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)

The occurrence of signs and symptoms in the Rett syndrome (RS) was analyzed in a series of females born 1945-87 (median age 17 1/2 years) and fulfilling the diagnostic criteria for classic RS. For general information, data from 91 girls and women were used (group A), while the more detailed analyses were based on three age related subgroups: the youngest 20, born 1980-87 (group B); the 34 girls born 1970-79 (group C); and the oldest 37, born 1945-69 (group D). Data from group A indicated a developmental stagnation (stage I) at median age 11 (5-24) months and loss of ability to use acquired skills (stage II) at 19 (12-36) months. Group B displayed subtle prodromes in the first months of life, and later in infancy gross motor delay with insufficient equilibrium control. Development invariably came to a definite break at a crucial stage of maturation and was followed by a remarkable "awakening" and return of interest to act and interact (stage III). Loss of skills belonged to the triad contact/communication, hand use/skill, and babble/words. By age 2 1/2 years, apraxia and involuntary and stereotyped movements, were found in all. Seizures, hyperventilation and spells of screams and laughter were more frequent in group C (94%, 65% and 71%, respectively), and breathholding, bloating and drooling in group D (73%, 43% and 81%, respectively). Plantar flexion and abiotrophy of feet, as well as peroneal weakness and scoliosis, increased with age and was found in 89%, 86%, and 89%, respectively. The sequence of events described, emerged as subtle insufficiency and more or less abruptly turned into loss. Conversely to known progressive encephalopathies, the deterioration was followed by excess of activity, only years later to turn into restriction.
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PMID:Age-related occurrence of signs and symptoms in the Rett syndrome. 137 44

The epidemics we have observed, were due to the presence and growth in the frogs of Bacillus hydrophilus fuscus. This was proved by recovering the bacillus in pure culture from the body fluids of frogs sick or dead of the disease, and the inoculation of healthy frogs with an emulsion of the pure culture, and by obtaining the same clinical picture and pathological findings as in the original diseased frogs; and, finally, by recovering the bacillus in pure culture from frogs inoculated and sick or dying as a result of the inoculation. The disease is widely distributed throughout North America and Europe, and in this country and Canada is known as "red-leg." It has been observed by us chiefly in the warm weather of September and October. The disease is characterized by congestion of the ventral surfaces of the body, with more or less ulceration in, and haemorrhage beneath, the skin, bloating due to serous exudation into the lymph sacs, gradual failure to respond to stimuli, which symptoms are followed by coma and death, the last being occasionally preceded by tetanic seizures. After death haemorrhages into the muscles and degenerative changes in the muscles, spleen, liver, and, to a slight degree, in the intestinal tract, are found. The blood shows an advanced degree of anaemia and leucocytosis. Predisposing causes of the disease are lesions of the skin, which seem to be the usual portal of entry of the infection, and lowered resistance from heat and from anaemia. By a series of controlled experiments with inoculated frogs we have shown that, while temperatures a little above freezing have no harmful effect upon the frogs, they completely control all manifestations of the disease in inoculated or diseased frogs, if the frogs are left in the cold for a period as long as seven days; and, further, that even short periods in the cold chamber will bring about a delay of the fatal results in diseased or inoculated frogs. The anaemia so often found in apparently healthy frogs seems in many cases to be due to the presence in the lungs of the frog of a parasite, the Distomum cylindraceum, which, occurring in sufficiently large numbers in an individual frog, is capable of materially diminishing the available supply of red corpuscles. Severe laking of the blood, the presence of numerous isolated red-cell nuclei, and great diminution in the number, or almost total absence of the red cells in the diseased frogs, are in proportion to the severity of the infection and due to bacterial action. The presence of the haematozoan parasite, the Drepanidium, does not play any part as a predisposing or exciting cause of the disease. The ascarid Rhabdomena nigrovenosum, although frequently present as a parasite in the lungs of the frogs, plays no part in causing or promoting the disease.
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PMID:"RED-LEG"-AN INFECTIOUS DISEASE OF FROGS. 1986 86

The ketogenic diet (KD) is one of the most effective therapies for drug-resistant epilepsy. The efficacy of the medium-chain triglyceride KD (MCTKD) is as excellent as the classic KD (CKD), which has been documented in several subsequent retrospective, prospective, and randomized studies. MCT oil is more ketogenic than long-chain triglycerides. Therefore, the MCTKD allows more carbohydrate and protein food, which makes the diet more palatable than the CKD. The MCTKD is not based on diet ratios as is the CKD, but uses a percentage of calories from MCT oil to create ketones. There has also been literature which documents the associated gastrointestinal side effects from the MCTKD, such as diarrhea, vomiting, bloating, and cramps. Therefore, the MCTKD has been an underutilized diet therapy for intractable epilepsy among children.The author has used up to >70% MCTKD diet to maximize seizure control with gastrointestinal side effects optimally controlled. As long as health care professionals carefully manage MCTKD, many more patients with epilepsy who are not appropriate for CKD or modified Atkins diet or low glycemic index treatment will benefit from this treatment. A comparison between the MCTKD and other KDs is also discussed.
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PMID:Medium-chain triglyceride ketogenic diet, an effective treatment for drug-resistant epilepsy and a comparison with other ketogenic diets. 2351 48

Abdominal bloating (AB), a common complaint that affects quality of life and disturbs psychological well-being, is largely a behavioral-driven disorder. We aimed to develop and validate a new health belief of bloating (HB-Bloat) scale in the Malay language. The initial item pool was developed based on the theory of planned behavior, empirical literatures, expert review and in-depth interviews. Using the population with bloating (diagnosed based on the Rome IV criteria and pictogram), exploratory and confirmatory factor analytical approaches (EFA and CFA, respectively) were utilized to explore and confirm the domains in the new scale. There were 150 and 323 respondents in the EFA and CFA, respectively. There were 45 items in the initial scale, but it was reduced to 32 items after content validity and pre-testing. In EFA, 17 items with three (3) structure factors (attitude 4 items, subjective norm 7 items, and perceived behavior control 6 items) were identified. Total variance explained by the EFA model was 40.92%. The Cronbach alpha of the three (3) factors ranged from 0.61 to 0.79. With CFA, the three factors model was further tested. Five problematic items were identified and removed. The final measurement model fit the data well (root mean square error of approximation (RMSEA (90% CI) = 0.054 (0.038, 0.070), Comparative Fit Index (CFI) = 0.941, Tucker-Lewis Fit Index (TLI) = 0.924, and standardized root mean squared residual (SRMR) = 0.044). The construct reliability of the final measurement model ranged from 0.76 to 0.84. As a conclusion, the new HB-Bloat scale is a valid and reliable tool for assessment of health beliefs in bloating.
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PMID:Validity and Reliability of the Newly Developed Malay-Language Health Belief of Bloating (HB-Bloat) Scale. 3231 95