Gene/Protein Disease Symptom Drug Enzyme Compound
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170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Crohn's disease (CD) and ulcerative colitis (UC), the chronic inflammatory bowel diseases (CIBD), are common causes of gastro-intestinal disease in the Western world, with a combined prevalence of 100-200/100,000 (ref. 1). Epidemiological studies, particularly concordance rates in twin pairs and siblings, strongly implicate genetic susceptibility in the pathogenesis of CIBD. In fact, the relative contribution of genetic factors to the pathogenesis of CD may be greater than in schizophrenia, asthma or hypertension, and at least equivalent to that in insulin-dependent diabetes. Systematic screening of the entire human genome now provides a strategy for the identification of susceptibility genes in complex polygenic disorders. We undertook a two-stage genome search for susceptibility genes in inflammatory bowel disease involving 186 affected sibling pairs from 160 nuclear families. We provide strong evidence for the presence of susceptibility loci for both CD and UC on chromosome 3, 7 and 12. We obtained the highest lod score (5.47; P = 2.66 x 10(-7) with the marker D12S83 and lod scores of 3.08 and 2.69 for D7S669 and D3S1573, respectively. Our data suggest that CD and UC are closely related, but distinct, polygenic disorders that share some, but not all, susceptibility genes.
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PMID:Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. 884 Nov 95

Although monogenic diseases often show extreme clinical phenotypes, the major burden of genetic ill health lies in the more prevalent polygenic disorders, such as diabetes, hypertension and multiple sclerosis. These conditions affect many thousands of individuals and their management consumes vast amounts of health care resources: in the UK some 80,000 people have multiple sclerosis; the estimated financial cost to society of introducing treatments, such as beta interferon, could be as high as 250 million pounds per year. Knowledge on the genetics of these common diseases is poor, but has potentially received a considerable boost with the arrival of whole genome screening. The genome screen in insulin-dependent diabetes mellitus (IDDM) reported in 1994 was the first in a human polygenic disease. Since this publication, whole genome screening has been performed in a variety of human polygenic diseases, including schizophrenia, bipolar affective disorder, non-insulin-dependent diabetes mellitus (NIDDM), inflammatory bowel disease, asthma and multiple sclerosis.
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PMID:The genetic analysis of multiple sclerosis. 919 29

The management of the behavior of mentally challenged adults when providing required dental care is often a problem, whether in the dental office or in a hospital setting. Our institution has a designated program to provide required dental care to this group of patients. Because of the high incidence of poor cooperation, which may include aggressive antagonistic behavior, many of these patients are scheduled for dental care under general anesthesia with an incomplete preoperative medical assessment. The purpose of this study was to determine the impact and limitations that an incomplete medical assessment may present in the delivery of dental care under general anesthesia to these adults with developmental disability. After approval from the institutional review board, the medical records of 139 patients treated in this program between 1992 and 1994 were reviewed to determine the patient profiles, anesthesia management, and complications. The charts of these patients, who underwent dental and radiographic examination, scaling and prophylaxis, and restoration and extraction of teeth under general anesthesia, were reviewed. There were 149 procedures performed on these patients, some more than once. The mean age was 29.5 yr. Males predominated females by a ratio of 2:1. All had multiple diagnoses, medical problems, and medications. Twenty-three patients had Down's Syndrome, four had schizophrenia disorders, 42 had seizure disorders, 11 had hypothyroidism, seven had heart disease, and 14 had central nervous system and neuromuscular disorders. The remainder had a variety of diagnoses, including rare syndromes. One hundred had intravenous (i.v.), 25 had mask inhalation, and 24 had intramuscular ketamine (Ketalar) induction. Nasotracheal intubation was uneventful in 139 patients, five had difficult visualization of the larynx and intubation. Ten patients experienced intraoperative complications, including nonfatal ventricular arrhythmia, slight fall in blood pressure and hypertension (greater than 20% of preoperative value), and four individuals developed laryngospasm. In the Post Anesthetic Care Unit, five patients experienced minor airway problems resulting in a desaturation of oxygen to a level below 85%. Adults with developmental disabilities can be safely managed under general anesthesia for dental treatment in a hospital setting with minimal morbidity and without extensive preoperative investigations.
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PMID:General anesthesia for the provision of dental treatment to adults with developmental disability. 979 4

About the 'Omnipotence' of the Chelation Therapy In the eighties the 'method of treatment proven in many thousands of cases over 20 years' was transferred from the USA to Germany (enjoys a priori considerable faith) using very dubious promises. It was Clarke et al. who introduced this 'therapy' in 1955. The dubious promise was to maintain that the chelation therapy eliminates or alleviates symptoms in the case of the following illnesses: Alzheimer's disease, senility, schizophrenia, rheumatoid arthritis, osteoarthritis, gout, renal calculus, apoplectic coma, gallstones, multiple sclerosis, osteoporosis, chronic fatigue syndrome, varicose veins, hypertension, failure of memory, scleroderma, Raynaud's disease, digitalis intoxication, intermittent claudication, diabetic ulcer, disturbance of the blood supply, ulcer on the legs, snake poison, impotence, emotional difficulties, defective hearing, vision disorder. There is not the slightest proof of effectiveness for any of the listed indications. The burden of proof lies with the supplier. Even in the case of the relatively often examined peripheral atherosclerotic changes (claudicatio intermittens) there is no proof that EDTA has a greater effect than placebo. For coronary heart disease too there is no evidence for any usefulness of the chelation therapy beyond that of a placebo effect. Only controlled studies can help to improve the therapy in the sense of 'Evidence-based medicine'. Retrospective investigations on thousands of patients cannot 'prove' anything, although this is maintained again andagain.
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PMID:ber die laquo;Omnipotenz>> der Chelattherapie. 997 59

This study determined the prevalence of medical comorbidities in a cohort of persons receiving treatment for schizophrenia and the association of medical comorbidity with physical and mental health status. A total of 719 persons with schizophrenia sampled from a variety of community and treatment settings as part of the schizophrenia Patient Outcomes Research Team (PORT) participated in a survey interview. Multiple regression analyses were used to assess sociodemographic factors associated with the number of current medical comorbidities and the association of medical comorbidity count with patient ratings of physical health, mental health, symptoms, and quality of life. The majority of patients reported at least one medical problem. Problems with eyesight, teeth, and high blood pressure were most common. A greater number of current medical problems independently contributed to worse perceived physical health status, more severe psychosis and depression, and greater likelihood of a history of a suicide attempt. This study underscores the need to attend to somatic health care for persons with schizophrenia as well as the linkage of physical and mental health status.
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PMID:The association of medical comorbidity in schizophrenia with poor physical and mental health. 1046 67

This report describes two cases of acute zolpidem overdose. The decedent in the first case was a 36-year-old female found dead in bed in her secured home. She had a history of psychiatric illness, including paranoid disorder, depression with panic episodes, and post-traumatic stress disorder. She was treated with risperidone and sertraline. Nine months prior to her death, the decedent was also prescribed zolpidem (Ambien). The postmortem examination revealed white foam within the larynx and upper trachea, which is indicative of pulmonary edema. Toxicological analyses of the urine showed the presence of caffeine, risperidone, and zolpidem. Subsequent quantitation of postmortem iliac serum revealed 5.6 microg/L of 9-hydroxyrisperidone and the following zolpidem concentrations: blood (subclavian), 4.5 mg/L; blood (iliac), 7.7 mg/L; vitreous humor, 1.6 mg/L; bile, 8.9 mg/L; urine, 1.2 mg/L; liver, 22.6 mg/kg; and gastric contents, 42 mg. The second case involved a 58-year old female, also found dead in bed, with white foam around her mouth. The decedent had a 25-year history of hypertension and mental illness--manic depression and schizophrenia. She was medicated with carbamazepine, naproxen, risperidone, and zolpidem. The postmortem examination revealed cardiomegaly, pulmonary edema, hepatomegaly, mild coronary atherosclerosis, and no signs of trauma. Toxicological analyses of the urine showed the presence of zolpidem and carbamazepine and metabolite. Zolpidem concentrations were as follows: blood (iliac), 1.6 mg/L; vitreous humor, 0.52 mg/L; bile, 2.6 mg/L; liver, 12 mg/kg; and gastric contents, 0.9 mg. The zolpidem blood concentrations of these cases are consistent with those of the previously published fatalities. The blood/vitreous humor ratios of zolpidem were 2.81 (subclavian) and 4.81 (iliac) in the first case and 3.08 (iliac) in the second case. These ratios, along with the sampling times of blood and vitreous humor for both cases, are not conclusive to indicate a definitive presence or absence of postmortem drug redistribution of zolpidem. The cause of death for both cases was determined to be acute zolpidem overdose, and manner of death was suicide.
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PMID:Acute zolpidem overdose--report of two cases. 1051 69

Obesity and overweight are clearly associated with many serious conditions, including type II diabetes mellitus, hypertension, and coronary heart disease. Excess weight also increases the risk of death. Recent evidence suggests that weight gain itself, even if persons remain within the "normal" weight range, also increases the risk of medical illnesses and premature death. Persons who gain 5.0 to 7.9 kg (11 to 17.3 lb) as adults are 1.9 times more likely to develop type II diabetes mellitus and 1.25 times more likely to develop coronary heart disease than those who lose weight or maintain a stable weight after age 18 years. Gaining 11 to 20 kg (24.2 to 44 lb) or more in adulthood increases the risk of ischemic stroke 1.69 to 2.52 times. The relationship between weight gain and breast cancer has been difficult to study, primarily because postmenopausal hormone replacement therapy can mask the effect of weight gain on cancer risk. Accordingly, weight gain in adulthood has been associated with an increased risk of breast cancer only among women who have never used hormone replacement therapy. In addition to its adverse effects on disease outcomes, weight gain also impairs physical functioning, reduces quality of life, and is associated with poor mental health. These psychological and mental health consequences of weight gain can become an added burden for patients with schizophrenia and other mental disorders.
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PMID:Physical and psychological consequences of weight gain. 1054 35

In a 40-year old patient with schizophrenia treated with sustained-action perfenazine for schizophrenia, diabetes mellitus type 2 and hypertension developed when clozapine was added to the regimen. The blood sugar values and the blood pressure normalized when clozapine was discontinued two weeks later. When he was 44 years old, clozapine was resumed as the psychotic symptoms did not subside. Diabetes mellitus reappeared and did not disappear after discontinuation of the clozapine. Insulin therapy was necessary. An association between the emergence of diabetes mellitus and the use of clozapine is suggested. Previously 15 cases of diabetes mellitus emerging during treatment with clozapine were described in the international literature. Monitoring of blood glucose is advised in patients with a positive family history of diabetes mellitus or with a personal history of impaired glucose tolerance.
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PMID:[Diabetes mellitus after treatment with clozapine]. 1093 6

We report an unusual case of thrombocytopenia associated with neuroleptic malignant syndrome (NMS). A 31-year-old Black male with a history of hypertension, partial seizures, and schizophrenia developed acute rigidity closely followed by severe hyperpyrexia (temperature 102 degree F), tachypnea, and tachycardia. His home medications at the time of presentation included propanolol 10 mg tid, haloperidol 10 mg bid, sodium valproate 500 mg bid, benztropine 1 mg bid, and haloperidol decanoate 100 mg i.m. every 3 weeks, from another psychiatric facility. Despite vigorous therapy for the hyperthermia, he rapidly developed significant hypoxia requiring mechanical ventilation. A diagnosis of neuroleptic malignant syndrome was made and the patient continued to receive aggressive supportive care. On hospital day 2 his platelet count dropped to 47,000/microl and bottomed out at 36,000/microl by day 3 with other blood cell counts remaining within normal limits. Over the next few days he showed rapid clinical improvement with normalization of his blood chemistries and he was discharged home after 5 days of hospitalization in good condition.
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PMID:Neuroleptic malignant syndrome and severe thrombocytopenia: case report and literature review. 1079 26

Evidence from nearly a century of epidemiological research indicates that schizophrenia occurs in all populations with a prevalence in the range of 1.4 to 4.6 per 1000 and incidence rates in the range of 0.16-0.42 per 1000 population. Multi-centre studies conducted by the World Health Organization have highlighted important differences between 'Western' and 'Third World' populations as regards the course and outcome of the disorder, with a significantly better prognosis in the developing countries. The factors underlying the better outcome of schizophrenia in developing countries remain essentially unknown but are likely to involve interactions between genetic variation and specific aspects of the environment. These features place schizophrenia, along with diabetes, cancer and hypertension, into the group of genetically complex diseases which are characterised by polygenic transmission, locus heterogeneity and environmental contribution to causation. The emerging pattern of risk factors and antecedents of schizophrenia suggests multiple, mainly quantitative deviations from the average developmental trajectory, primarily in the areas of early neurodevelopment, cognitive ability and social behaviour. These deviations are compatible with the notion of non-specific background factors facilitating the operation of genetically determined causal pathways. Research likely to result in new insights should focus on the population distribution and behavioural effects of potential risk factors and markers suggested by biological and genetic research.
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PMID:Epidemiology of schizophrenia: the global burden of disease and disability. 1115 62


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