Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Keratoconus has been associated with various ocular and systemic disorders. It has been linked, in a few cases, with floppy eyelid syndrome (a disorder characterized by a soft rubbery upper tarsus, papillary conjunctivitis and obesity). A 40-year-old male presented with a complaint of gradually decreasing vision in the right eye. An intermittent right exotropia had become constant and he was unable to maintain fixation voluntarily. Corneal findings were consistent with keratoconus. Floppy eyelid syndrome was also diagnosed. An underlying connective tissue disorder may link these two disorders.
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PMID:Floppy eyelid syndrome associated with keratoconus. 159 67

Epidemiologic studies are important for both understanding and defining rheumatology practice. Controversy still exists over whether the incidence of rheumatoid arthritis is declining, and genetic studies indicate a diversity of HLA haplotypes in rheumatoid arthritis. Large longitudinal osteoarthritis studies have helped define diagnostic criteria and the role of obesity in disease progression. The negative association between osteoarthritis and osteoporosis at specific sites continues to be explored, and the value of long-term estrogen therapy in preventing bone loss has been examined. Both retrospective and prospective population studies have been used to describe the relationship between silicone gel breast implants and connective tissue disease. These and other studies have helped to define the important role of epidemiologic research in the understanding of rheumatic diseases.
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PMID:Epidemiology of the rheumatic diseases. 776 99

Coronary angiographic and risk factor (RF) characteristics were analyzed in 133 Japanese patients with ischemic heart disease (IHD) who were less than 40 years old and who had undergone coronary angiography (CAG) during the past 10 years at six university hospitals in the Tokyo area. We compared the coronary angiographic characteristics of the subject group with those of 216 controls with coronary sclerosis detected by CAG who were more than 40 years old (older control group) and the RF characteristics with those of 133 sex- and age-matched volunteers (younger control group). Sixty seven percent of the subjects (89 cases) were diagnosed as having myocardial infarction (MI) and 33% (44 cases) had angina pectoris (AP). Coronary artery disorders in this group consisted of 103 (77%) cases of coronary sclerosis, 20 (15%) cases of coronary spasm and 10 (8%) cases of miscellaneous diseases, eg, possible vasculitis with connective tissue disease, congenital anomalies, etc. The incidences of significant (> or = 75%) sclerotic narrowing in 0 vessels (31%) and 1 vessel (49%) in the subject group were significantly (p < 0.01) higher than those in the older control group, while the incidence of multivessel disease was significantly (p < 0.05) less in the subject group than in the older control group. The incidences of the following coronary risk factors were significantly (p < 0.05) higher in the subjects than in the younger controls: smoking (83% vs 35%), hypercholesteremia (44% vs 10%), obesity (31% vs 9%), hypertension (29% vs 3%), familial IHD (28% vs 7%) and diabetes mellitus (19% vs 2%). Thus, zero- or single-vessel disease predominated in the younger subject group and the prevalence of coronary risk factors was significantly higher in the subject.
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PMID:Angiographic and coronary risk factor analyses of Japanese patients with ischemic heart disease before age 40--a multicenter cooperative study. 895 90

Large increases in mortality related to premature atherosclerosis with coronary artery disease and stroke have been reported in patients with systemic lupus erythematosus (SLE), antiphospholipid syndrome (APLS), or rheumatoid arthritis (RA). Studies found relative risks of 5 for myocardial infarction, 6 to 10 for stroke in SLE patients, and 3.6 for cardiovascular deaths in RA patients. The main risk factors for atherosclerosis included not only the classic factors identified in epidemiological studies such as the Framingham study (advanced age, high cholesterol levels, hypertension, diabetes mellitus, and obesity), but also prolonged glucocorticoid therapy, long duration of SLE, postmenopausal status, and heart failure. SLE per se is an independent risk factor. The current pathogenic hypothesis for atherosclerosis involves an inflammatory response (erythrocyte sedimentation rate, C-reactive protein, and fibrin), autoantibodies, immune complexes (containing antibodies to phospholipids, to oxidized LDLs, and to endothelial cells), cytokine-producing activated T cells, and bacterial or viral infections responsible for an immune response against heat shock proteins (endogenous HSP60 and its equivalent, bacterial HSP65). Early risk factor intervention and effective control of inflammation should be incorporated into the management of connective tissue disease with the goal of protecting patients against atherosclerosis.
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PMID:Atherosclerosis and connective tissue diseases. 1295 20

We report array-CGH screening of 95 syndromic patients with normal G-banded karyotypes and at least one of the following features: mental retardation, heart defects, deafness, obesity, craniofacial dysmorphisms or urogenital tract malformations. Chromosome imbalances not previously detected in normal controls were found in 30 patients (31%) and at least 16 of them (17%) seem to be causally related to the abnormal phenotypes. Eight of the causative imbalances had not been described previously and pointed to new chromosome regions and candidate genes for specific phenotypes, including a connective tissue disease locus on 2p16.3, another for obesity on 7q22.1-->q22.3, and a candidate gene for the 3q29 deletion syndrome manifestations. The other causative alterations had already been associated with well-defined phenotypes including Sotos syndrome, and the 1p36 and 22q11.21 microdeletion syndromes. However, the clinical features of these latter patients were either not typical or specific enough to allow diagnosis before detection of chromosome imbalances. For instance, three patients with overlapping deletions in 22q11.21 were ascertained through entirely different clinical features, i.e., heart defect, utero-vaginal aplasia, and mental retardation associated with psychotic disease. Our results demonstrate that ascertainment through whole-genome screening of syndromic patients by array-CGH leads not only to the description of new syndromes, but also to the recognition of a broader spectrum of features for already described syndromes. Furthermore, on the technical side, we have significantly reduced the amount of reagents used and costs involved in the array-CGH protocol, without evident reduction in efficiency, bringing the method more within reach of centers with limited budgets.
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PMID:Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. 1712 8

Atherosclerosis is a chronic inflammatory disease of the arteries. Clinical consequences of the atherosclerotic process occur in the adult population, however atherosclerotic process begins in childhood. The classic risk factors for atherosclerosis include obesity, dyslipidaemia, age, gender or family history. In recent years, attention has been drawn to the similarity between atherosclerotic inflammatory processes and inflammatory changes in the course of systemic connective tissue disease, in particular systemic lupus etythematosus (SLE) or rheumatoid arthritis (RA). There is also observed the similarity of the pathogenetic background of development of atherosclerosis and juvenile idiopathic arthritis (JIA). Elevated levels of pro-inflammatory cytokines are observed in the course of juvenile idiopathic arthritis. Also homocysteine concentrations, which may play a significant role in the development of atherosclerotic lesions, are observed higher in patients with JIA. Some studies revealed higher carotid intima-media thickness (IMT) index values in children with JIA. In view of the fact that atherosclerotic process begins as early as in childhood, the introduction of appropriate preventive measures in children is a matter of utmost importance.
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PMID:Atherosclerosis in juvenile idiopathic arthritis. 2293 32

Diverticular disease is associated with a high incidence, morbidity and burden of the healthcare system. However, the pathogenesis is not yet satisfactorily clarified and thought to be multifactorial. Non-influenceable risk factors include increasing age, genetic predisposition and rare congenital connective tissue diseases. Influenceable risk factors are low-fiber diet, increased meat consumption and obesity. Alterations of connective tissue lead to a weakening of preformed emergence sites of diverticula ("loci minoris resistentiae") and may explain the increased incidence of diverticular disease in diseases caused by a systematic connective tissue disorder. The impact of neuromuscular alterations and disturbed colonic motility on triggering diverticula formation has been previously underestimated. Moreover, intestinal innervation disorders are considered to be responsable for persisting recurrent pain symptoms in chronic diverticular disease.
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PMID:[Diverticular disease - new insights into pathogenesis]. 2636 Sep 46