Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During the last 30 years the Frambu Health Centre has evolved from a summer-camp site for children with poliomyelitis to a modern information and treatment Centre for families with disabled members. Since 1976, fortnightly courses have been held for an increasing number of patients with rare, often congenital and/or hereditary disorders (anorectal anomalies, bladder extrophy, congenital heart defects, cystic fibrosis, severe diabetes, hemophilia, hip joint defects, juvenile rheumatoid arthritis, minimal brain dysfunction, muscular dystrophy, phenylketonuria, psychosis/autism, spina bifida, Huntington's chorea, osteogenesis imperfecta, retitinitis pigmentosa, a. o.). This article describes the facilities, operation, financing and staff at Frambu. An outline of the course programme is given. The contents of two research projects carried out at Frambu are described. When families with rare disorders meet for the first time, new perspectives open up. Exchange of experience and feelings, establishing lay organizations, collating and distributing information to professionals and families are some of the important results of the Frambu courses.
 ...
PMID:Frambu Health Centre: promoting family focused care for disabled children. 622 40

Of particular importance in teratogenesis is the time of exposure to the offending environmental agent, route of exposure, and genotype of the embryo and the mother. The major teratogens include irradiation, maternal infections, other illnesses in pregnancy (diabetes, thyroid disease, maternal phenylketonuria, virilizing diseases), a host of pharmacologic agents and environmental contaminants. Teratogen exposure carries the potential for cancer in later life. Several sources of information on teratogens are now available.
 ...
PMID:Clinical teratology. 665 Mar 32

Mellituria was studied in 83 subjects: 25 normal adults and children and 58 patients with several metabolic diseases. In comparison to the controls, no significant differences were found in 9 patients with cystinuria and in 2 patients with Apert's syndrome. The large excretion of glucose was the only important pattern of the 11 patients with insulin-dependent diabetes. In 23 patients with porphyria cutanea tarda a statistically significant increase in the excretion of pentose was observed. In 16 children with the classical form of phenylketonuria, a significant hypoexcretion of glucose was found. This latter observation could be explained by the carbohydrate metabolic alterations described in experimental hyperphenylalaninemia.
 ...
PMID:Mellituria screening in some metabolic diseases. 685 89

One of the most rewarding examples for teaching hereditary metabolic disorders is classical phenylketonuria (PKU) caused by the deficient function of phenylalanine hydroxylase, the locus of which (PAH) is on the long arm of the twelfth chromosome. The twelfth chromosome has also the locus (VWF, F8VWF) the pathogenic alleles of which cause impaired blood clotting--Willebrand's disease and it is at the same time also the site of the family of keratin genes (KRT) responsible for epidermolysis bullosa simplex and other diseases. The question of the relationship between membrane glucose transmitters--GLUT and diabetes (NIDDM) is the subject of many investigations concerned with these loci.
 ...
PMID:[The human genome--chromosome 12]. 755 42

During intrauterine life the health conditions of the fetus are closely related to those of the mother. Hence, maternal diseases and especially endocrine-metabolic unbalances may have a negative impact on the fetus. Major maternal pathologies include: diabetes, hyperthyroidism, hypothyroidism, phenylketonuria, lupus erythematosus, epilepsy and antiepileptic drugs.
 ...
PMID:Maternal diseases and congenital malformations. 812 74

Progress in the management of medical disorders of pregnancy has occurred in many areas. Only salient features are reviewed. The pathophysiology of maternal hyperglycemia in diabetes and its effects on the fetus are explored. Antiphospholipid antibodies, implicated in adverse pregnancy sequelae, come under closer scrutiny in terms of management and correlation with outcome. Studies defining a need for a strict diet for optimal neonatal outcome are presented regarding maternal phenylketonuria. Coagulopathies including protein C deficiency and deep venous thrombosis are reviewed for their impact on pregnancy. Uncommon disorders including cerebrovascular accidents, ureteric obstruction, and myocardial infarction are discussed in relation to management and outcome in pregnancy.
 ...
PMID:Maternal disease and injury in pregnancy. 842 32

It has been a long established principle in the treatment of diabetes that the patient or his/her family is responsible for day-to-day monitoring of metabolic control. It is believed that this concept should also now be applied in phenylketonuria. At present, self-monitoring of blood phenylalanine still requires assaying the phenylalanine concentration in capillary blood obtained by finger-stick sampling at home, via mailing to a nearby laboratory. Frequently and rapidly obtained data can guide the patient to adjust dietary phenylalanine intake, provided he and his family have been informed in detail about the disease and trained in practical diet competence. Teaching programmes for patients are to be promoted. A home-monitoring device for blood phenylalanine is at the development stage.
 ...
PMID:Towards self-monitoring and self-treatment in phenylketonuria--a way to better diet compliance. 882 23

The dopamine (DA) neurons projecting to the prefrontal cortex (PFC) are thought to be involved in working memory, stress response, and the pathogenesis of schizophrenia. In this commentary, we review the current evidence supporting a precursor tyrosine dependence of these mesoprefrondal DN neurons. Several studies in rats employing different experimental paradigms [i.e. experimental diabetes and early-treated phenylketonuria (PKU) model] have shown that reduced tyrosine levels in brain can affect markedly the physiology and functions of these DA neurons. However, supplemental tyrosine is effective in enhancing functional transmitter outflow from mesoprefrontal DA neurons only under conditions where their physiological activity is enhanced and DA synthesis and release are uncoupled from intrinsic regulatory controls. Recent studies in humans have also suggested that variations in brain tyrosine levels can affect significantly higher cortical functions subserved by the PFC. In early-treated PKU patients with mildly reduced tyrosine levels, marked impairments in cognitive functions dependent on the dorsolateral PFC could be detected. In drug-treated schizophrenic patients, supplemental tyrosine was shown to have a disruptive effects on the smooth-pursuit eye movement performance task. Furthermore, tyrosine administration was effective in restoring impaired working memory in humans following cold stress paradigm, as assessed by a computer-based delayed matching to-sample memory task. These human studies, together with the current evidence obtained from animal experiments, suggest that the functions of the mesoprefrontal DA neurons can, under certain circumstances, be readily influenced by the availability of the precursor tyrosine.
 ...
PMID:Mesoprefrontal dopaminergic neurons: can tyrosine availability influence their functions? 910 94

The most common use of artificial cells is for bioencapsulation of biologically active materials. Each artificial cell can contain combinations of materials. The permeability, composition and shape of an artificial cell membrane can be varied using different types of synthetic or biological materials. These possible variations in contents and membranes allow for large variations in the properties and functions of artificial cells. Artificial cells containing adsorbents have been a routine form of treatment in hemoperfusion for patients. This includes acute poisoning, high blood aluminum and iron, and supplement to dialysis in kidney failure. Artificial red blood cell substitutes based on modified hemoglobin are already in Phase I and Phase II clinical trials in patients. Artificial cell encapsulated cell cultures are being studied for the treatment of diabetes, liver failure, gene therapy and other conditions. Research on artificial cells containing enzymes includes their use for treatment in hereditary enzyme deficiency diseases and other diseases. Recent demonstration of extensive enterorecirculation of amino acids in the intestine has allowed oral administration to deplete specific amino acids. One example is phenylketonuria, an inborn error or metabolism resulting in high systemic phenylalanine levels. Preliminary clinical studies in patients using bioencapsulation of cells or enzymes have started. Artificial cells containing complex enzyme systems convert wastes like urea and ammonia into essential amino acids. Artificial cells are being used for the production of monoclonal antibodies, interferon and other biotechnological products. Other areas of biotechnological uses include drug delivery, and other areas of biotechnology, chemical engineering and medicine.
 ...
PMID:Artificial cells with emphasis on bioencapsulation in biotechnology. 970 91

Genetic screening, gene therapy and other applications of genetic engineering are permissible in Judaism when used for the treatment, cure, or prevention of disease. Such genetic manipulation is not considered to be a violation of God's natural law, but a legitimate implementation of the biblical mandate to heal. If Tay-Sachs disease, diabetes, hemophilia, cystic fibrosis, Huntington's disease or other genetic diseases can be cured or prevented by "gene surgery," then it is certainly permitted in Jewish law. Genetic premarital screening is encouraged in Judaism for the purpose of discouraging at-risk marriages for a fatal illness such as Tay-Sachs disease. Neonatal screening for treatable conditions such as phenylketonuria is certainly desirable and perhaps required in Jewish law. Preimplantation screening and the implantation of only "healthy" zygotes into the mother's womb to prevent the birth of an affected child are probably sanctioned in Jewish law. Whether or not these assisted reproduction techniques may be used to choose the sex of one's offspring, to prevent the birth of a child with a sex-linked disease such as hemophilia, has not yet been ruled on by modern rabbinic decisions. Prenatal screening with the specific intent of aborting an affected fetus is not allowed according to most rabbinic authorities, although a minority view permits it "for great need." Not to have children if both parents are carriers of genetic diseases such as Tay-Sachs is not a Jewish option. Preimplantation screening is preferable. All screening test results must remain confidential. Judaism does not permit the alteration or manipulation of physical traits and characteristics such as height, eye and hair color, facial features and the like, when such change provides no useful benefit to mankind. On the other hand, it is permissible to clone organisms and microorganisms to facilitate the production of insulin, growth hormone, and other agents intended to benefit mankind and to cure and treat diseases.
 ...
PMID:Judaism, genetic screening and genetic therapy. 984 72


<< Previous 1 2 3 4 5 Next >>