome. We report a female patient diagnosed with late-onset cobalamin C deficiency at the age of 8 months who presented with developmental regression and severe dermatitis. She developed a movement disorder after initiation of hydroxycobalamin treatment. Similar movement disorders have been described in patients with nutritional vitamin B12 deficiencies following cobalamin supplementation but have not previously been reported in patients with cobalamin C disorder. The movement disorder in our patient gradually resolved with clonazepam treatment, despite no seizure activity detected on EEG. She was eventually weaned off the clonazepam and the abnormal movements have not recurred. The patient remains developmentally delayed but is showing no other symptoms related to cobalamin C deficiency. The patient has a younger affected sibling who was treated from birth and who is physically and developmentally entirely normal; she did not have abnormal movements after treatment with hydroxycobalamin was initiated. There is no clear consensus on the cause of movement disorders that develop following initiation of intramuscular vitamin B12 treatment.
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PMID:Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder. 3290 57


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