Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis.
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Abnormalities, Multiple↗
Biomedical subjects
P M da Silva
Publications and source records attributed to P M da Silva.
[HMG-CoA reductase inhibitors: a brief review of their pharmacological properties and clinical efficacy in cardiovascular disease].
The results of recently published studies on primary and secondary prevention of coronary heart disease with HMG-CoA reductase inhibitors--statins--support their use in patients with primary hypercholesterolaemia or mixed hyperlipidaemia, with or without atherosclerotic vascular disease. From a pharmacological point of view, statins inhibit HMG-CoA reductase, reduce the endogenous synthesis of cholesterol and increase the apoB/apoE lipoprotein clearance from plasma. Recent studies confirm that HMG-CoA reductase inhibitors may also decrease hepatic production of VLDL and LDL-cholesterol. However, they have different pharmacokinetic properties and variable effectiveness with potential clinical implications. These drugs are generally well tolerated with a similar profile of adverse effects (gastrointestinal effects, hepatic dysfunction and myopathy). The knowledge of their pharmacodynamic and pharmacokinetic properties can lead to a rational use and greater understanding of their potential benefits.
Cerebrovascular Disorders↗
[Biological and practical aspects of hormone replacement therapy: an approach to cardiovascular disease prevention in postmenopausal women].
Epidemiological and experimental clinical studies as well as basic laboratory research suggest that estrogen replacement therapy reduces the cardiovascular risk in postmenopausal women. Estrogens have different potential favourable effects (which remain to be fully proven in randomised clinical trials) on lipid metabolism, vascular endothelium and fibrinolysis. The molecular mechanisms adjacent to the vasodilator effects of estrogens have not yet been clearly defined, but many of the processes have already been characterised. Progestagens should be added to the estrogen therapy in women with an intact uterus in cyclic or continuous regimens, although the effects of progestagens on these processes (lipid metabolism and vascular function) are still being discussed. In an attempt to optimise and improve hormone replacement therapy compliance in postmenopausal women, we discuss the risks and benefits of this treatment according to the best available evidence. This evidence should help women decide which type of therapy is the most appropriate for them.
Cardiovascular Diseases↗
[Pharmacokinetic and pharmacodynamic aspects of angiotensin II antagonists. Focus on arterial hypertension].
The major pharmacokinetic and pharmacodynamic properties of angiotensin II receptor antagonists in humans are reviewed, this analysis being focused on its antihypertensive effect. Common characteristics of the members of this new therapeutic class: nonpeptidic nature, lipophilia, oral intermediate bioavailability and selectivity for AT1 receptor are discussed. The liver metabolism and the presence of active metabolites of some of these molecules are specially stressed. Angiotensin II antagonists block the blood pressure response to angiotensin II, reduce the high baseline blood pressure in hypertensive patients, increase the plasma renin activity and endogenous angiotensin II plasma levels, have natriuretic effects and increase the renal blood flow without altering the glomerular filtration rate. These and other dose-dependent effects of angiotensin II receptor antagonists are discussed and criticized, in an attempt to characterize their pharmacokinetic profile and to define the pharmacodynamic relation able to support its therapeutical use.
Angiotensin II↗
[Sheehan's syndrome].
The authors describe a case of Sheehan's syndrome that followed hemorrhagic complications due to late abortion, and emphasise the infrequency of changes in plasma lipid levels in this disease. They report a particular case of hypopituitarism and point out the main concepts of pathophysiology, diagnosis, therapeutics and complications that follow this increasingly rarer condition.
Abdominal Pain↗
[Primary pulmonary hypertension].
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Humans↗
[Nonalcoholic steatohepatitis].
The authors present a case of a nonalcoholic steatohepatitis, with progression to liver cirrhosis in an obese female patient. A review of the literature, possible evolution, and principle pathological processes involved is made. Attention is drawn to obesity as a risk factor in the progression of steatohepatitis and the advantage of performing liver biopsies in selected cases as a fundamental technique of diagnosis.
Biopsy↗
[Somatostatin and SMS 201-995 (octreotide): clinical and therapeutic aspects].
Nowadays, the digestive system, must be considered as an actual endocrinous gland. The authors, after pointing out the pharmacological and immunomodulating actions of endogenous somatostatine, briefly describe a new synthetic octapeptid, somatostatine-analogue, with similar pharmacological effects (octreotide). Finally they stress the therapeutic trials in which the adverse effects, dosage and administration have been studied.
Humans↗
[Biological rhythms in man. Particular aspects in medicine].
The concepts of chronobiology and chronopharmacology have become more and more important in medical practice nowadays. Today, the circadian variation in blood pressure and heart rate as well as in the occurrence of acute cardiovascular disease is quite obvious (ischemia, infarction, stroke and sudden death). However, biological rhythms are also present in episodes of dyspnoea in nocturnal asthma, in hormonal pulses, in the organization of the immunological system and in the processes of cellular proliferation. These acknowledgments have been leading to changes in our therapeutical approaches implying the definition of correct anti-hypertensive and anti-ischemic strategy was well as in the use of xanthins, corticosteroids, immunomodulators and cytostatics.
Biological Clocks↗
[The genetic contribution to coronary disease. The genetic factors related to lipid metabolism].
The increasing development of molecular genetics, the progress of the Human Genome Project, and the widespread application of its new methods and molecular techniques provide a new perception of coronary heart disease and a better recognition of genetic markers (mutations and polymorphism) related to new or traditional cardiovascular risk factors. An example of this has been the major effort made over the last years to evaluate and establish the genetic molecular mechanisms that are the basis of the synthesis of apolipoproteins, lipoprotein processing enzymes and lipoprotein receptors. These are some of the subjects discussed in this review [apoB, apoE, atherogenic lipid profile and CETP, and Lp(a)], in which the role of polymorphic alleles and isoforms in cardiovascular risk and coronary heart disease is stressed.
Apolipoproteins↗
[Dystrophia myotonica].
The authors present two cases of myotonic dystrophy (Steinert's disease) with cardiac involvement in young adults. They point out the rareness of this disease, the multisystemic involvement and also the diagnostic problems in the absence of the classic clinical picture.
Adult↗