Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A mitochondrial A 3243 G mutation in the tRNA(Leu(UUR)) gene was first described as a common cause of MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome). This same mutation is also the cause of a totally different disorder, a subtype of diabetes mellitus which is inherited maternally and often associated with sensorineural hearing loss. In this paper, we report on a Japanese boy with A 3243 G who developed a previously undescribed combination of symptoms, nephropathy and growth hormone deficiency. The patient first presented with short stature and moderate mental retardation. Growth hormone (GH) provocation tests showed deficient growth hormone secretion. During the course of follow up, he presented with progressive nephropathy followed by the development of diabetes mellitus. The results of laboratory tests and renal biopsy were against incidental association of known types of nephropathy. On PCR-RFLP analysis, the percentage of mutated mtDNA was higher in the renal biopsy specimen than 12 peripheral blood leucocytes. Our case suggests that mitochondrial diseases should be taken into account when there is nephropathy of unknown cause. In addition, the presence of growth hormone deficiency may account for part of the mechanism leading to short stature commonly seen in these patients.
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PMID:Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. 881 55

A case of pituitary apoplexy occurring after subtotal thyroidectomy in an acromegalic woman with a large adenomatous goiter is described. The patient had severe apnea because the large goiter was causing airway compression. Prior to the planned hypophysectomy, a subtotal thyroidectomy was performed to relieve tracheal stenosis. Shortly after the operation, the patient developed a headache that lasted for several days. The serum levels of growth hormone and somatomedin-C spontaneously normalized seventeen days after this episode and have remained normal for two years. Pituitary apoplexy was thought to have caused the observed results without deterioration of the pituitary function.
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PMID:Pituitary apoplexy after subtotal thyroidectomy in an acromegalic patient with a large goiter. 883 99

Eight children with either panhypopituarism, severe growth hormone deficiency or neurosecretory dysfunction for growth hormone with a common history of umbilical cord encirclement around the neck underwent magnetic resonance imaging of the pituitary gland and the hypothalamus. Panhypopituitarism was associated with small to absent adenohypophysis, narrow or absent stalk and ectopic neurohypophysis whereas patients with partial GHD showed normal anatomical structures. Etiology of the endocrinopathy could be a primary malformation of the pituitary gland, an apoplexy of the gland or disturbation within the hypothalamus. We believe that the latter cause is predominant in umbilical cord encirclement.
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PMID:[Magnetic resonance tomography studies of the hypophysis in children with growth hormone deficiency, born with umbilical cord entanglement]. 885 23

The physiologic trophic factors growth hormone (GH) and insulin-like growth factor 1 (IGF-1) generally increase body weight and cardiac mass proportionately, and several studies suggest that both growth factors cause vasodilation and increased myocardial contractility. Established clinical benefits of ACE inhibitors can be explained, at least in part, by inhibition of cell hypertrophy, lowered systemic vascular resistance (SVR) and afterload, leading to reduction of progressive left-ventricular (LV) enlargement. An alternative approach would be to administer IGF-1 or GH to stimulate compensatory hypertrophy and reduce afterload by their vasodilator action, as well as through potential favorable effects on myocardial contractility. In our initial study in the rat myocardial infarction (MI) model, when IGF-1 was administered early (at 2 days) post-MI and continued for 2 weeks, body weight (BW) increased and LV weight/BW remained unchanged, the LV end-diastolic volume (EDV) and stroke volume increased (but not when normalized to BW), and the LV ejection fraction increased in rats with large infarctions. These findings suggested a beneficial rather than detrimental effect of such treatment, and we then studied the action of combined IGF-1 and GH starting after infarct healing at 4-weeks' post-MI. BW increased substantially and LVEDV/BW was lower in treated rats than in control rats, suggesting relatively less LV dilation with little remodeling in this setting; IGF-1/GH increased the cardiac output by 46%, systemic vascular resistance (SVR) fell and the cardiac index (CI) was significantly elevated in treated rats with a large MI. Recently, others have used the rat MI model to study the effects of 2-weeks' of GH started at 4-weeks' post-MI, as well as IGF/GH for 2-weeks in rats treated with an ACE inhibitor for 3-month's post-MI. In both studies, in conscious treated rats the BW increased, LV/BW was not different compared to the control rats, but the CI increased, SVR fell, and estimated LV dP/dtmax was significantly augmented. Preliminary data in our laboratory suggest that beneficial effects may also occur with GH administration in the setting of chronic angiotensin II receptor blockade (losartan) after MI in the rat. Thus, growth factor therapy appears to have favorable effects in heart failure early and late after MI in the rat. Additional cardiac hypertrophy occurs early after MI, but the later beneficial effects appear to relate primarily to systemic vasodilation, improved cardiac output, and enhanced myocardial contractility.
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PMID:The role of hypertrophy and growth factors in heart failure. 895 69

The primary nutritionally linked diseases are coronary heart disease, stroke and cancers of the stomach, colon, pancreas, prostate, breast, ovary, and endometrium. Dietary fats operate through a promoting mechanism. An S-shaped dose-response curve with a threshold has been demonstrated in models of breast and colon cancer in which the standard Western fat intake of 40% of energy yields a high level of promotion, and reduction of fat to 10% to 20% of energy (the traditional Japanese fat intake) has a low promoting action. In models of breast and colon cancer, saturated fats such as beef fat or lard, and monounsaturated oils, such as olive oil, display only a weak promoting effect, with the incidence of induced tumors being similar at intake levels of 40% and 10% of energy. On the other hand, the n-6-polyunsaturated oils display a strong promoting effect. Such findings may have a parallel in the low but definitely increasing slope of postmenopausal breast cancer incidence in the past 30 years as the American public decreased saturated fat intake to avoid heart disease and increased use of the n-6-polyunsaturated oils. Mechanisms underlying the cancer-promoting effect in the colon stem from increased hepatic production of bile acids, which are transferred to the intestinal tract via the bile. Ingestion of 40% fat calories yields higher concentrations of bile acids in the colon than lower levels of dietary fat ingestion. Cancer in the mammary gland is promoted through higher concentrations of fats and phospholipids in the gland as well as increased levels of estrogen secondary to production by the ovary and other endocrine tissues that, in turn, affect the generation of pituitary hormones such as prolactin and growth hormone. The n-3-fats, as found in fish and fish oils, have a pronounced inhibitory effect in models of colon and breast cancer, presumably through their shifting of prostaglandin metabolism to the generation of prostaglandins, which lower cell proliferation potential and, thus, decrease promotional effects. The role of dietary fat as a promoter can be modified by other nutritional components. Finally, one of the best pieces of evidence for an enhancing effect of many dietary fats in the nutritionally linked cancers is the current increase in the incidence of these diseases in Japan as the nutritional habits of people in that country become more Westernized.
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PMID:Dietary fat and risk of chronic disease: mechanistic insights from experimental studies. 921 63

The statistical associations between stress and cardiovascular and other prevalent diseases have not been explained. Perceived stress, resulting in an uncontrollable defeat reaction, has been shown by James Henry (Henry 1993) to be followed by specific endocrine abnormalities, including sensitization of the hypothalamo-pituitary-adrenal (HPA) axis, and inhibited sex steroid and growth hormone secretions. With an elevated waist/hip circumference ratio (WHR)--a simple, surrogate, measurement of intraabdominal, visceral fat masses--combined with insulin resistance, similar endocrine perturbations are found. Based on considerable evidence, such endocrine abnormalities seem to be followed by accumulation of intraabdominal, visceral fat masses and insulin resistance, both powerful risk factors for cardiovascular disease, diabetes and stroke. A postulated chain of events is therefore that the endocrine perturbations are primary factors, followed by visceral fat accumulation, insulin resistance and other risk factors dependent on the hyperinsulinemia following insulin resistance. This highlights the importance of elucidating the cause(s) to the endocrine abnormalities. These are identical to those described by Henry (1993) to follow a stress reaction of a defeat type. Findings of several psychosocial and socio-economic handicaps might provide a basis for such a reaction, supported by experimental studies in primates. Furthermore, depression, anxiety, alcohol consumption and smoking, all known activators of the HPA axis, are also often found. The low sex steroid and growth hormone secretions might be secondary to the hypersensitive HPA-axis. They could also be caused by other factors, and are, each alone, capable of causing both visceral fat accumulation and insulin resistance. Visceral fat accumulation is only an indirect, surrogate measurement of the underlying endocrine abnormalities, but is useful for screening purposes on a population basis. Developments of novel techniques for sensitive, yet simple measurements of HPA axis activity under undisturbed conditions seem to allow a better definition of pathogenetic factors. Utilizing such methods, subgroups of the syndrome including visceral fat accumulation, insulin resistance and other associated risk factors (Metabolic Syndrome), are beginning to emerge. A more detailed information on noxious factors in society leading to a defeat reaction to perceived stress, endocrine abnormalities and the Metabolic Syndrome, with increased risk for prevalent disease may hopefully be developed by these new methods.
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PMID:Stress and cardiovascular disease. 940 28

We investigated endocrine function in patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonus epilepsy associated with ragged-red fibers (MERRF), and chronic progressive external ophthalmoplegia (CPEO). Hypothalamic-pituitary function was impaired in all three patients with MELAS or MERRF, but none of four with CPEO. A MELAS patient with dwarfism and impaired adolescent development had decreased growth hormone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH). A MERRF patient had emaciation and low adrenocorticotropin. A patient with mitochondrial encephalomyopathy transitional between MELAS and MERRF showed delayed, blunted LH and FSH response to LH-releasing hormone stimulation. We concluded that patients with mitochondrial encephalomyopathies, especially MELAS or MERRF, are likely to have hypothalamic-pituitary dysfunction.
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PMID:Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies. 970 89

Accumulating evidence has indicated that insulin-like growth factor-1 (IGF-1) plays a specific role in the intricate cascade of events of cardiovascular function, in addition to its well established growth-promoting and metabolic effects. IGF-1 is believed to mediate many effects of growth hormone (GH), IGF-1 promotes cardiac growth, improves cardiac contractility, cardiac output, stroke volume, and ejection fraction. In humans, IGF-1 improves cardiac function after myocardial infarction by stimulating contractility and promoting tissue remodeling. Furthermore, IGF-1 facilitates glucose metabolism, lowers insulin levels, increases insulin sensitivity, and improves the lipid profile. These data suggest an attractive therapeutic potential of IGF-1. Both clinically observed and experimentally induced impairments of cardiac function are also found to be associated with abnormal IGF-1 levels. IGF-1 and its binding proteins have been considered as markers for the presence of certain cardiac abnormalities, indicating that IGF-1 may be a risk factor for certain cardiac disorders. The present review will emphasize the role of IGF-1 in the regulation of cardiac growth and function, and the potential pathophysiological role of IGF-1 in cardiac function.
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PMID:Insulin-like growth factor I as a cardiac hormone: physiological and pathophysiological implications in heart disease. 1059 Oct 31

A 50-year-old male with acromegalic features presented with a pituitary stone in a growth hormone-secreting adenoma. Endocrinological examination showed "low growth hormone acromegaly." The serum growth hormone level responded to the thyrotropin-releasing hormone test and was not suppressed by oral glucose loading. Neuroimaging revealed an adenoma including a large calcification (pituitary stone) located in the right lateral wing. The adenoma with stone was totally removed by transsphenoidal surgery. The patient regained almost normal response of serum growth hormone. Histological examination showed the stone was composed of thick calcification surrounded by necrotic adenoma tissue and chronic hemorrhage. Large intratumoral pituitary stone is very rare, although calcification is sometimes observed in the adenoma capsule. The long history of this disease and previous apoplexy within the tumor may have caused the pituitary stone in this patient.
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PMID:Pituitary stone--case report. 1092 8

Patients with primary growth hormone (GH) resistance-Laron Syndrome (LS)-have no GH signal transmission, and thus, no generation of circulating insulin-like growth factor-I (IGF-I), and should serve as a unique model to explore the controversies concerning the longterm effect of GH/IGF-I deficiency on cardiac dimension and function. We assessed 8 patients with LS (4 men, 4 women) with a mean (+/- SD) age of 38+/-7 years (range 22 to 45), and 8 aged-matched controls (4 men, 4 women) with a mean age of 38+/-9 years (range 18 to 47) by echocardiography at rest, following exercise, and during dobutamine administration. Left ventricular (LV) septum, posterior wall, and end-diastolic diameter were significantly reduced in untreated patients with LS compared with the control group (p<0.05 for all). Systolic Doppler-derived parameters, including LV stroke volume, stroke index, cardiac output, and cardiac index, were significantly lower (p<0.05 for all) than in the control subjects, whereas LV diastolic Doppler parameters, including mitral valve waves E, A, E/A ratio, and E deceleration time, were similar in both groups. LV ejection fraction at rest as well as the stress-induced increment of the LV ejection fraction were similar in both groups. Our results show that untreated patients with long-term IGF-I deficiency have reduced cardiac dimensions and output but normal LV ejection fraction at rest and LV contractile reserve following stress.
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PMID:Echocardiographic dimensions and function in adults with primary growth hormone resistance (Laron syndrome). 1095 79


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