Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Our current methods of contraception were largely developed in the 1950s and 1960s. Collectively these methods can limit population growth, although their acceptability at a personal level remains marginal. The number of abortions in the UK has risen progressively, from < 130,000 in 1980 to > 170,000 in 1990, and more people have sought sterilization. In global terms, population continues to increase on a scale unrecorded in human history. More than 800 million people, equal to the current population of North America, Europe and Japan, will be added to the world population of 5400 million by the year 2000, with 95% of the increase located in the economically and environmentally fragile regions of the South. Worldwide, in these 8 years, about 500 million abortions will be performed (> 40% by unsafe methods), about 80 million children under 1 year of age will die, and about 5 million women with be lost from pregnancy-related causes. Over 100 million people, most in Africa, Latin America, India and South-east Asia, will have become infected with human immunodeficiency virus. Religious, commercial and political pressures continue to constrain the development and distribution of contraceptive products, though some changes are in sight. Contraception is now being advanced in the broader context of neonatal and maternal health care. New scientific opportunities are also evident, with the potential to advance contraception in a quantal step. Third generation contraceptive steroids, anti-steroids, steroid-releasing vaginal rings, and injectable steroid preparations for men are all under clinical trial. Developments in the longer term, however, could hinge upon the greater specificity afforded by the manipulation of regulatory peptides. Agonists, antagonists and binding proteins for GnRH and the gonadotrophins are being investigated in an attempt to regulate the pituitary-gonadal axis more precisely. Inhibition of this axis may require the provision of low level steroid replacement, appropriately titrated to provide positive health care in the context of menstrual cyclicity, well-being, breast cancer and osteoporosis. Attempts are being made to identify and intercept the highly specific signals involved in fertilization and the maternal recognition of pregnancy, with the current clinical focus on the immunoneutralization of beta human chorionic gonadotrophin (beta hCG). More specific and more acceptable targets might include peptides involved in sperm-zona adhesion and sperm activation, sperm-oocyte fusion, and sperm-activated oocyte cleavage. The interception of these signals would prevent fertilization, implantation or both, and yet leave the hormonal profile of the menstrual cycle unchanged.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Human contraception: development of new scientific opportunities. 130 30

There are several lines of evidence which provide support for an important relationship between immune cells and bone. Clinical studies of immunodeficiency syndromes have shown that abnormalities in bone shape are evident on x-rays, and peculiarities in the structure of the growth plate have been identified by histopathology. Studies of bone histology, and quantitation of cellular abnormalities, are scarce. Abnormalities in bone turnover, have, however, been identified in the nude mouse model. Many lines of evidence derived from in vitro bone studies have shown that lymphokines and monokines can influence bone formation and bone resorption. Some clinical studies of postmenopausal osteoporosis have indicated the possible presence of immune cell changes in this condition. Although several hypotheses have been formed regarding the exact mechanisms of the effect of immune cytokine on bone, this is clearly a very large area of study and there is a need for additional carefully controlled experiments with special emphasis on bone cells and bone matrix, especially in the human. As knowledge progresses regarding immunology and hematology, a clearer understanding of the lineages of the osteoblast and osteoclast will emerge and we will better understand how specialized bone cells interact with and react to their immune cell neighbors in the bone marrow and to immune system signals. These findings will have especially important implications for the local bone loss seen in rheumatoid arthritis, periodontal disease, and chronic osteomyelitis.
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PMID:Bone and the immune system. 206 16

We report a case of Burkitt's lymphoma developing in a 7-year-old boy with hyper-IgE syndrome. This is the third reported case of malignancy in the hyper-IgE syndrome. The other two cases were an 18-year-old man with Hodgkin's disease and a 10-year-old girl with histiocytic lymphoma. The patient developed retroperitoneal Burkitt's lymphoma with probable metastasis to the brain. His short life was characterized by recurrent staphylococcal skin, middle ear, and lung infections associated with extremely elevated serum concentrations of IgE. There was also an associated disturbance of bone metabolism with osteoporosis and pathologic fractures and absence of parathormone, findings that have been observed in other patients with hyper-IgE syndrome and other forms of T cell immunodeficiency. At the age of 5 years, inadequate B cell responses to immunization with antigens derived from diphtheria, tetanus, and Haemophilus influenzae type b organisms and with the OX174 bacteriophage were demonstrated in the patient. In his terminal state his in vitro lymphocyte analysis demonstrated findings of anergy. Although the precise immunologic defect in hyper-IgE syndrome is unknown, these cases of associated malignancy stress the role that a completely normal immune system plays in preventing the premature appearance of cancer.
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PMID:Burkitt's lymphoma developing in a 7-year-old boy with hyper-IgE syndrome. 278 97

Hyperimmunoglobulinemia E (Job or Buckley) syndrome is an immunodeficiency disease associated with recurrent pyogenic infections, chronic eczematoid dermatitis, and mucocutaneous candidiasis. Association of this condition with osteoporosis and recurrent fractures is presented by a case report and by review of other reports describing similar findings. Other immunodeficiency syndromes with associated skeletal abnormalities are discussed.
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PMID:Hyperimmunoglobulinemia E syndrome: association with osteoporosis and recurrent fractures. 401 97

During the last decade there were extensive investigations in clinical and molecular andrology with emphasis on assisted reproduction, micromanipulation techniques of gametes, sperm/egg interaction, male contraception, diabetes mellitus, varicocele, andropause versus menopause, sexual dysfunction, associated hypertension/stress, prostatic carcinoma and molecular parameters of male reproduction. Sperm hyperactivation is a required step in capacitation sequence. Sperm motility is measured by videotape to evaluate the Straight Line Velocity (microm/s) (VSLI). Fertilization/embryonic development results from single sperm transfer (S-MIST) and multiple sperm transfer. Fertilization/embryo development is achieved by injection of immotile sperm into the perivitelline space. To assess sperm viability, a supravital stain suitable for use in combination with immunofluorescent assay, Hoeschst 33258, is used. The dye fluoresces with an intense blue when bound to DNA. To assess sperm plasma membrane integrity, a hypo-osmotic swelling test (HOST) is performed, using fluoresceinated D-mannose enriched albumin (FITC-DMA). The ability of sperm to swell under hypo-osmotic conditions indicates an intact membrane. A human protein, C-peptide, thought to be a useless byproduct of insulin may protect against devastating heart and nerve damage that diabetes causes. Human diabetics may benefit from the substance. Over 15 million Americans have diabetes, in which blood sugar levels rise out of control. There are two types of diabetics: Type I diabetics produce no insulin, the hormone that regulates blood sugar. Type II diabetics are unable to use their insulin properly. Diabetics are at great risk of heart disease and nerve damage, as arteries throughout the body leak and nerve-cell impulses fail. C-peptide is a byproduct of insulin production; it can be produced by the body or synthetically. Production of this protein is not induced by insulin, so diabetics who take insulin do not get C-peptide with it. Varicocele occurs unilaterally on the left side in 78% to 93% of men. Typically the presence of a varicocele is associated with an abnormal semen analysis (sperm density and morphology) and a decreased testicular volume on the affected side. Impaired sperm motility occurs in 89.5% of all varicocele patients. Varicocele ligation improves semen parameters in two thirds of patients. A few studies on andropause included sexual dysfunction, hormonal changes, medical/psychological correlates of impotence, ostenopenia/osteoporosis and bone loss; indices of bone remodeling, testosterone supplementation, androgen, negative feedback and hypothalamo-pituitary-testicular axis. Prostatic cancer is the second leading cause of cancer death for men between the ages of 60 and 80. Early detection involves a simple blood test for prostate specific antigen (PSA). Regular screening and early detection are essential. This is an important test because a high antigen count can be the only symptom. Since no screening is 100% accurate, physicians recommend both a PSA blood test and a physical examination. Although heredity plays a major role in whether a man will develop prostate cancer, men who lead healthy lives can dramatically reduce their chances of cancer: low-fat diet, eating plenty of fruits and vegetables and not smoking. Recent advances in molecular andrology include peptide hormone binding proteins; gonadotropin-releasing hormone (GnRH) agonists/antagonists analog; gonadotropins/their receptors; growth factors/reproduction; peptides as intratesticular regulators; molecular cloning of reproductive proteins/peptides. Gene cloning is applied for characterization/expression of genes coding. The interaction of gp120 with CD4 receptor plays a role in syncytium formation, apoptosis and CD4 cell deletion in human immunodeficiency virus (HIV) infection. The recombinant V3 peptide of fragment 307-330 of HIV-1 can induce sperm head agglutination. The generation process of react
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PMID:Recent advances in clinical/molecular andrology. 958 57

The elderly population is increasing as baby boomers are beginning to approach retirement. People 65 years of age or older already constitute approximately one eighth of the U.S. population; this proportion is expected to double in the next 50 years. Older Americans have their own population-specific health challenges, such as Alzheimer's disease, osteoporosis, adult-onset diabetes, prostate cancer, menopause, and hypertension. Human immunodeficiency virus (HIV) infection and acquired immunodeficiency syndrome (AIDS) are seldom discussed within this community. Prevention, counseling, testing, and education efforts are not being directed their way. In addition, few practitioners are experts both in HIV and health problems associated with aging, resulting in misdiagnosis, especially in the early stages when AIDS symptoms such as fatigue, weight loss, night sweats, and diminished appetite are dismissed as part of the aging process. Very few HIV-related social support services have been aimed at the needs of the elderly, perhaps because older Americans are not suspected to be sexually active or are assumed to be in a monogamous, heterosexual relationship. Older Americans are not suspected of drug use. Yet many are sexually active, often demonstrating risky sexual behavior, such as dispensing with the use of condoms; and the isolation that frequently accompanies old age can lead to alcoholism and injectable drug use. This article examines methods suggested in the literature both in terms of primary and secondary prevention of HIV/AIDS in older Americans. The cost of these efforts is enumerated, and organizations who gear their efforts in reaching and educating older Americans regarding their risks are described.
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PMID:HIV in older Americans: an epidemiologic perspective. 1081 63

This chapter reviews published studies in the field of pediatric therapeutics between July 1998 and July 2000. The most important area discussed in the first part of the chapter concerns the significant advances made in the labeling of drugs for children in the United States. Dr Harry Shirkey coined the term "therapeutic orphan" in 1968 to describe the state of children who were not being considered in either drug development or in drug clinical trials. This explains why about 80% of drugs listed in each edition of the Physicians' Desk Reference do not have labeling for the pediatric age group, especially children younger than 12 years. The recent legislative, regulatory, and pharmaceutical company activities to change this situation are summarized. These changes are current and promise to make significant contributions to the availability of drugs with adequate pediatric indications to the practicing physician. Another important change in recent years has been the appreciation of the importance of placebo-controlled clinical trials for psychotropic medications in children. Trials with one of the selective serotonin reuptake inhibitors, as well as further studies involving the appropriate dosing and preparation of stimulant drugs for attention-deficit/hyperactivity disorder (ADHD), are also discussed. Several new areas that promise significant knowledge in therapeutics are in the treatment of osteoporosis (a neglected condition in pediatrics), arthritis (a condition for which drugs are used to treat the disease rather than the symptoms), and acquisition of data concerning transplacental transfer of human immunodeficiency virus (HIV) and use of multiple anti-HIV drugs for treatment of this virus in the pediatric population.
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PMID:Advances in pediatric pharmacology, therapeutics, and toxicology. 1148 Jul 67

Interleukin-1 receptor antagonist (IL-1RA) is a naturally occurring competitive inhibitor of interleukin-1 (IL-1)-induced proinflammatory activity. The IL-1RA gene is polymorphic, resulting in quantitative differences in both IL-1RA and IL-1beta production. Persons homozygous for allele 2 of the IL-1RA gene (IL1RN*2) have a more prolonged and more severe proinflammatory immune response than persons with other IL-1RA genotypes. Thus, being IL1RN*2 homozygous might be beneficial when combating infectious agents or malignantly transformed cells, but it might be detrimental for those with chronic inflammatory conditions or who are pregnant. The IL1RN*2 phenotype is associated with ulcerative colitis and Crohn's disease, lupus erythematosus, vulvar vestibulitis, and possibly with osteoporosis and coronary artery disease. IL1RN*2 homozygosity may also be associated with recurrent spontaneous abortion, preterm birth, and severity of preeclampsia. Conversely, there are negative associations between IL1RN*2 homozygosity and vaginal colonization with mycoplasmas, infection with human cytomegalovirus and Epstein-Barr virus, human immunodeficiency virus proliferation, and the occurrence of ovarian cancer.
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PMID:Influence of interleukin-1 receptor antagonist gene polymorphism on disease. 1174 Jul 9

Summary - In the last few years, the use of highly active antiretroviral therapy has radically modified the prognosis of human immunodeficiency virus (HIV) infection. Osteonecrosis and osteoporosis are among the bone complications recently described in HIV-infected patients. We report a preliminary study comparing 47 HIV-infected patients (31 men and 16 women) to 47 age- and sex-matched controls. Bone mineral density was lower in patients than in controls: in men, 0.919 +/- 0.120 g/cm2 vs. 1.010 +/- 0.139 g/cm2 (P = 0.01) at the total hip and 0.948 +/- 0.100 g/cm2 vs. 1.043 +/- 0.117 g/cm2 (P = 0.0008) at the lumbar spine; in women, 0.912 +/- 0.149 g/cm2 vs. 0.968 +/- 0.090 g/cm2 at the total hip (P = 0.17) and 0.989 +/- 0.152 g/cm2 vs. 1.080 +/- 0.097 g/cm2 (P = 0.01) at the lumbar spine. HIV-infected males were more likely to have osteopenia and osteoporosis, as compared to the male controls (19 vs. 14 and 4 vs. 1, respectively, P = 0.02). None of the women had osteoporosis; nine HIV-infected women and one female control had osteopenia (P = 0.003). No fractures were recorded. In this preliminary study, no evidence supporting a relationship between bone loss and protease inhibitor treatment was found.
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PMID:Osteopenia in patients infected by the human immunodeficiency virus. A case control study. 1247 32

To provide an overview of the epidemiologic parameters of emerging adverse effects associated with antiretroviral therapy for human immunodeficiency virus (HIV) disease. All available antiretroviral agents are associated with significant adverse drug effects. Of particular interest are newly emerging suspected adverse drug effects which were not generally noted in pre-marketing trials nor captured under current standard clinical care practices. Suspected antiretroviral toxicities meeting these criteria include: HIV-associated lipodystrophy which can include peripheral lipoatrophy, lipohypertrophy and metabolic abnormalities; hyperlactatemia and lactic acidosis; and metabolic bone abnormalities such as decreased bone mineral density, osteoporosis and osteonecrosis. Results of prospective and observational studies reported to date suggest that these abnormalities, while aetiologically complex, are likely attributable to treatment factors and may be intricately interrelated. The medical management of these symptoms remains unsatisfactory given the unexplored efficacy of traditional approaches in the HIV positive population. While the pathogenic mechanism of these disorders remains obscure, a theory of tissue-specific mitochondrial toxicity has been proposed. With the continued introduction of novel therapies and standard treatment with combination therapy, new adverse events will continue to emerge among persons being treated for HIV disease. Beyond their immediate clinical implications, these events may contribute to changing patterns of antiretroviral utilisation including therapy initiation, adherence and cessation.
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PMID:Emerging drug toxicities of highly active antiretroviral therapy for human immunodeficiency virus (HIV) infection. 1252 86


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