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At least 433 records · Page 24Linked to original sources
PubMed2004

Vitamin D receptor gene polymorphisms in relation to Vitamin D related disease states.

The role in skeletal metabolism of the steroid hormone Vitamin D and its nuclear receptor (VDR) is well known. In addition, however, Vitamin D is also involved in a wide variety of other biological processes including modulation of the immune response and regulation of cell proliferation and differentiation. Variations in the Vitamin D endocrine system have thus been linked to several diseases, including osteoarthritis, diabetes, cancer, cardiovascular disease and tuberculosis. Evidence to support this pleiotropic character of Vitamin D has included epidemiological studies on circulating Vitamin D hormone levels, but also genetic epidemiological studies. Genetic studies provide excellent opportunities to link molecular insights with epidemiological data and have therefore gained much interest. DNA sequence variations which occur frequently in the population are referred to as "polymorphisms" and are usually suspected of having only modest and subtle effects. Recent studies have indicated many polymorphisms to exist in the VDR gene, but the influence of VDR gene polymorphisms on VDR protein function are largely unknown. Sofar, three adjacent restriction fragment length polymorphisms (RFLP) for BsmI, ApaI and TaqI, respectively, at the 3' end of the VDR gene have been the most frequently studied sofar. But because these polymorphisms are probably non-functional, linkage disequilibrium (LD) with one or more truly functional polymorphisms elsewhere in the VDR gene is assumed to explain the associations observed. Research is therefore focussed on documenting additional polymorphisms across the VDR gene to verify this hypothesis, and on trying to understand the functional consequences of the variations. Substantial progress has been made including the discovery of novel polymorphisms in the large promoter region of the VDR gene. Eventually, results of this research will deepen our understanding of variability in the Vitamin D endocrine system and might find applications in risk-assessment of disease and in predicting response-to-treatment.

Humans↗
PubMed1979

Hormonal hyperthermia: endocrinologic causes of fever.

Although hyperthermia is a component of many endocrine diseases, it is uncommon for fever to be the presenting manifestation of hormonal disorders. During a four year period we encountered six patients, hospitalized principally because of fever, who were found to have endocrine causes for the fever. In all, the admitting diagnosis was infection; three were suspected of having tuberculosis, two of gram-negative bacteremia and one of endocarditis. Except for asymptomatic bacteriuria in one patient (who remained febrile despite appropriate antibiotic therapy) infection was ruled out in all cases, and fever was attributed to "masked" thyrotoxicosis, triiodothyronine (T3) toxicosis, subacute thyroiditis, primary adrenal insufficiency, secondary adrenal insufficiency and pheochromocytoma. In a seventh patient, extreme pyrexia developed in the setting of the thyroid storm. The importance of hormonal mechanisms in thermoregulation is discussed.

Addison Disease↗
PubMed1994

Immunotherapy of tuberculosis with Mycobacterium vaccae NCTC 11659.

The history of immunotherapy for tuberculosis is briefly reviewed, and the early appreciation of the importance of secreted antigens, common mycobacterial antigens and stress proteins is noted. The methods by which Mycobacterium vaccae strain NCTC 11659 was selected for special attention, and results of some of the pilot studies of its use as an immunotherapeutic for tuberculosis are reviewed. The results suggested that immunotherapy with M. vaccae may be an important step forward in the treatment and eventual control of tuberculosis. Used in combination with modern short course chemotherapy, treatment failures and deaths during treatment can be significantly reduced. Preliminary data suggests that shortened courses of chemotherapy may be possible when combined with immunotherapy, and such treatment may also be effective in patients co-infected with HIV. Studies at several centers show that M. vaccae may have an important part to play in the treatment of multi-drug resistant tuberculosis, especially when resistance is of the primary type. The mechanism by which M. vaccae achieves these results may be through adrenal endocrine influences on immunity, but remains speculative.

AIDS-Related Opportunistic Infections↗
PubMed2004

Genetics and biology of vitamin D receptor polymorphisms.

The vitamin D endocrine system is involved in a wide variety of biological processes including bone metabolism, modulation of the immune response, and regulation of cell proliferation and differentiation. Variations in this endocrine system have, thus, been linked to several common diseases, including osteoarthritis (OA), diabetes, cancer, cardiovascular disease, and tuberculosis. Evidence to support this pleiotropic character of vitamin D has included epidemiological studies on circulating vitamin D hormone levels, but also genetic epidemiological studies. Genetic studies provide excellent opportunities to link molecular insights with epidemiological data and have therefore gained much interest. DNA sequence variations, which occur frequently in the population, are referred to as "polymorphisms" and can have modest and subtle but true biological effects. Their abundance in the human genome as well as their high frequencies in the human population have made them targets to explain variation in risk of common diseases. Recent studies have indicated many polymorphisms to exist in the vitamin D receptor (VDR) gene, but the influence of VDR gene polymorphisms on VDR protein function and signaling is largely unknown. So far, three adjacent restriction fragment length polymorphisms for BsmI, ApaI, and TaqI, respectively, at the 3' end of the VDR gene have been the most frequently studied. Because these polymorphisms are probably nonfunctional, linkage disequilibrium with one or more truly functional polymorphisms elsewhere in the VDR gene is assumed to explain the associations observed. Research is therefore focussed on documenting additional polymorphisms across the VDR gene to verify this hypothesis and on trying to understand the functional consequences of the variations. Substantial progress has been made that will deepen our understanding of variability in the vitamin D endocrine system and might find applications in risk assessment of disease and in predicting response-to-treatment.

Chromosomes, Human, Pair 12↗
PubMed1991

Endocrine organ failure due to systemic AA-amyloidosis.

We describe a patient with panhypopituitarism and adrenal insufficiency associated with systemic AA-amyloidosis caused by tuberculosis. This case demonstrates the ongoing process of amyloidosis, despite a presumed cure for the tuberculosis more than 30 years previously. Difficulties in recognizing clinical symptoms and interpreting laboratory data in a patient on regular haemodialysis are discussed.

Adrenal Insufficiency↗
PubMed2005

Gorham's disease of the mandible mimicking periodontal disease on radiograph.

BACKGROUND: Gorham's disease is a rare disorder characterized by spontaneous and progressive osteolysis of one or more skeletal bones. The radiographic findings associated with Gorham's disease are particularly dramatic, as in some cases a complete resorption of the involved bone can occur, leading to the definition of phantom bone, vanishing bone, or disappearing bone disease. MATERIAL AND METHODS: A 24-year-old female patient with a previous diagnosis of periodontal disease and progressive mandibular alveolar bone loss was referred to our Oral Medicine section. The initial radiographic picture showed infrabony defects and horizontal bone loss. RESULTS: After further extensive local and systemic evaluation, including histopathological, laboratory and imagine techniques investigations, the patient was diagnosed to be affected by Gorham's disease. Meanwhile the progression of the osteolytic process had caused the loosening of all the left mandibular teeth and a pathologic fracture. Appropriate medical therapy was successful in stabilizating the resorptive process, with no evidence of further progressive disease. CONCLUSIONS: When Gorham's disease involves the mandible, the role of the periodontologist is extremely important in diagnosing promptly the disorder and preventing the functional and aesthetic consequences of advanced and extensive bone loss. Gorham's disease should be included among the pathologic entities mimicking periodontal disease on radiograph, such as inflammatory disease (e.g. osteomyelitis), endocrine disease (e.g. hyperparathyroidism), intra-osseous malignancies or metastases, lymphoma, histiocytosis X, mainly eosinophilic granuloma, infective process (e.g. tuberculosis and actinomycosis), odontogenic tumours.

Adult↗
PubMedDate not supplied

Vitamin-D receptor (VDR) gene (Fok-I, Taq-I and Apa-I) polymorphisms in healthy individuals from north Indian population.

The vitamin-D endocrine system is involved in a wide variety of biological processes including bone metabolism, modulation of immune responses, and regulation of cell proliferation and differentiation. Variation in this endocrine system have, thus, been linked to several common diseases, including osteoarthritis (OA), diabetes, cancer, cardiovascular ailments, urolithiasis and tuberculosis. Activity of Vit-D is mediated by the vitamin D receptor (VDR), a ligand dependent receptor. VDR gene polymorphisms thus represent strong positional candidates for different diseases like prostate cancer, urolithiasis, inflammatory bowl disease and osteoporosis. Genetic studies provide excellent opportunities to link molecular insights with epidemiological data and can reveal modest and subtle but true biological effects. The abundance of polymorphisms in the human genome as well as high frequencies in human populations have made them targets to explain variation in risk of common diseases. The present study was carried out to determine the distribution of VDR gene (Fok-I, Taq-I and Apa-I) polymorphisms using a PCR-based restriction analysis in unrelated normal healthy individuals from a north Indian population. We obtained allelic frequencies of (68.5% vs 31.5%), (66% vs 34%) and (58% vs 42%) for (F vs f), (T vs t) and (A vs a) alleles, with 44%, 49% and 7%, respectively, for genotypes FF, Ff and ff , 49%, 40% and 11% for TT, Tt and tt and 36%, 44% and 20% for AA, Aa and aa. Our results suggest that the frequency and distribution of the polymorphisms in India are substantially different from in other populations and ethnic groups. Thus the data signify an impact of ethnicity and provide a basis for future epidemiological and clinical studies.

Adolescent↗
PubMed1991

Acquired primary endocrine failure in adult Ethiopian patients.

Over a 4 year period, February 1986 to January 1990, 18 patients with acquired primary endocrine failure were seen in the weekly endocrine clinic of Tikur Anbessa teaching and referral hospital in Addis Abeba. Eight patients had hypothyroidism and 4 Addison's disease; 3 of the 5 hypothyroid and 2 of the 3 Addison's cases on whom autoantibodies were determined were positive. One patient had polyglandular failure, involving the adrenal and thyroid glands and the gonads. In one patient tuberculosis was the cause of Addison's disease and 2 patients each had hypothyroidism and hypoparathyroidism, respectively, following surgery. All the patients had clinical, hormonal and/or biochemical evidence of endocrine failure and all but the hypoparathyroid patients responded to the replacement therapy. There was one patient who had an unusual but confusing discordant hypothyroxinaemia and hypertriiodothyroninaemia who developed hypothyroidism during treatment for his Graves' disease; the hypothyroidism resolved when the medication was stopped. The results of this study indicate that autoimmune endocrine failure is probably not as rare as it was previously thought and hence further studies are recommended to find out if the incidence among Ethiopians is, indeed, similar to or different from the results in other African patients.

Addison Disease↗
PubMed1999

[The frequency of illnesses attended and its relationship with the maintenance of the family doctor's skill].

OBJECTIVE: To describe the incidence of health problems dealt with less often in primary care medical consultations, and to discuss its relationship with the maintenance of professional skill, with in-work training and case-load planning. DESIGN: A prospective observational study based on a year's recording. SETTING: The clinics of 44 primary care doctors from 10 autonomous communities. PATIENTS: 418,98 people were attended. INTERVENTIONS: The unit of analysis was the care episode. The incidence per 1000 people attended, in total and by demographic mean, of the less common health complaints (incidence less than 1/1000) was calculated. RESULTS: Primary care doctors attended at greater frequency than 1/1000 all diseases of eyes, ears, mastoids (except salpingitis) and menstrual disorders codifiable under the classification CIPSAP; almost all the respiratory, skin and locomotive diseases, and more than half of the circulatory, genito-urinary, digestive and endocrine-metabolic diseases. Incidence was less than 1/1000 in all the malignant tumours and contagious diseases, except viral hepatitis and tuberculosis in the urban setting. CONCLUSIONS: Primary care doctors do not often attend certain serious diseases, which are nevertheless present in many differential diagnoses (malignant tumours). This should be borne in mind in the training strategies aimed at maintaining doctor's diagnostic skills.

Clinical Competence↗
PubMed1986

Perspectives in adolescent tuberculosis: three decades of experience.

Three hundred seventy-one adolescents and young adults, 10 to 20 years of age, were treated for tuberculosis during a 29-year period. There were 258 patients tuberculin positive without disease, 37 with calcifications on chest roentgenographs, and 76 with active tuberculous disease. All patients received chemotherapy. Active tuberculosis was more common in the 10- to 12-year-old patients. The greater number of tuberculin reactors in this age group suggests that endocrine factors related to the onset of puberty may play a role in conversion. No significant sex difference was apparent. Drug toxicity was rarely a problem. Pregnancy subsequent to therapy was not associated with progression or reactivation of disease. Two (possibly three) patients who were properly treated and compliant with the drug regimen had reactivation disease 4 to 14 years later. Cavitary pulmonary disease occurred in the two compliant patients. Meningitis, believed to be tuberculous, occurred in the suspected case. Two of these received isoniazid prophylaxis for skin test conversion only. In one patient, treated with two drugs for primary tuberculosis in the past, tuberculous pneumonia developed later. All three recovered. Although reactivation does occur, it is rare. Because most tuberculin reactors were discovered in the 10- to 12-year age group when screened routinely in high school, this procedure should not be abandoned.

Adolescent↗
PubMed1995

Leydig cell tumour in a man with human immunodeficiency virus.

We report a case of Leydig-cell testicular tumour in a 32-year-old intravenous drug abuser bearing HIV-infection and pulmonary tuberculosis. The testicular mass was initially interpreted as genital tuberculosis and the diagnosis was made by aspiration cytology. Radical orchiectomy was performed and pathology revealed a Leydig-cell tumour. Gynecomastia was found as a possible sign of endocrine activity. Although testicular malignancies in men with human immunodeficiency virus are increasingly reported, this is the first case of Leydig-cell neoplasia associated to HIV-infection.

Adult↗