Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Definitions are offered for the concepts of sterility and infertility. The notion of infertility is expanded to cover not only habitual abortions (three or more miscarriages) but, as well, deliveries of defective children. --Five-hundred and fifty-five pregnancies so far have occurred to 240 infertile probands, among them 78 with habitual abortions and 162 with damaged children. Only one in ten of those pregnancies resulted in clinically intact live birth. --Abortion was the result of 95 per cent of all pregnancies of the women with habitual abortion. The same applied to 25 per cent of all pregnancies of the above women with defective children (e.g. Down's syndrome, neural tube defects, diaphragmatic hernia, hydrocephalus, and progressive muscular dystrophy). A damaged child was born in more than 50 per cent of the latter pregnancy cases. --The number of children born by 162 women has been 181, with only 96 of them alive. The causality relationship between abortion and birth of defective children is discussed. --Infertile women should be given special attention, before conception takes place, and they should be kept under intensive care to the end of pregnancy.
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PMID:[Infertility--a risk factor in obstetrics (author's transl)]. 53 55

The early interest in selenium related primarily to its toxicity, but since 1957 the element has been recognized as a dietary essential. The dietary requirement for selenium by most species is about .1 ppm. Deficiencies of selenium in cattle and sheep have been confirmed under natural grazing conditions in many countries of the world. Overt signs of inadequacy such as white muscle disease (nutritional muscular dystrophy) occur primarily in young calves or lambs born to selenium deficient dams. Infertility has increased in ewes grazing pastures low in selenium. In general, signs of deficiency have not occurred in older animals such as finishing beef cattle and lactating dairy cows. Subclinical deficiencies of selenium are not determined easily, however, and thus an inadequacy of the element may be limiting maximum animal performance under certain circumstances of drylot feeding. The current nutritional status of ruminant animals in many geographical areas and involving various feeding programs with this element has not been established. The recent widespread deficiency problems with nonruminants suggest that such an assessment should be made. Concentration of selenium in tissue, particularly in the liver, has been used in establishing selenium status of the animal. With lambs glutathione peroxidase activity in certain tissues may be a more accurate indicator of selenium adequacy than is selenium content of the tissue. Supplemental sodium selenite and sodium selenate by either oral administration or parenteral injection have prevented clinical signs of selenium deficiency and animal losses in both ruminant and nonruminant animals. Heavy pellets containing elemental selenium for placement in the rumen have proved effective. In general, organic forms of selenium are absorbed more readily by animals than are inorganic compounds. The dietary requirements for selenium and its metabolism are influenced by many nutrient interrelationships, including its interactions with sulfur, lipids, vitamin E, proteins, amino acids, and several microelements. The Food and Drug Administration gave approval in 1974 for the oral administration of supplemental selenium as either sodium selenite or sodium selenate to certain classes of swine and poultry. Similar approval in the United States for ruminants will require additional information, particularly with regard to the influence of dietary intake on concentrations of selenium in tissue and milk in beef and dairy animals.
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PMID:Selenium in ruminant nutrition: a review. 110 75

Selenium is a vestigial element indispensable for man and animal, having adverse effects when in bigger quantities. Among the diseases resulting from selenium deficiency in animals the most important are nutritional muscular dystrophy, exudative disthesis (most common in poultry), and nutritional hepatic dystrophy. In the man chronic intoxication occurs most of all, which is observed in selenium bearing regions. Taking into consideration geographic distribution on some of the diseases beneficial influence of selenium is observed in cardiac and vascular diseases, and hypertension. The correlation between selenium deficiency and mortality caused by neoplasm is also notable. It is unquestionable that selenium inhibits the activity of enzymes, especially those containing sulfohydryl groups. The stabilization of lysosomal membranes leads to the presumption that selenium prevents peroxidation processes in tissues and cell membranes. The influence of selenium on reproduction is also worth noticing. Its supply turns out to be effective in cases of infertility of sheep, and partly in rats, pigs, and poultry. The embryo dies in pigs fed on fodder poor in selenium and vitamin E. The degeneration of the ovaries and placenta accretion occur in cows in cases of selenium deficiency. The excess of selenium can affect negatively the reproductive system. The element is thought to be a teratogenic agent. Since it permeates through the placenta and lactic gland easily, the symptoms of selenosis appear in new-born animals; many of them have developmental anomalies occurring at the same time. In birds the decrease in laying eggs and their incubation occur in case of selenium deficiency.
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PMID:The influence of selenium on the reproduction of rats. 136 82

Ferlins are a family of multiple C2 domain proteins with emerging roles in vesicle fusion and membrane trafficking. Ferlin mutations are associated with muscular dystrophy (dysferlin) and deafness (otoferlin) in humans, and infertility in Caenorhabditis elegans (Fer-1) and Drosophila (misfire), demonstrating their importance for normal cellular functioning. Ferlins show ancient origins in eukaryotic evolution and are detected in all eukaryotic kingdoms, including unicellular eukaryotes and apicomplexian protists, suggesting origins in a common ancestor predating eukaryotic evolutionary branching. The characteristic feature of the ferlin family is their multiple tandem cytosolic C2 domains (five to seven C2 domains), the most of any protein family, and an extremely rare feature amongst eukaryotic proteins. Ferlins also bear a unique nested DysF domain and small conserved 60-70 residue ferlin-specific sequences (Fer domains). Ferlins segregate into two subtypes based on the presence (type I ferlin) or absence (type II ferlin) of the DysF and FerA domains. Ferlins have diverse tissue-specific and developmental expression patterns, with ferlin animal models united by pathologies arising from defects in vesicle fusion. Consistent with their proposed role in vesicle trafficking, ferlin interaction partners include cytoskeletal motors, other vesicle-associated trafficking proteins and transmembrane receptors or channels. Herein we summarize the research history of the ferlins, an intriguing family of structurally conserved proteins with a preserved ancestral function as regulators of vesicle fusion and receptor trafficking.
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PMID:Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair. 2183 46

Blood mononuclear cells consist of T cells and monocyte derived cells. Beside immunity, the blood mononuclear cells belong to the complex tissue control system (TCS), where they exhibit morphostatic function by stimulating proliferation of tissue stem cells followed by cellular differentiation, that is stopped after attaining the proper functional stage, which differs among various tissue types. Therefore, the term immune and morphostatic system (IMS) should be implied. The TCS-mediated morphostasis also consists of vascular pericytes controlled by autonomic innervation, which is regulating the quantity of distinct tissues in vivo. Lack of proper differentiation of tissue cells by TCS causes either tissue underdevelopment, e.g., muscular dystrophy, or degenerative functional failures, e.g., type 1 diabetes and age-associated diseases. With the gradual IMS regression after 35 years of age the gonadal infertility develops, followed by a growing incidence of age-associated diseases and cancers. Without restoring an altered TCS function in a degenerative disease, the implantation of tissue-specific stem cells alone by regenerative medicine can not be successful. Transfused young blood could temporarily restore fertility to enable parenthood. The young blood could also temporarily alleviate aging diseases, and this can be extended by substances inducing IMS regeneration, like the honey bee propolis. The local and/or systemic use of honey bee propolis stopped hair and teeth loss, regressed varicose veins, improved altered hearing, and lowered high blood pressure and sugar levels. Complete regression of stage IV ovarian cancer with liver metastases after a simple elaborated immunotherapy is also reported.
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PMID:Involvement of blood mononuclear cells in the infertility, age-associated diseases and cancer treatment. 2807 24

The comparative biology of reproduction and development in mammalian species is remarkable. Hence, because of similarities in environmental and neuroendocrine control of the reproductive axis, the cyclic function of the ovary and reproductive tract, establishment and control of the maternal-fetal-placental unit during pregnancy, and reproductive aging from puberty through menopause, nonhuman primates (NHPs) are valuable models for research related to women's reproductive health and its disorders. This chapter provides examples of research over the past 10+ years using Old World monkeys (notably macaque species), baboons, and to a lesser extent New World monkeys (especially marmosets) that contributed to our understanding of the etiology and therapies or prevention of: (1) ovarian disorders, e.g., polycystic ovary syndrome, mitochondrial DNA-based diseases from the oocyte; (2) uterine disorders, for example, endometriosis and uterine transplantation; and (3) pregnancy disorders, for example, preterm labor and delivery, environmental factors. Also, emerging opportunities such as viral (e.g., Zika) induced fetal defects and germline genomic editing to generate valuable primate models of human diseases (e.g., Huntington and muscular dystrophy) are addressed. Although the high costs, specialized resources, and ethical debate challenge the use of primates in biomedical research, their inclusion in fertility and infertility research is vital for continued improvements in women's reproductive health.
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PMID:Nonhuman Primates: A Vital Model for Basic and Applied Research on Female Reproduction, Prenatal Development, and Women's Health. 2898 18