Gene/Protein Disease Symptom Drug Enzyme Compound
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 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Reports of adults with Williams syndrome (WS) have been rare. We have evaluated 13 adult WS patients and reviewed 16 case reports of WS in patients older than age 16 years. Adults in our study had progressive multisystem medical problems. Cardiovascular complications were common (12/13) including hypertension (8), supravalvular aortic stenosis (9), aortic hypoplasia (3), pulmonic artery stenosis (4), peripheral stenoses (3), and mitral valve prolapse (2). Joint limitation (12/13) was progressive, often accompanied by kyphoscoliosis and lordosis. Recurrent urinary tract infections in 6 individuals led to radiologic studies showing urethral stenosis in 2, and bladder diverticula and vesicoureteral reflux in 3. Gastrointestinal problems included obesity (5), chronic constipation (7), diverticulosis (3), and cholelithiasis (4). Hypercalcemia was documented in 5 patients, although others had hypercalcemic symptoms (abdominal pain, polyuria, and constipation). One 45-year-old man had parathyroid hyperplasia. Previous reports likewise document significant morbidity. Thus, Williams syndrome in an adult appears to dictate aggressive evaluation and monitoring. Investigation of calcium metabolism should be undertaken in each adult WS patient.
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PMID:Adults with Williams syndrome. 189 83

The recent development of new drug therapies for headache disorders has allowed for the tailoring of treatment to specific patient needs. This paper reviews the pharmacologic management of patients with both headache and concomitant medical illness. The discussion specifically includes the treatment of hypertension, coronary artery disease, mitral valve prolapse, asthma, peptic ulcer disease, obesity, and chronic Epstein-Barr virus infection, occurring concomitantly in patients with headache. Medications that can exacerbate either the headache or concurrent medical condition are noted, and alternative therapies are advised.
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PMID:Management of the headache patient with medical illness. 252 Mar 92

The conventional "stepped-care" approach to the treatment of hypertension deserves revision. Rational therapy considers a variety of factors to obtain maximum efficacy, safety, tolerability, compliance, and neutralization of neural tone for the prevention of sudden death. The patient's age, gender, race, behavior profile, hemodynamic and neurohumoral status (plasma renin activity, norepinephrine/epinephrine ratio), and quality of life will help determine the choice of antihypertensive agent. Concomitant risk factors (smoking, obesity, diabetes, hypercholesterolemia), the presence of sequelae (left ventricular hypertrophy and/or failure, renal failure), and the existence of other disorders (mitral valve prolapse, depression, anxiety) must also be considered when initiating treatment. In addition, the cost of ancillary expenses (laboratory tests, hospitalizations, and emergency room visits) must be weighed against the potential benefits of therapy. Beta blockers are effective, well tolerated, and versatile for the treatment of concomitant cardiovascular disorders and as behavior modifiers. Calcium channel blockers and angiotensin converting enzyme inhibitors also show promise and merit consideration as therapy for specific groups of hypertensive patients.
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PMID:The 1980s: a patient-specific therapeutic approach in hypertension. 288 36

The heart may play an active, passive, or incidental role in the pathogenesis of hypertension. Echocardiography probably contributes little to understanding of active mechanisms, although it may provide important information relative to structural and functional adaptive changes associated with development of left ventricular hypertrophy. Moreover, because other clinical conditions frequently coexist with hypertensive heart disease, echocardiography may provide another dimension in the assessment of obesity, coronary heart disease, mitral valve prolapse, idiopathic hypertrophic subaortic stenosis, and asymmetric septal hypertrophy in the overall problem. Critical in this understanding are the subtle changes that occur in the individual patient, reflecting the natural history of the disease or response to its treatment. Since technical problems preclude echocardiographic evaluation in all patients with hypertension, particular care must be exercised in making epidemiologic generalizations.
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PMID:Future directions in the use of echocardiography. 380 1

Sixty-one patients (pts) with sleep apnea (SA), 35 with narcolepsy (N) and 24 with idiopathic hypersomnolence (H) were studied in the Clinical Research Center. The height to body weight ratio was less than normal in SA pts (0.32 +/- 0.01 vs 0.45 +/- 0.01, p less than 0.01), but normal in N and H pts (0.45 +/- 0.02 and 0.45 +/- 0.01, respectively). Twenty-four hour urinary epinephrine (E) plus norepinephrine (NE) was greater than normal (p less than 0.01), but not different among SA, N and H pts. The incidence of mitral valve prolapse (MVP) was greater in N (49%) and H (58%) compared to SA (20%) (p less than 0.01). The ratio of the pre-ejection period to the left ventricular ejection time (PEP/LVET) was abnormal (greater than 0.42) in 36% of the pts with SA and only in one pt with N and H (p = 0.02). The % shortening of the echocardiographic internal diameter (% delta D) was abnormal (less than 28%) in 28% of pts with SA and normal in all pts with N and H (p = 0.02). The incidence of malignant ventricular dysrhythmias (24 hour Holter) was 26% in SA, 3% in N and 4% in H (p = 0.04). Thus, pts with impaired alertness have high adrenergic tone despite evidence for a role of catecholamines in wakefulness. Left ventricular dysfunction, malignant dysrhythmias and obesity are common findings in SA, while MVP is very common in N and H.
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PMID:Anthropometric characteristics, cardiac abnormalities and adrenergic activity in patients with primary disorders of sleep. 658 Mar 72

An epidemiological and clinical study was carried out on 31 patients with spasm of normal coronary arteries. The series comprised 24 males and 7 females aged 30 to 68 years (mean age: 48 years) with isolated resting chest pain (61 p. 100) or with resting and effort chest pains (39 p. 100). Their cardiovascular risk factors were compared to 735 unselected patients with coronary insufficiency undergoing coronary coronary angiography. Abnormalities of lipid metabolism (45 p. 100) and obesity (14 p. 100) were less common but there was a higher incidence of smoking (74 p. 100 compared to 48 p. 100). Sixteen patients had a psychological test: repressed aggressivity and severe anxiety were found in all patients, a state of separation coincided wtih the onset of the illness in 10 of the 16 patients. On admission, 13 patients presented with attacks of Prinzmetal variant angina, with myocardial infarction in 2 cases. Eighteen patients had non-invalidating angina with sporadic attacks. Coronary angiography was normal in 8 patients and showed lesions with less than 50 p. 100 narrowing in the other 23 patients. Mitral valve prolapse was found on left ventriculography in four patients. Exercise electrocardiography was positive in 7 out of 20 patients, and notably in those who had not had effort angina. All patients were treated with calcium antagonist drugs (25 Nifedipine, 6 Diltiazem), the efficacity of which was tested in 20 patients with a control ergometrine test. Thirty patients were followed up for 6 to 46 months (mean: 15 months). The exercise stress tests were repeated in the 7 patients with positive results before treatment and the results were negative in all cases. Twenty three patients were completely pain free or significantly improved, although 25 p. 100 of control tests remained positive (4/16). Six patients continued to have as much chest pain, and three had positive control tests. One patient with a negative control test developed acute myocardial infarction six months later in the territory of the spasm: during hospitalisation the ergometrine test became positive again.
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PMID:[Coronary insufficiency caused by spasm with arteries injured slightly or not at all (31 cases)]. 681 Jul 88

The case of a 23 years old woman, affected by the Cohen syndrome, who underwent general anesthesia for extensive dental surgery, is reported. The Cohen syndrome is an autosomal recessive syndrome that causes mental retardation, obesity, short stature as well as oral, ocular, and limb anomalies. The problems the anesthesiologist could deal with include the capacity of the patient to cooperate; difficult intubation because of maxillary hypoplasia, micrognathia, narrow and high-arched palate, and prominent maxillary central incisors; generalized muscular hypotonia; moderate leukopenia, that could theoretically increase the risk of infection: and, finally, possible associated mitral valve prolapse or hiatus hernia. In the case reported the presence of mitral valve prolapse or hiatus hernia was ruled out echographically. The patient was premedicated with diazepam and atropine i.m.; general anesthesia was carried out by propofol-fentanyl association and myorelaxation was obtained with atracurium. Nasotracheal intubation was performed easily in spite of oral anomalies so that the usefulness of thyromental distance, which was 7 cm long, as a clinical test to evaluate a potentially difficult intubation was confirmed. Noteworthy, the thyromental distance was the only test which was suitable for the uncooperative patient. At the end of surgery muscular tone recovered promptly and the endotracheal tube could be regularly removed. No complication was registered postoperatively.
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PMID:[General anesthesia in Cohen syndrome. Report of a clinical case]. 767 74

Low left ventricular ejection fraction (LVEF), a measure of global systolic left ventricular dysfunction, is associated with an increased risk of recurrent coronary events or death in persons with cardiac disease. There are few data on the distribution of resting LVEF and component volumes in healthy young adults or on any association of LVEF with coronary risk factors. LVEF and left ventricular end-diastolic and end-systolic volumes (LVEDV and LVESV, respectively) were measured by two-dimensional echocardiography in 1782 men and women 23 to 35 years old without self-reported heart disease (other than mitral valve prolapse, n = 53) who were participants in the multicenter Coronary Artery Risk Development in Young Adults study. Factors analyzed as potential contributors to LVEF, LVEDV, and LVESV included age, gender, race, blood pressure, alcohol use, current smoking, family history of myocardial infarction, total and high-density lipoprotein cholesterol concentrations, obesity, reported physical activity, and fitness as assessed by treadmill exercise testing. LVEF was lower in men (mean 62.6% SD 5.7%) than in women (mean 63.9%, SD 5.7%) (p < 0.01) but did not differ significantly between black and white subjects. Ninety percent of subjects had an LVEF between 53% and 71%. LVEDV and LVESV were > 25% greater in men than in women. From multivariate analysis, male gender, history of hypertension, and current smoking were each positively and independently associated with an approximately 1% lower LVEF. Body surface area, a family history of premature myocardial infarction, and treadmill workload 150 time were positively related, whereas total skinfold thickness was negatively related to LVEDV and LVESV.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Echocardiographic left ventricular systolic function and volumes in young adults: distribution and factors influencing variability. 787 89

Water is an essential nutrient required for life. To be well hydrated, the average sedentary adult man must consume at least 2,900 mL (12 c) fluid per day, and the average sedentary adult woman at least 2,200 mL (9 c) fluid per day, in the form of noncaffeinated, nonalcoholic beverages, soups, and foods. Solid foods contribute approximately 1,000 mL (4 c) water, with an additional 250 mL (1 c) coming from the water of oxidation. The Nationwide Food Consumption Surveys indicate that a portion of the population may be chronically mildly dehydrated. Several factors may increase the likelihood of chronic, mild dehydration, including a poor thirst mechanism, dissatisfaction with the taste of water, common consumption of the natural diuretics caffeine and alcohol, participation in exercise, and environmental conditions. Dehydration of as little as 2% loss of body weight results in impaired physiological and performance responses. New research indicates that fluid consumption in general and water consumption in particular can have an effect on the risk of urinary stone disease; cancers of the breast, colon, and urinary tract; childhood and adolescent obesity; mitral valve prolapse; salivary gland function; and overall health in the elderly. Dietitians should be encouraged to promote and monitor fluid and water intake among all of their clients and patients through education and to help them design a fluid intake plan. The influence of chronic mild dehydration on health and disease merits further research.
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PMID:Water: an essential but overlooked nutrient. 997 88

One hundred ninety consecutive Dachshunds >2 years of age, including 18 families consisting of both parents and 4 or more offspring, were examined clinically and echocardiographically to study the epidemiology and inheritance of mitral valve prolapse (MVP) and other signs of myxomatous mitral valve disease in the dog. From video-recorded echocardiograms, MVP severity, jet size (color Doppler), and leaflet thickness were assessed. With regard to murmur intensity and each of these 3 echocardiographic measurements. the inheritance and the influence of age, gender, coat type, body weight, degree of obesity, heart rate, and thorax dimensions were evaluated. MVP severity correlated positively with age (P < .0001) and heart rate (P = .002), negatively with thorax circumference (P = .0005), and was related to coat type (P = .006). MVP severity progressed faster in males than in females (P = .0002). The other measures of disease severity (jet size, leaflet thickness, and murmur intensity) also correlated positively with age (all P < .0001). When compared in pairs, all 4 measures of disease severity correlated significantly with one other. Pedigree analyses did not disclose agreement with simple Mendelian models, but high disease prevalence made interpretation difficult. Mean parental MVP severity correlated significantly with MVP severity in the offspring (P = .03). The epidemiology of MVP in Dachshunds resembles that of MVP in humans, MVP severity correlates significantly with other measures of the degree of myxomatous mitral valve disease, and MVP is an inherited condition in Dachshunds. A polygenic mode of inheritance is suggested.
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PMID:Epidemiology and inheritance of mitral valve prolapse in Dachshunds. 1049 29


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