Gene/Protein Disease Symptom Drug Enzyme Compound
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This paper presents epidemiological data on the prevalence of 26 common (i.e., having a lifetime prevalence of more than 1 per 10(4) individuals in the population) multifactorial diseases in Hungary and estimates of detriment associated with them. The detriment is expressed using 3 indicators, namely years of lost life (LL), potentially impaired life (PIL) and actually impaired life (AIL). The total prevalence of these diseases in Hungary has been estimated to be about 6500 per 10(4) individuals in the population. This estimate is in agreement with published data for other parts of the world. On the basis of clinical severity, these diseases have been split into 3 groups, namely (1) very severe (schizophrenia, multiple sclerosis, epilepsy, acute myocardial infarction and related conditions, and systemic lupus erythematosus); (2) moderately severe and/or episodal or seasonal (15 entities including Graves' disease, diabetes mellitus, gout, affective psychoses, essential hypertension, peptic ulcers, asthma, etc.); and (3) less severe than those in the first 2 groups (varicose veins, allergic rhinitis, atopic dermatitis, Scheuermann disease and adolescent idiopathic scoliosis). The essential clinical and genetic aspects of these diseases are briefly discussed. With the exception of epilepsy, none of the diseases included in our list causes mortality between ages 0 and 19. However, they are among the leading causes of death between ages 20 and 69 and thereafter. A sizeable proportion of those with essential hypertension, diabetes mellitus, rheumatoid arthritis, etc. survive to 70 years and beyond, as do those with gout, glaucoma, allergic rhinitis, psoriasis, etc. Overall, about 16% of all deaths that occur in Hungary every year (all age groups) can be attributed to these diseases. The mean number of years of PIL covers a wide range (about 20-40, 12-70 and 40-60 for groups 1, 2 and 3, respectively), the overall mean being about 24 years. However, the nature and degree of impairment and the impact on the life quality of those afflicted differ for the different diseases. Likewise, the mean number of years of AIL (for which the interval between the mean age at premature retirement and mean age at death was used as a rough index) also spans a wide range from 16 to 45, and the overall mean is about 20 years. At the population level, the diseases considered in this paper cause about 2700 years of LL, 96,000 years of PIL and about 5800 years of AIL per 10(4) individuals in the population. Relative to Mendelian diseases as a whole, these multifactorial diseases are associated with much greater detriment (LL: 1.4 X; PIL: 30 X and AIL: 3.9 X).
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PMID:The load of genetic and partially genetic diseases in man. II. Some selected common multifactorial diseases: estimates of population prevalence and of detriment in terms of years of lost and impaired life. 305 77

At age 17 years Israelis undergo medical examination for the purpose of health classification for military service. The potential use of this extensive data collection system for epidemiologic studies is illustrated for selected conditions. Trends in diagnosed disorders over a 25-year period are exemplified in the changing prevalence of tuberculosis, bronchial asthma, diabetes, epilepsy and heart defects. Within birth cohorts, cross-sectional analyses of height, body mass, blood pressure and disorders--such as bronchial asthma, allergic rhinitis, diabetes, psychiatric diagnoses and such genetic conditions as familial Mediterranean fever--point to clear ethnic differences. Educational level is strongly associated with measures of health status. Potential uses of this resource include: detecting groups in need of preventive, curative and rehabilitative care, assessing changing needs and priorities of health care, evaluation of intervention programs and health services provided in childhood, a wide spectrum of etiologic studies including assessment of health effects of social change, follow-up studies including the natural history of disorders, and developing data systems such as national registries of rare or important conditions. Issues relating to data reliability and validity, changing disease classification and nonexamination of groups exempted from military service limit interpretation of findings and restrict uses of this resource. Emphasis on standardization of data collection and diagnostic criteria, quality assurance and improved data management will be necessary.
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PMID:Medical examination of Israeli 17-year-olds before military service as a national resource for health information. 374 78

The study was conducted on 474 children diagnosed at the Lung Function Laboratory of the Children' Hospital in Lublin in the year 1992. 55% of the analyzed children were males. The children's initial diagnosis were: bronchial asthma, allergic rhinitis, chronic respiratory disorders, diabetes mellitus, abnormalities of the thorax. In 28 children no abnormalities were detected. PEF was measured with a Peak Flow Meter produced by Vitalograph. Children in the age group 4-6 years had PEF measured with a mini meter, reading values between 0 to 300 L/min. A standard meter was used for older children detecting values between 0 to 700 L/min. Spirometry, MEFV curves, resistance were analyzed with the abcPNEUMO 2000 spirometer (abcMED). Correlation was calculated between PEF and FEV1, MEF25, MEF50, MEF75, PEF, PIF, FEV1%FVC, Raw. Multiple regression analysis was performed to identify the best subpopulation of independent variants. In all children a correlation was found between PEF and the major parameters of airways potency. The weakest correlation was found in children younger than 6 years. PEF correlated best with FEV1 and MEF75.
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PMID:[Correlation between peak expiratory flow and selected indices of bronchial potency in children between 4 and 18 years of age]. 764 34

The Central Medical Pharmaceutical Committee of the Health Insurance Council informs the medical profession annually about the effects of drugs through the Pharmacotherapeutical Compass. The 1998 edition now contains a chapter on pharmacokinetics as well. Compared with previous editions the main alterations of the contents concern an introduction and advice on the antidepressants, two protocols with respect to the medical treatment of patients suffering from epilepsy, advice with respect to oral drugs for the treatment of inflammatory bowel disease, an introduction and advice regarding the treatment of allergic rhinitis, the treatment of patients suffering from AIDS with antiretroviral drugs, the treatment of genital herpes, the taking of insulin lispro by patients with diabetes and the taking of bisphosphonates to prevent or to treat osteoporosis. Two corrections to the 1998 edition are given.
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PMID:[Pharmacotherapeutic compass 1998]. 975 45

Recurrent vaginal candidiasis is a worldwide problem affecting millions of women. Candida albicans is a potent allergen in some situations and it has been suggested that local hypersensitivity to this yeast can be a factor in the prolongation of the disease. A small number of studies show some benefits of allergen immunotherapy in these patients. We evaluated the efficacy of C. albicans allergen immunotherapy in women with immediate skin test positive for this fungus. We conducted a prospective cohort study of women with recurrent vaginal candidiasis referred by gynecologists to an allergist. All patients had established positive C. albicans in vaginal cultures and were unresponsive to other modes of treatment. None had diabetes or AIDS. In their allergy evaluation, they had an immediate (prick or intradermal) skin test positive to C. albicans. These women were offered the option of C. albicans allergen immunotherapy for a period of 24 months. The efficacy of therapy was evaluated by comparison of the mean incidence of episodes per year before and after immunotherapy Over a period of 33 months, 34 women were enrolled (mean age 33.5 years; range 18-57). They were treated with weekly injections of C. albicans allergenic extract over a mean (+/- SD) period of 17.4+/-7.2 months (4-24 months). Twenty-two of the women had improvement in symptoms. There were complete responses, i.e., absence of acute episodes for 2 years, in nine patients (26%) and partial responses, i.e., decrease in the number and intensity of episodes, in 13 patients (38%). Overall there was a 64% improvement in these patients (95% CI: 46.5-79.9). Eleven patients showed no improvement and one worsened. The effects were evident after 2-12 months of therapy (mean 3.5 months). The mean incidence of episodes of vaginitis per year decreased from a mean (+/- SD) of 8.5+/-2.6 to 3.6+/-4.3 (p = 0.000). The study also showed that the majority of patients were atopic (70%), had allergic rhinitis (67%) and familial history of allergy (70%). Our results suggest that in a subgroup of patients with recurrent vaginal candidiasis, C. albicans allergen immunotherapy lowers the number and intensity of episodes.
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PMID:Candida albicans allergen immunotherapy in recurrent vaginal candidiasis. 1110 44

Patient and physician perspectives on the impact and management of perennial (PAR) and seasonal allergic rhinitis (SAR) were studied. In all, 2139 subjects were questioned about their medical conditions, severity and frequency of symptoms and satisfaction with treatment. A group of general practitioners (GPs) were also invited to discuss their experiences in the management of rhinitis. In this UK survey, allergic rhinitis was more common than asthma, hypertension, skin rashes, eczema and diabetes. The prevalence of SAR and PAR was 15% and 2%, respectively. Sneezing and runny nose were the most common symptoms and GPs were the main contact for advice and treatment (54% of patients). Symptoms were well-controlled in 32% of patients. Allergic rhinitis affected work, home and social life in 29%, 34% and 30% of patients, respectively. The GPs considered PAR to be more difficult to treat than SAR, and GP and patient level of satisfaction in the treatment of PAR was low. This suggests that education of patients and physicians on the benefits of allergen avoidance, and the selective use of the highly effective therapies available on prescription could improve the level of satisfaction with therapy. Adherence to current guidelines on the management of rhinitis could lead to an effective, structured treatment plan for patients.
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PMID:Patient and physician perspectives on the impact and management of perennial and seasonal allergic rhinitis. 1112 98

Allergy to common buckwheat (Fagopyrum esculentum) has been reported from Europe and Japan, and a 24 kDa globulin protein has been identified as one of the major allergens. In China also another type, tartary buckwheat (Fagopyrum tartaricum) is grown and consumed. Three groups of individuals in Shanxi province, China, were investigated for buckwheat allergy using skin prick test. The groups were: agricultural researchers with occupational exposure to buckwheat (N = 16); workers in a food industry producing buckwheat noodles (N = 25), and patients with diabetes or cardiovascular disease consuming buckwheat as functional food (N = 20). Information on atopic disorders and adverse food reactions were collected by a doctors-administered questionnaire. One male industrial worker had a positive skin prick test to buckwheat, but no symptoms while eating or handling buckwheat products. In total, 34% consumed buckwheat food at least every week, and 23% had a weekly consumption of tartary buckwheat. The prevalence of doctor's diagnosed asthma was low (1.6%). Four subjects (6.6%) reported a history of allergic rhinitis, with allergy to cedar pollen, carnation and peach.
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PMID:Buckwheat allergy and reports on asthma and atopic disorders in Taiyuan City, Northern China. 1127 Apr 69

Bradykinin is formed by the interaction of factor XII, prekallikrein, and high-molecular-weight kininogen on negatively charged inorganic surfaces (silicates, urate, and pyrophosphate) or macromolecular organic surfaces (heparin, other mucopolysaccharides, and sulfatides) or on assembly along the surface of cells. Catalysis along the cell surface requires zinc-dependent binding of factor XII and high-molecular-weight kininogen to proteins, such as the receptor for the globular heads of the C1q subcomponent of complement, cytokeratin 1, and urokinase plasminogen activator receptor. These 3 proteins complex together within the cell membrane, and initiation depends on autoactivation of factor XII on binding to gC1qR (the receptor for the globular heads of the C1q subcomponent of complement). There is also a factor XII-independent bypass mechanism requiring a cell-derived cofactor or protease that activates prekallikrein. Bradykinin is degraded by carboxypeptidase N and angiotensin-converting enzyme. Angioedema that is bradykinin dependent results from hereditary or acquired C1 inhibitor deficiencies or use of angiotensin-converting enzyme inhibitors to treat hypertension, heart failure, diabetes, or scleroderma. The role for bradykinin in allergic rhinitis, asthma, and anaphylaxis is to contribute to tissue hyperresponsiveness, local inflammation, and hypotension. Activation of the plasma cascade occurs as a result of heparin release and endothelial-cell activation and as a secondary event caused by other pathways of inflammation.
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PMID:Pathways for bradykinin formation and inflammatory disease. 1184 87

The elevated incidence of short stature (body height < (-)x - 2s), skeletal retardation and delayed puberty in children with bronchial asthma or atopic dermatitis is generally attributed to the severity of the disorder. However, a series of findings indicate a causal influence of the atopy and the existence of atopic skeletal retardation per se.The observation that children with atopic disorders, whether bronchial asthma, atopic dermatitis or allergic rhinitis, exhibit a rate of short stature that is twice to five times higher than normal indicates atopic and thus genetically determined influences. The elevated prevalence of short stature associated with allergic rhinitis is especially significant, as this disorder cannot be included among the severe chronic disorders. The fact that skeletal retardation is more prevalent in boys than in girls by a ratio of about 2:1 and that a significantly more marked retardation of bone maturation is found in atopic in comparisons with non-atopic asthmatics also lend support to this postulation. The clinical relevance of atopic growth retardation is also supported by the close interaction of pathophysiological basal mechanisms of bone metabolism and the atopy status. Thus the local growth factor prostaglandin E(2) (PGE(2)), which is important for bone metabolism, is also a messenger substance for the immediate and late allergic reaction. The platelet-activating factor (PAF), as one of the strongest mediators in the pathogenesis of allergic disorders, influences the PGE(2) synthesis in the osteoblasts. These relationships show that atopy-dependent imbalances in the complex system of local and systemic growth factors can certainly lead to disturbance of skeletal maturation which may delay growth and development in atopic children. In order to verify these assumptions it is necessary to research the interaction of local growth factors (particularly the roles of PGE(2), PAF and IGF I) in the skeletons of children of short stature suffering from atopic disorders. This should also include the possible effects on the overall hormonal factors influencing bone maturation. Atopy should be included in the differential diagnosis programme to clarify growth and development disturbances.
Exp Clin Endocrinol Diabetes 2002 Apr
PMID:Delay of growth and development in children with bronchial asthma, atopic dermatitis and allergic rhinitis. 1192 66

A 71-year-old black woman was admitted to the hospital with a 2-month history of a nonhealing leg ulcer. Her medical history included diabetes mellitus type 2, congestive heart failure, allergic rhinitis, and asthma. The patient's asthma was labile and steroid-dependent until 2 years before admission, at which time zafirlukast therapy was started. On further questioning, the patient revealed a 6-month history of malaise and a 40-lb weight loss. A physical examination showed a 2-cm Stage 3 ulcer on the medial aspect of the right ankle with diminished sensation in both feet and left footdrop. Electromyography revealed mononeuritis multiplex. The patient's white blood cell count was 11,100/mm3 with 60% eosinophils. A sural nerve biopsy showed vasculitis consistent with Churg-Strauss syndrome. One week after prednisone therapy was initiated, the patient's foot strength was nearly normal and her eosinophilia had resolved. Although Churg-Strauss syndrome is a rare disorder, in the setting of asthma and multiple disparate signs and symptoms, the broad diagnostic category of serious vasculitic illness should be considered.
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PMID:Asthma associated with worsening leg ulcer: a case of vasculitis in primary care. 1294 Mar 19


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