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)

Siblings, one female and one male, were each born approximately 1 month prematurely and showed microcephalus, shortness, and short limbs plus a receding forehead and one peculiarly positioned small toe. Each failed to thrive, and neither made any developmental progress beyond the newborn status. Each exhibited a similar leukemoid reaction, and one died of respiratory infection at 3 months, the other of seizures and central nervous system infection at 5 months. At autopsy, each had a small brain, hydrocephalus, and bony anomaly of the cranium, the one of the posterior fossa and the other of the foramen magnum; in addition, one had absence of the corpus callosum. The long bones were considered atypical of chondrodystrophy. The combination of midly shortened bones of the extremities, moderately anomalous ribs, and slightly flattened vertebrae with microcrania does not resemble any of the previously recognized forms of short limbed dwarfism. We propose determination by a single, rare, autosomal recessive gene. The parents had greatly different ancestry and their apparent heterozygosity for such a gene made their mating particularly unusual.
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PMID:A new form of hereditary short limbed dwarfism with microcephalus. 113 58

One hundred and forty four cases of febrile seizures, 95 simple (typical) and 49 complex (atypical); were studied and compared for clinical and epidemiological data and family history of febrile and afebrile seizures. Major results were: maximum age of onset below three years (75%) in both simple and complex groups, male preponderance, respiratory infection as the commonest etiology (69.4%) and maximum seizure onset within 24 hours of fever (73%). The familial prevalence of all seizures was 29.1%, 23.2% in the simple and 40.8% in the complex group (p < 0.01). The familial prevalence of febrile seizures was 20%; similar in both groups. The familial prevalence of afebrile seizures was 13.9%; 6.3% in simple and 28.6% in complex group (p < 0.01). The commonest relative was a sibling (13.2%). The prevalence in parents was 4%. Families with two additional members with history of seizures revealed complex seizure patterns in two-thirds of index cases. There was no correlation between family history of seizures and age at onset or sex. No clear inheritance pattern emerged and polygenic inheritance is likely. One third of eighteen families had siblings with identical segregation of parental HLA-A and B haplotypes. Five families showed the presence of HLA All. This small though adequate sample size did not reveal an HLA marker for febrile seizures.
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PMID:An epidemiological study of febrile seizures with special reference to family history and HLA linkage. 129 92

A 33-year-old female patient, with a 4-year history of hypertension plus a 3-year history of systemic lupus erythematosus, who had been taking high dosages of corticosteroids, has shown repetitive respiratory infections and congestive heart failure for the past 8 months. Angiocardiography confirmed the diagnosis of aortic insufficiency with aneurysmatic dilation of Valsalva's posterior sinus, ascending aorta of normal diameter and normal coronary arteries. Aortic dissection causing aortic insufficiency due to collapse of aortic leaflets was spotted during the surgery and was corrected by a bovine pericardial tube and suspension of aortic valve. The postoperative (PO) period was complicated by left-sided seizures followed by left hemiparesis and respiratory infection. She was discharged on the 25th PO day with mild left hemiparesis and in functional class I (NYHA), using medicines. We emphasize the need to consider the diagnosis of aortic dissection in patients with systemic lupus erythematosus and aortic insufficiency, specially in those who have a history of systemic arterial hypertension and long-term corticosteroid therapy.
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PMID:[Aortic dissection associated with systemic lupus erythematosus]. 134 Nov 57

A case control study was conducted to investigate the association of family history of febrile seizures (FS) and history of maternal, pregnancy and delivery, and postnatal factors with FS. Information was gathered by door-to-door survey in six major cities in the People's Republic of China. Factors present before the date of onset of FS were assessed in 182 subjects and in an equal number of controls matched for age, sex, and geographic area. The odds ratio for risk of FS in children with a family history of FS in a first-degree relative was 10.0 (confidence interval 2.7-58.6), confirming other observations that familial factors are an important predisposing characteristic for FS. Maternal acute respiratory infection during the first trimester of pregnancy was slightly more frequent in children with FS (odds ratio, 1.9 confidence interval 1.0-3.9). None of the other examined pregnancy or delivery factors was associated with an increased risk, suggesting that birth history is not an important factor predisposing to FS.
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PMID:Risk factors for febrile seizures in the People's Republic of China: a case control study. 186 8

A 3 2/12-year-old boy had recurrent seizures, chronic respiratory infection, and delayed physical and mental development. He also had low plasma copper content typical of Menkes syndrome. Autopsy showed marked neuronal loss and gliosis in most areas of the cerebral and cerebellar cortices, midbrain, pons, and medulla. The spinal cord showed severe demyelination in both ascending (spinocerebellar) and descending (lateral corticospinal) tracts from the cervical to the sacral level. In addition to these neuronal lesions, both the meningeal and parenchymal arterial and venous branches were remarkably dilated in the brain and spinal cord. Our previous study of this case showed abnormal perivascular innervation and abnormal axonal swelling of the postganglionic adrenergic fibers elsewhere in the body. The metabolic disorder caused by copper deficiency induces severe neuronal degeneration that is apparently exaggerated by extensive and progressive vascular abnormality.
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PMID:Neuronal and vascular disorders of the brain and spinal cord in Menkes kinky hair disease. 313 Aug 71

This study documents five patients with neurological disease associated with evidence of recent Mycoplasma pneumoniae infection. Four patients had encephalitis associated with coma. Two of these had hemiparesis (one with dysphasia), one had seizures, and one had cerebellar and brainstem involvement. Two also had evidence of a radiculopathy and peripheral neuropathy. One patient had aseptic meningitis with later transverse myelitis. Three patients had multiple sites of neurological involvement. Respiratory infections preceded the neurological syndromes in four cases. Antibiotic therapy did not appear to alter the course of the disease. All patients had a favourable outcome.
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PMID:Neurological complications of Mycoplasma pneumoniae infection. 643 46

An instrument consisting of 10 questionnaires was developed to assess the ability of facilities to implement acute respiratory infection (ARI) case management guidelines. Data sources included interviews with physicians, nurses and area pharmacists; observation of patient care; review of patient records and an inventory of supplies. All 21 outpatient and two inpatient health facilities as well as 20 of 28 pharmacies in the district were included in the study. Of 93 child assessments observed, physicians asked the age for only 38 (41%). No child was questioned on ability to drink or experience of seizures. In addition, no physician checked for stridor, wheeze or chest indrawing, or counted the respiratory rate. 81 of 93 (87%) children with ARI were prescribed antibiotics. Among the 88 children assessed as not requiring antibiotics, 77 (88%) received them. Five children (2 pneumonia, 2 severe pneumonia, and 1 very severe disease) were determined to require antibiotics; four were prescribed an oral regimen. Of the four children that both required antibiotics and received them, three should have been admitted to the hospital for parenteral antibiotics, but were not. A variety of prescribed antibiotics were used among the 77 children. 27 (35%) children received two or three antibiotics without specifying the dose, frequency or duration on the prescription. Only two physicians mentioned the antibiotic dosage schedule for home care to the mother. Physicians at each of the outpatient facilities estimated the mean availability of antibiotics at 7.9 +or- 3.9 months. Three facilities (14%) had ampicillin suspension, none had amoxicillin and two (9%) had cotrimoxazole for the treatment of outpatient pneumonia. 19 (90%) had aspirin. Oxygen was available for inpatient care for children with pneumonia in one of the two hospitals, no nebulizers were available for treatment of wheezing, and disposable syringes were available in only one hospital. Parenteral bronchodilators were available in both, oral in neither. This instrument was useful for comprehensively evaluating facility capability to provide quality case management in the Egyptian ARI program.
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PMID:An instrument to assess acute respiratory infection case management in Egypt. 845 90

Hemolytic uremic syndrome (HUS) is a rare condition which most frequently follows gastrointestinal or respiratory infection episodes in young children, but it can also occur in other settings such as the postpartum period and during use of drugs such as oral contraconceptives, immunosuppressors, and antineoplastics. In early pregnancy, however, its frequency is thought to be very low. The authors report a case of a 30-year-old woman who developed HUS early in her first pregnancy. She had persistent aqueous diarrhea from the beginning of the pregnancy. At the 21st week she developed hypertension which in 2 weeks was followed by seizures, oliguria, and acute pulmonary edema despite intensive medical efforts to control her blood pressure. Surgical intervention for fetal delivery was performed. The patient was initially kept on continuous hemodialysis (CVVHD) followed by an alternate-day conventional hemodialysis schedule. A peripheral blood analysis showed a microangiopathic hemolytic anemia with thrombocytopenia; blood coagulation tests were completely normal. A brain CT scan and an abdominal MRI showed no major abnormalities. HUS was confirmed by a percutaneal kidney biopsy, performed at the 21st day of anuria. Techniques for identification of verotoxin-producing E. coli were not available. Renal function did not recover and the patient has been undergoing regular maintenance hemodialysis for a year.
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PMID:Early gestational hemolytic uremic syndrome: case report and review of literature. 915 64

A 13-year-old mentally retarded boy suffered from repeated vomiting attacks since infancy. Each episode lasted 2 to 10 days, and was precipitated by respiratory infection, exercise or stress. During an attack he became irritated, agitated and amnesic, but did not have headaches or seizures. Associated findings were transient elevation of serum creatine kinase (CK) (331-3381 IU/l), and of plasma ACTH and cortisol. The raised CK level was the result of muscle hypertonicity. Ictal EEGs showed delta activity in the front-temporal areas, and inter-ictal IMP-SPECT revealed hypoperfusion in both temporal regions. Unlike the periodic ACTH-ADH discharge syndrome, neither hypertension nor depression developed. These attacks were diagnosed as a migraine equivalent and were suppressed with phenytoin. From the EEG and SPECT findings, we concluded that the vomiting and behavioural changes were related to the paroxysmal vascular abnormality in the temporal regions, but it was not easy to make the distinction between migraine and focal epilepsy. Before a diagnosis of the periodic ACTH-ADH discharge syndrome is made, the possibility of migraine equivalent should be considered.
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PMID:Cyclic vomiting and elevation of creatine kinase associated with bitemporal hypoperfusion and EEG abnormalities: a migraine equivalent? 962 97

Parenteral injection of endotoxin has been used as a model to examine the role of pro-inflammatory cytokines in the centrally controlled responses to Gram-negative bacterial infection. However, the events that occur following mucosal exposure to live bacteria have received little attention. In this study, we have used a murine model to demonstrate that respiratory infection with Bordetella pertussis, which is associated with a number of systemic complications including fever, seizure and encephalopathy in children, resulted in persistent expression of mRNA transcripts for IL-1beta and TNFalpha and transient expression of IL-6 in the hippocampus and hypothalamus. These changes correlated with elevated levels of cytokine protein in the same brain areas. The results demonstrate that infection at a mucosal surface can result in the induction of pro-inflammatory cytokine production in the brain and suggest that these locally synthesized mediators may contribute to the centrally controlled clinical manifestations of B. pertussis infection.
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PMID:Induction of inflammatory cytokines in the brain following respiratory infection with Bordetella pertussis. 1063 86


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