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)

Systemic lupus erythematosus (SLE) developed in as 23-year-old woman with psoriasis during treatment with psoralen-ultraviolet-A (PUVA). The connective tissue disease was characterized by an erythematous rash, hair loss, nephritis, splenomegaly, seizures, and coma. Serum antinuclear antibodies were present in high titer, and hypocomplementemia developed. Antibodies to native or ultraviolet-irradiated DNA were not demonstrated. While the association of psoriasis and lupus may have been fortuitous, the temporal relationships suggest that PUVA treatment in this case may have been of pathogenetic importance in the development of the connective tissue disease.
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PMID:Systemic lupus erythematosus: association with psoralen--ultraviolet-A treatment of psoriasis. 76 Jun 58

We report 10 patients with primary hypoparathyroidism. Age at onset varied from 7 months to 52 years (mean 28); 7 were female. Diagnosis was established at a mean of 4.1 years after the appearance of clinical manifestations. Unexplained hypocalcemia (mean 5.3 mg/dl) and hyperphosphatemia (mean 6.4 mg/dl) were present in all patients. Prevalent symptoms included tetany (9 patients), seizures (5) and hypocalcemic cataracts (4). Clinical manifestations may be grouped into 5 types 1) tetany; 2) seizures; 3) other neurologic disorders (basal ganglia calcification, pseudotumor of the brain, ataxia, nystagmus, hypertonus, paresis); 4) disorders of the lens including fully developed cataracts and 5) skin alterations like psoriasis and others. Some of these run on acute course (seizures, tetany), others a subacute one (skin alterations) while others are rather chronic (cataract and other neurologic disorders). Seizures and electroencephalographic disorders predominate in younger patients while tetany is more prevalent in older subjects.
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PMID:[Idiopathic hypoparathyroidism, a syndrome with various clinical expressions: analysis of 10 cases]. 251 14

Two groups of epilepsy patients (28 patients with temporal lobe epilepsy and 15 patients with primary generalized epilepsy) entered a study of personality traits related to epilepsy, based on a modification of Bellak's semistructured interview for assessment of ego strength. Two groups of subjects served as controls: 15 patients with a non-neurological but relapsing disorder, psoriasis, and 15 healthy volunteers. Compared with the group of healthy volunteers, a decreased adaptive level of ego functioning was found in the epilepsy groups, regardless of seizure types and EEG findings, and, to a lesser extent, compared with the psoriasis group. Areas of ego functioning most affected were "reality testing", "cognitive functioning", "integrative functioning" and "regulation and control of drives". Patients with more than one type of seizure were the most affected, as were patients who were younger than 15 years when the disease began. The number of anticonvulsants administered did not influence the results. No difference on adaptive level of ego functioning was found between the group with primary generalized epilepsy and the group with temporal lobe epilepsy. Similarly, the temporal lobe epilepsy group with predominantly right-sided and left-sided EEG changes, respectively, showed similar adaptive levels of ego functioning.
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PMID:Ego functions in epilepsy. 314 89

Four males, the sons of 2 sisters, apparently have a new syndrome of mental retardation, seizures and psoriasis. Due to the relationship between the affected males we propose the inheritance to be X-linked recessive although cosegregation of two separate disorders may be occurring. Psoriasis has never been reported as a monogenic disorder. Results of cytogenetic studies, including fra (X) and high-resolution prometaphase analysis, were negative. Steroid sulfatase activities of cultured fibroblasts from 2 surviving affected males were normal. The results of HLA typing of all available relatives did not indicate a strong association between the skin disorder and certain HLA antigens. A healthy sister, who may be heterozygous carrier of the mutant X chromosome, decided on termination of 3 successive pregnancies after prenatal male sex determinations. Her fourth pregnancy with a female fetus is ongoing.
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PMID:X-linked mental retardation associated with psoriasis: a new syndrome? 317 53

Since their initial description in 1957, the interferons (IFNs) have been increasingly used to treat a wide array of diseases. Acute adverse effects, i.e. 'flu-like' syndromes, hypo- or hypertension, tachycardia, headache, myalgias and gastrointestinal disorders, occur within the first hour or day after starting treatment. They are seldom treatment-limiting and are easily manageable. Sub-acute and chronic effects develop after several days, usually within 2 and 4 weeks of therapy. The most typical is neurological toxicity, including fatigue/asthenia, and behavioural and cognitive changes. Such symptoms may seriously impair quality of life and result in treatment discontinuation. Seizures have seldom been described. Other infrequent central nervous system adverse effects include vertigo, cramp and oculomotor nerve paralysis. Distal paraesthesias and peripheral neuropathy have been reported. IFN-associated autoimmunity is quite rare but a matter of concern. Biological or clinical manifestations usually require several months to become apparent. Autoantibodies have been shown to develop in most patients but have been inconsistently associated with clinical symptoms of systemic lupus erythematosus, rheumatoid-like arthritis and thyroiditis. Both hypo- and hyperthyroidism have been described but are usually reversible. Other infrequent autoimmune reactions include diabetes, pemphigus and worsening of multiple sclerosis. Although several patients present with a pre-existing autoimmune disorder, no predisposing factor has been clearly established. While hypotension and tachycardia are the most frequent acute cardiovascular complications, a few additional cases of cardiac arrhythmias and myocardial ischaemia have been reported after a short course or several weeks of treatment. These latter complications do not appear to be dose-dependent or age-related. Isolated cases of congestive heart failure have also been described. Mild proteinuria has been observed in 15 to 25% of patients, but acute renal toxicity is uncommon. A transient rise in serum aminotransferase levels is frequently noted during the first stage of therapy, especially in patients receiving the highest dosages. Direct hepatotoxicity is extremely rare. Autoimmune hepatitis, which is ill-diagnosed as chronic viral hepatitis, and de novo induction of autoimmune hepatitis, account for the majority of liver diseases. Haematotoxicity is relatively common but mild to moderate, and develops gradually during the first weeks of treatment. Neutropenia is the most common haematological toxicity, but is usually not dose-limiting and resolves rapidly upon drug discontinuation. Myelosuppression, autoimmune and immune allergic haemolytic anaemias and thrombocytopenias have seldom been described. Cutaneous adverse effects comprised nonspecific erythema and hair loss and, less frequently, vasculitis, local ulcerations at the site of injection and exacerbation of psoriasis.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Clinical toxicity of the interferons. 751 63

This overview summarizes the major and minor side effects and drug interactions of fluoxetine. The adverse reactions include the "serotonin syndrome", cardiovascular complications, extrapyramidal side effects such as akathisia, dyskinesias, and parkinsonian-like syndromes and an apparently increased risk of suicidality. Fluoxetine-induced mania and hypomania, seizures and sexual disorders are evaluated along with minor symptoms of allergic reactions, stuttering, hematological changes, psoriasis, and inappropriate secretion of the antidiuretic hormone. The major fluoxetine-drug interactions involve the amino acids L-dopa and L-tryptophan, anorexiants, anticonvulsants, antidepressants, anxiolytics, calcium channel blockers, cyproheptadine, lithium salts, and drugs of abuse. The underlying mechanism and the paradoxical effects of fluoxetine are addressed.
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PMID:Fluoxetine: adverse effects and drug-drug interactions. 825 2

Vitamin D is absolutely essential for the maintenance of a healthy skeleton. Without vitamin D, children develop rickets and adults exacerbate their osteoporosis and develop osteomalacia. Casual exposure to sunlight is the major source of vitamin D for most people. During exposure to sunlight, ultraviolet B photons photolyze cutaneous stores of 7-dehydrocholesterol to previtamin D3. Previtamin D3 undergoes a thermal isomerization to form vitamin D3. Increased skin pigmentation, changes in latitude, time of day, sunscreen use, and aging can have a marked influence on the cutaneous production of vitamin D3. Once vitamin D3 is formed in the skin or ingested in the diet, it must be hydroxylated in the liver and kidney to 1,25-dihydroxyvitamin D3 [1,25(OH)2D3]. It is now recognized that a wide variety of tissues and cells, both related to calcium metabolism and unrelated to calcium metabolism, are target sites for 1,25(OH)2D3. 1,25(OH)2D3 stimulates intestinal calcium absorption and mobilizes stem cells to mobilize calcium stores from bone. Noncalcemic tissues that possess receptors for 1,25(OH)2D3 respond to the hormone in a variety of ways. Of great interest is that 1,25(OH)2D3 is a potent antiproliferative and prodifferentiation mediator. As a result, 1,25(OH)2D3 and its analogs have wide clinical application in such diverse clinical disorders as rheumatoid and psoriatic arthritis; diabetes mellitus type I; hypertension; cardiac arrhythmias; seizure disorders; cancers of the breast, prostate, and colon; some leukemias and myeloproliferative disorders; chemotherapy-induced hair loss; and skin rejuvenation as well as skin diseases like psoriasis and ichthyosis.
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PMID:Noncalcemic actions of 1,25-dihydroxyvitamin D3 and clinical applications. 857 91

A male infant was born with generalized erythroderma and scaling; the newborn demonstrated poor neonatal development and developed several complications such as hypernatremic dehydration, septicemia, gastroenteritis and seizures. In the neonatal period, the erythema faded, but exfoliation persisted. The parents are healthy but related. One older brother, who died at the age of 3 months, had shown the same clinical picture in the neonatal period and was diagnosed with congenital psoriasis. All clinical investigations, including serum immunoglobulins, complement levels and lymphocyte counts, were normal. Only raised total IgE and multiple positive specific IgE reactions were noted. Skin biopsy revealed an image of ichthyosis. Polarization microscopy of scalp hair showed trichorrhexis nodosa and discrete focal twisting of the hair shaft. This clinical picture and all histological findings are compatible with the indications of Netherton's syndrome. The purpose of this report is to call attention to this severe presentation of congenital ichthyosis in the neonatal period and to the difficulty of a correct diagnosis when confronted with congenital erythroderma.
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PMID:Netherton's syndrome: a severe neonatal disease. A case report. 886 92

Two brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis-like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are described. These features correspond to the ichthyosis follicularis, alopecia, photophobia (IFAP) syndrome. The youngest brother had in addition a bilateral absence of 4th fingers and camptodactyly, features never reported in patients with IFAP syndromes.
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PMID:Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review. 1470 10

Two issues regarding the robustness of the original transmission disequilibrium test (TDT) developed by Spielman et al are: (i) missing parental genotype data and (ii) the presence of undetected genotype errors. While extensions of the TDT that are robust to items (i) and (ii) have been developed, there is to date no single TDT statistic that is robust to both for general pedigrees. We present here a likelihood method, the TDT(ae), which is robust to these issues in general pedigrees. The TDT(ae) assumes a more general disease model than the traditional TDT, which assumes a multiplicative inheritance model for genotypic relative risk. Our model is based on Weinberg's work. To assess robustness, we perform simulations. Also, we apply our method to two data sets from actual diseases: psoriasis and sitosterolemia. Maximization under alternative and null hypotheses is performed using Powell's method. Results of our simulations indicate that our method maintains correct type I error rates at the 1, 5, and 10% levels of significance. Furthermore, a Kolmorogov-Smirnoff Goodness of Fit test suggests that the data are drawn from a central chi2 with 2 df, the correct asymptotic null distribution. The psoriasis results suggest two loci as being significantly linked to the disease, even in the presence of genotyping errors and missing data, and the sitosterolemia results show a P-value of 1.5 x 10(-9) for the marker locus nearest to the sitosterolemia disease genes. We have developed software to perform TDT(ae) calculations, which may be accessed from our ftp site.
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PMID:A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents. 1516 28


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