Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To clarify the characteristics of CADASIL in Japan, we performed clinical and genetic investigations for six patients from 5 Japanese families diagnosed as CADASIL. We identified that the onset of focal neurologic deficits ranged from 38 to 63 years old (mean 49 +/- 9.4 yrs) and the occurrence rates of main neurologic symptoms and signs were 1/6 for migraine, 3/6 for recurrent stroke episodes, 6/6 for dementia, and 4/6 for pseudobulbar palsy. The marked narrowing of retinal arteries were observed in 3/6. The notch 3 mutations were all found in exon 4. Although other several families shared similar phenotype of CADASIL, there were no deposition of granular osmiophilic materials within the basal lamina of smooth muscle cells in the arterioles of biopsied muscle and no mutations in the cording regions of notch 3 gene. We investigated prospectively the incidence of CADASIL and CADASIL-like disease in Kumamoto district from 1999 to 2000. One thousand and thirty four patients with stroke were hospitalized in 6 hospitals which have stroke care unit. Among them, 7 patients fulfilled the criteria that were less than 60 years old, lacunar strokes and/or TIA, presence of a family history, and no risk factors such as hypertension, diabetes mellitus, and hyperlipidemia. One of seven patients was diagnosed as CADASIL by DNA analysis. It was suspected the incidences of CADASIL and CADASIL-like disease were not so rare in Japan.
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PMID:[CADASIL: clinical analysis of CADASIL and CADASIL-like disorders in Japan]. 1146 69

Beta-adrenergic-blocking drugs (BABs) have a firm place in the therapy of cardiovascular conditions including angina and hypertension. Although all BABs are competitive inhibitors of beta-receptors, they may differ in their additional pharmacodynamics, i.e., beta1-(cardio)selectivity, partial agonistic activity (PAA), and pharmacokinetic properties. Understanding these additional properties would allow the physician to choose the more appropriate agent for some patients or for specific situations. beta1-Selective BABs may be of potential importance in patients with obstructive airway disease, peripheral vascular disease, and hyperlipidemia and in diabetic patients receiving antidiabetic drugs. These BABs may better control the increased blood pressure in response to hypoglycemia, exercise, or cigarette smoking. Nonselective BABs may be preferably used to decrease epinephrine-induced hypokalemia or to prevent myocardial infarction, and in certain circumstances (i.e., migraine, anxiety, thyrotoxicosis or essential tremor). BABs with PAA may theoretically cause a lesser degree of cardiodepression (reduction of heart rate at rest, cardiac output, and AV conduction), bronchospasm, and peripheral vasoconstriction and minor effects on plasma lipids. Withdrawal syndrome may be absent after BABs with PAA. The pharmacokinetic properties of the BABs such as absorption, bioavailability, elimination half-life, liver metabolization, interindividual variability, as well as pharmacological interactions depend on their hydrophilic/lipophilic ratio. The development of new BABs continues. It has been possible to incorporate into a drug molecule combinations of PAA, preferred beta1-blockade, and beta2-agonist activity. Even if these new agents cause less adverse effects (e.g., vasoconstriction, bronchospasm), their clinical significance remains to be established.
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PMID:Optimization of beta-blockers' pharmacology. 1152 10

2 cases of cerebrovascular complications of oral contraceptives (OCs) and results of a literature review are described in the hope of alerting other practitioners to the need for careful patient evaluation before OCs are prescribed. A 32 year old multipara with a 2 year history of Gynovlane use suffered a complete occlusion of the carotid artery, probably of embolic origin. A 20 year old mother of 1 child with a 1-year history of Gynovlane use was diagnosed as suffering an ischemic vascular accident in the area of the left ophthalmic artery. Cerebral vascular accidents appear to be rare in OC users; about 1 in 10,000 users on a worldwide basis is afflicted, but unfortunately about 5-10% are fatal. Women of any age may be affected, but the incidence increases in women over 35 years, whose mortality rate is 4 times greater. White women according to 1 author are more at risk than black women. All types of pills may be involved, but the risk appears to be partly a function of the presence and dosage of estrogen. Cerebrovascular accidents have become rare since the advent of lower dosed pills. The duration of pill use before the occurence of the accident varies, but venous thromboses appear to occur earlier than arterial accidents. Factors favoring occurrence of cerebrovascular accidents in women using pills depend on the type of accident. Age, smoking, hyperlipidemia, surgical interventions, and a history of migraines are implicated in arterial thromboses. Surgical interventions, prolonged immobility due to fracture, and preexisting venous conditions are implicated in venous thromboses. The severity of hormone-induced cerebrovascular accidents confers great importance on prevention. No test exists to identify women at highest risk, so that prevention requires careful screening of OC candidates for risk factors. Treatment of cerebrovascular accidents and their sequelae is usually based on anticoagulants and heparin. Systematic functional rehabilitation is necessary in cases of invalidism. Termination of OC use is necessary in all cases at the least sign of trouble.
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PMID:[Cerebrovascular complications of oral contraceptives. Review of the literature; report of 2 cases]. 1226 10

Various types of low-dose oral contraceptives are included in this panel discussion: continuous minidose progestagens, low-dose daily progesterone injections, low-dose daily progesterone injections and low-dose combined pills. A study on 6 subjects showed that continuous minidose progestagens (1 mg lynestrenol) usually cause a low plasma progestin level, elevated luteinizing hormone (LH), but occasionally abnormal progestin or LH peaks, and often intermenstrual spotting. Intrumascular progesterone, 5 mg/day from Cycle Days 7 to 23 produced spotting, low LH and follicle stimulating hormone, and flat temperature curve all indicating that progesterone itself can inhibit ovulation. A study on the fate of labeled norethisterone 1 and 24 hours after administration showed highest uptake in endometrium then plasma, myometrium, and fallopian tube. Reports on clinical trials with 150 mcg d-norgestrel and 30 mcg ethinyl-estradiol, and with 30 mcg ethinyl estradiol and 1 mcg norethisterone acetate in 67 women both produced 100 % efficacy and no side effects except spotting. Blood coagulation studies of antithrombin III were still abnormal in 15% of users of pills with 50 mcg estrogen, compared with 63% with 75-100 mcg pills and 6% in untreated controls. Questions were raised about metrorrhagia, how long to prescribe minipills without interruption, how to treat migraines occurring between cycles, pill management of diabetics, and whether the classical contraindicaitons should be observed with minidose pills. The speakers answered that little information is available about the new pil ls, but contraindicaitons, especially those related to thrombophlebitis and hyperlipidemia should still be observed.
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PMID:[Contribution of low doses in oral contraception]. 1227 56

The relative rarity of stroke in oral contraceptive (OC) users, estimated at 14/100,000 women per year, does not mean that the risk is not significant; it is 4 to 9 times as high for OC users as for controls. 86 well-documented cases of stroke in OC users treated at a neurologic clinic in Paris between 1974 and 1984 are analyzed. There were 5 groups of patients: 1) 66 cases of cerebrovascular accidents, 64 of which were ischemic 2) 6 cases of intracranial venous thrombosis 3) 6 cases of benign and reversible intracranial hypertension or cerebral pseudotumor without demonstrated venous thrombosis 4) 5 cases of vascular complications in the retina or optic nerve, and 5) a miscellaneous group of 5 cases. The patients were aged from 16-49 years and the mean age was 30.5 years. The duration of use of OCs varied from a few days to 15 years, with an average of 39 months. 42 to 56% had family histories of cerebrovascular problems and 40 to 50% had personal or familial histories of migraine. Among 79 OC users with strokes, 41% used moderate dosed and 59% used microdose pills. No patients used microdose progestin only pills. There were 2 peak age groups of patients, those 25-29 and 38-42 years old. Young women aged 25-29 had intracranial venous thrombosis, intracranial hypertension or pseudotumor, and acute ischemia of the optic nerve. The average age of the 64 patients with ischemic cerebral vascular accidents was 31 years. Of the 30 infarcts, 1/3 left significant sequelae and 3 were fatal. There were 21 transitory ischemic accidents and 13 prolonged reversible ischemic accidents usually without sequelae. There were warning signals in 52% of infarct cases. 45% of patients with cerebrovascular accidents had family histories of cerebrovascular accidents or cardiac infarct and 40 to 50% had personal or family histories of migraine. Fewer than 25% had hyperlipidemia, 20% smoked, and 8% had diabetes or a problem of glycoregulation. Coagulation changes were found in 6 of 64 patients, but 22 of 26 had immune complexes and anti-ethinyl estradiol or antiprogesterone antibodies. Among the 6 cases of intracranial venous thrombolic accidents there were 2 deaths and 2 cases of very serious sequelae. The average age of these patients was about 27. The role of OCs is difficult to confirm because there are too few cases for statistical analysis. Antihormone antibodies were found in 3 such cases studied, but coagulation problems were not observed. Patients in the study who had laboratoratory or angiographic evidence of atheromatous disorders mostly were in the older peak age groups. The younger patients with cerebral ischemic accidents were largely without atheromatous lesions, but were very likely to have antiestrogen or antiprogesterone antibodies.
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PMID:[Stroke and combined oral contraceptives]. 1228 Feb

Earlier and more frequent sexual activity and the significant risk of pregnancy have increased the need for contraception among young adolescent girls. The problem for the physician is to choose a contraceptive method which will not affect future fertility or the psychological and biological maturity of adolescents. Condoms, diaphragms, and spermicides are quite effective if used correctly; they have no deleterious side effects, and they provide protection against sexually transmitted diseases. They appear to be well-adapted to the sporadic sexual activity of adolescents. The efficacy of combined oral contraceptives (OCs) is also high. Side effects depend on the synthetic estrogen component and are dose dependent. Absolute contraindications to OC use in women of any age include thromboembolic disease, cerebral vascular accidents, severe cardiac or hepatic disorders, breast or genital cancer, pregnancy, undiagnosed genital bleeding, and pituitary adenoma. Relative contraindications include hypertension, diabetes, hyperlipidemia, obesity, history of hepatitis, migraines, epilepsy, asthma, renal insufficiency, cystic breast disease, and mammary fibroadenomas. Combined OCs do not seem to interfere with subsequent maturation of the hypothalamopituitary axis. The frequency of ovulatory cycles in adolescents who have discontinued pill use is the same as that in adolescents who have never used pills. However, estrogens accelerate the process of maturation in the bones, so combined OCs should never be prescribed for girls who have not terminated their growth. Minidose OCs containing 30-45 mcg of ethinyl estradiol aggravate the relative hyperestrogenism of adolescents and are associated with menstrual problems, functional ovarian cysts, and breast problems. They should only be prescribed for adolescents with regular sexual activity, no less than 3 years following menarche, with regular ovulatory menstrual cycles and no history of breast disorders. Otherwise, a standard-dose combined pill with 50 mcg EE should be selected. Continuous dose progestin minipills depend on peripheral effects such as modifications in the cervical mucus for their contraceptive effects. They are associated with frequent menstrual problems, functional ovarian cysts, and extrauterine pregnancies. They may be indicated for adolescents with regular sexual activity but with contraindications to combined OCs. Trimonthly injections of medroxyprogesterone acetate have major effects on endocrine metabolism and should be used only for adolescents with severe mental problems. IUD efficacy is high but they may be less well tolerated by adolescents than by older women and the risk of infection may be heightened. They should only be used for adolescents with absolute contraindications to use of hormonal contraceptives who have no history of genital infections.
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PMID:[Choosing contraception for adolescents]. 1228 May 85

This is the discussion after a presentation by E. BAULIEU on combined oral contraceptives (ibid; 4(4)1972); it emphasized tumors, blood lipids, and management of typical problems with the pill. It was agreed that the pill does not cause breast cancer, despite the nodules reported in Beagles, but the discussants came to no concensus on the possibility of ovarian cysts and pituitary adenoma. DE GENNES described his 33 cases of vascular accidents in pill users of whom 24 had hyperlipidemia, usually (80%) of the "mixed" type 3 (i.e. high cholesterol and triglycerides). About 2% of women have abnormal plasma lipids, defined as total lipids over 9 g/1, triglycerides over 1.35 g/1, cholesterol over 2.7 g/1. Among the 33 cases, pure hypercholesteremia was underrepresented; premonitory signs (usually migraine) were only present in some cases of cerebrovascular accident, not in cardiac infarction or pulmonary embolism; the parous women had had no trouble in pregnancy. Other topics discussed included diabetes, glucose tolerance tests, hypertension, amenorrhea, menopause, and whether and when to interrupt oral contraception. The conference was concluded with a summary of the status of French legislation on contraception. The French Assembly had not authorized funds for family planning centers, nor for a national office of information, because they considered France too underdeveloped for such an antinatalist policy.
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PMID:[Combined oral contraceptives]. 1230 30

We reviewed 12 patients from 11 Japanese families diagnosed as having CADASIL from 1998 to 2001. The age of onset of focal neurologic deficits ranged from 38 to 71 years (mean: 50.4 +/- 9.8 years). Japanese CADASIL patients rarely had migraine and frequently presented with symptoms of dementia at diagnosis. Notch3 mutations were concentrated in exons 3, 4, and 5. Cysteine was replaced by another amino acid or vice versa in the majority of Japanese CADASIL patients. However, in 2 families, the mutations were not related to cysteine. In the prospective study, 2030 patients with stroke were hospitalized in 6 hospitals with stroke units in the Kumamoto district from 1999 to 2001. Among them, 14 patients fulfilled the criteria of being less than 60 years of age, showing lacunar strokes and/or TIA, presence of a family history, and no risk factors of stroke. One of these 14 patients was diagnosed as having CADASIL by DNA analysis. However, if hyperlipidemia was excluded from the list, 16 patients fulfilled the criteria and 2 patients were diagnosed as having CADASIL by DNA analysis. It was suspected that the incidence of CADASIL is not so rare in Japan. There were some families with CADASIL-like features, but without Notch3 mutations or GOM, suggesting the need for genetic analysis in the future.
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PMID:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan. 1248 Jul 61

White matter lesions (WML) are commonly seen in cerebral MR imaging in normal and demented elderly people or young people suffering from migraine. We present data showing that WML are detected in an unexpectedly high frequency (56.9%) in patients with non-traumatic osteonecrosis of the femoral head compared to age and sex-matched controls. We designated the coexistence of WML and osteonecrosis as white matter lesions in osteonecrosis (WMLeON). We examined the possible association of WMLeON with hyperlipidaemia and other risk factors for WML or osteonecrosis of the femoral head. The frequency of history of corticosteroid treatment was statistically lower in patients with WMLeON (58.6%) compared to those without it (90.1%) (P = 0.03). We found no association of WMLeON with diabetes, stroke, hyperlipidaemia, migraine, smoking, alcohol consumption, hypertension, atrial fibrillation, or systemic lupus erythematosus. Although, the clinical significance of WMLeON is still unknown, this finding supports, at least, the hypothesis that non-traumatic osteonecrosis is indeed a multisystem disorder rather than a disease of human skeleton.
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PMID:Increased frequency of white matter lesions in patients with osteonecrosis (WMLeOn) of the femoral head. 1514 88

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetically transmitted cerebrovascular disease. Typically, the first clinical manifestation is migraine and the full clinical spectrum of the disease with recurrent strokes of the subcortical type, cognitive, and mood disorders is seen during the fourth and fifth decades of life. Vascular risk factors are usually absent in CADASIL patients and the diagnosis of the disease is particularly suspected in young adults with cerebrovascular events of unknown cause, diffuse leukoencephalopathy on computed tomography or magnetic resonance imaging, and a history of cerebrovascular diseases or dementia in many family members. We describe three Italian CADASIL patients who presented to medical attention for cerebrovascular events occurred after the age of 55 and had, in addition to hypertension and hyperlipidemia, thrombophilic risk factors such as hyperhomocysteinemia, elevated levels of lipoprotein(a), and antiphospholipid antibodies. Symptoms possibly related to cortical involvement, such as dysphasia and visual field deficits, were reported by two of these patients. We conclude that a diagnosis of CADASIL should not be disregarded in patients with vascular risk factors and presenting with symptoms not immediately referable to subcortical damage at ages more advanced than commonly reported.
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PMID:Thrombophilic risk factors and unusual clinical features in three Italian CADASIL patients. 1552 1


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