Sample records for addison disease

  1. Addison Disease (United States)

    ... blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make ... problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, ...

  2. Addison's Disease (United States)

    ... who have Addison’s disease find that taking this medicine improves their mood and sex drive.If you are experiencing an Addisonian crisis, you need immediate medical care. The treatment typically ...

  3. [Idiopathic Addison's disease]. (United States)

    Khodasevich, L S; Sukhanov, S G


    Two cases of idiopathic Addison's disease affecting heterozygous twins who died from addisonian crisis at the ages of 7 and 10 years, are described, including descriptions of histologic findings in the adrenals, thymus, hypophysis, kidneys, esophagus, upper respiratory tract, and other viscera. The authors believe that autoimmunization in children with idiopathic Addison's disease develops in the presence of congenitally defective immunity and propose that activation of the juxtaglomerular complex and hypergranulation of interstitial cells in the inner renal medulla may be used as morphologic criteria in the diagnosis of addisonian crisis.

  4. Autoimmune Addison disease: pathophysiology and genetic complexity. (United States)

    Mitchell, Anna L; Pearce, Simon H S


    Autoimmune Addison disease is a rare autoimmune disorder with symptoms that typically develop over months or years. Following the development of serum autoantibodies to the key steroidogenic enzyme, 21-hydroxylase, patients have a period of compensated or preclinical disease, characterized by elevations in adrenocortocotropic hormone and renin, before overt, symptomatic adrenal failure develops. We propose that local failure of steroidogenesis, causing breakdown of tolerance to adrenal antigens, might be a key factor in disease progression. The etiology of autoimmune Addison disease has a strong genetic component in man, and several dog breeds are also susceptible. Allelic variants of genes encoding molecules of both the adaptive and innate immune systems have now been implicated, with a focus on the immunological synapse and downstream participants in T lymphocyte antigen-receptor signaling. With the exception of MHC alleles, which contribute to susceptibility in both human and canine Addison disease, no major or highly penetrant disease alleles have been found to date. Future research into autoimmune Addison disease, making use of genome-wide association studies and next-generation sequencing technology, will address the gaps in our understanding of the etiology of this disease.

  5. Addison disease in adults: diagnosis and management. (United States)

    Chakera, Ali J; Vaidya, Bijay


    Addison disease is a rare but potentially fatal disorder of the adrenal glands. Its manifestations are often confused with many common disorders, and a high index of suspicion is required for the diagnosis. Optimum steroid replacement and patient education are vital for good quality of life and to prevent acute adrenal crisis in this condition. Copyright 2010 Elsevier Inc. All rights reserved.

  6. Genetic evaluation of Addison's disease in the Portuguese Water Dog

    Directory of Open Access Journals (Sweden)

    Belanger JM


    Full Text Available Abstract Background Addison's disease, also known as hypoadrenocorticism, has been reported in many individual dogs, although some breeds exhibit a greater incidence than the population as a whole. Addison's is presumed to be an autoimmune mediated hereditary defect but the mode of inheritance remains unclear. In particular, the heritability and mode of inheritance have not been defined for the Portuguese Water Dog although Addison's is known to be prevalent in the breed. Results The analyses present clear evidence that establishes Addison's disease as an inherited disorder in the Portuguese Water Dog with an estimate of heritability of 0.49 (± 0.16; there were no differences in risk for disease across sexes (p > 0.49. Further, the complex segregation analysis provides suggestive evidence that Addison's disease in the Portuguese Water Dog is inherited under the control of a single, autosomal recessive locus. Conclusion The high heritability and mode of inheritance of Addison's disease in the Portuguese Water Dog should enable the detection of segregating markers in a genome-wide scan and the identification of a locus linked to Addison's. Though the confirmation of Addison's disease as an autosomal recessive disorder must wait until the gene is identified, breeders of these dogs may wish to keep the present findings in mind as they plan their breeding programs to select against producing affected dogs.

  7. Addison disease: early detection and treatment principles. (United States)

    Michels, Aaron; Michels, Nicole


    Primary adrenal insufficiency, or Addison disease, has many causes, the most common of which is autoimmune adrenalitis. Autoimmune adrenalitis results from destruction of the adrenal cortex, which leads to deficiencies in glucocorticoids, mineralocorticoids, and adrenal androgens. In the United States and Western Europe, the estimated prevalence of Addison disease is one in 20,000 persons; therefore, a high clinical suspicion is needed to avoid misdiagnosing a life-threatening adrenal crisis (i.e., shock, hypotension, and volume depletion). The clinical manifestations before an adrenal crisis are subtle and can include hyperpigmentation, fatigue, anorexia, orthostasis, nausea, muscle and joint pain, and salt craving. Cortisol levels decrease and adrenocorticotropic hormone levels increase. When clinically suspected, patients should undergo a cosyntropin stimulation test to confirm the diagnosis. Treatment of primary adrenal insufficiency requires replacement of mineralocorticoids and glucocorticoids. During times of stress (e.g., illness, invasive surgical procedures), stress-dose glucocorticoids are required because destruction of the adrenal glands prevents an adequate physiologic response. Management of primary adrenal insufficiency or autoimmune adrenalitis requires vigilance for concomitant autoimmune diseases; up to 50% of patients develop another autoimmune disorder during their lifetime.

  8. Addison disease - diagnosis and initial management. (United States)

    O'Connell, Susan; Siafarikas, Aris


    Adrenal insufficiency is a rare disease caused by either primary adrenal failure (Addison disease) or by impairment of the hypothalamic-pituitary-adrenal axis. Steroid replacement therapy normalises quality of life, however, adherence can be problematic. This article provides information on adrenal insufficiency focusing on awareness of initial symptoms and on risk scenarios, emergency management and baseline investigations, complete investigations and long term management. Early recognition of adrenal insufficiency is essential to avoid associated morbidity and mortality. Initial diagnosis and decision to treat are based on history and physical examination. Appropriate management includes emergency resuscitation and steroid administration. Initial investigations can include sodium, potassium and blood glucose levels. However, complete investigations can be deferred. Specialist advice should be obtained and long term management includes a Team Care Arrangement. For patients, an emergency plan and emergency identification are essential.

  9. Erythema induratum of Bazin associated with Addison's disease: first description

    Directory of Open Access Journals (Sweden)

    Rodrigo Antonio Brandão Neto

    Full Text Available CONTEXT: Erythema induratum of Bazin (EIB is considered to be a tuberculid reaction and consists of recurrent painful nodules. The differential diagnosis includes diseases like nodular vasculitis, perniosis, polyarteritis nodosa and erythema nodosum. CASE REPORT: We report the case of a woman with EIB who developed Addison's disease during treatment with anti-tuberculosis drugs with good response to glucocorticoid replacement. The diagnosis was obtained through the clinical picture, positive tuberculin test and positive BCG (bacillus Calmette-Guérin test on the histological sample. Anti-tuberculosis drugs and glucocorticoid replacement led to disappearance of the signs and symptoms. CONCLUSIONS: This is the first description of an association between EIB and Addison's disease. It should be borne in mind that tuberculosis is an important etiological factor for Addison's disease.

  10. Bone mineral density in patients with treated Addison's disease. (United States)

    Braatvedt, G D; Joyce, M; Evans, M; Clearwater, J; Reid, I R


    Some studies have reported low bone mineral density (BMD) in patients with Addison's disease, whereas others have found BMD to be normal. It is possible that over-replacement of corticosteroids and adrenal androgen deficiency may contribute to a reduction in BMD in these patients. The aims of this study were to examine BMD using dual-energy X-ray absorptiometry in patients with treated Addison's disease at multiple skeletal sites and to investigate the relationships between these measurements and corticosteroid dose. Nineteen men, 3 premenopausal and 7 postmenopausal women with Addison's disease were studied and data from these patients were analyzed separately and as a group. The mean SEM age and duration of Addison's disease of the men were 44 +/- 3.8 years and 15 +/- 2.2 years, in the premenopausal women 40 +/- 2 years and 5 +/- 2.4 years, and in the postmenopausal women 68 +/- 4 years and 20 +/- 5 years, respectively. Eight men were unexpectedly hypogonadal (serum testosterone <13 nmol/l). BMD was expressed as a percent of values in normal controls (n = 418) adjusted for age, sex, ethnic origin, menopausal status and body weight. In the whole group (n = 29), mean BMD of the patients with Addison's disease was not different from normal at any site [mean (+/- SEM) lumbar spine 99.5% +/- 2.9%; femoral neck 99.3% +/- 2.5%; Ward's triangle 96.2% +/- 3.5%; trochanter 99.2% +/- 2.9%; radius 99.8% +/- 2.1%; total body 98.5% +/- 1.4%]. However, there was a wide range of bone densities, with some patients having a low BMD at multiple sites. Bone density was negatively correlated with current and cumulative corticosteroid dose per kilogram body weight and duration of Addison's disease. In conclusion, BMD in patients with Addison's disease is little different from normal, but may be lower in patients with disease of long duration and a high cumulative corticosteroid dose. Unexpected hypogonadism in men with Addison's disease is common.

  11. [The incidence of the pituitary autoantibodies in Addison disease]. (United States)

    Gut, Paweł; Kosowicz, Jerzy; Ziemnicka, Katarzyna; Baczyk, Maciej; Sowiński, Jerzy


    Addison disease (primary insufficience of adrenal cortex) characterized by clinical signs and symptoms associated with deficiency of adrenal hormones. The most frequent etiopathogenesis of Addison disease is related with autoimmunization. In sera of Addison patients are detectable autoantibodies against another endocrine glands. The aim of the study was evaluation of pituitary autoantibodies in Addison disease patients using immunoblotting methods. Studies were performed in 19 Addison disease patients, 16 women (age range: 28-63 yrs, median: 43.5 +/- 8.9) and 3 men (age range: 18-45 yrs, median: 30.6 +/- 9.8). All patients presented signs and symptoms typical of primary insufficiency of adrenal cortex. Sera of control subjects were obtained from 10 healthy blood donors, 7 women, 3 men (age range 21-45 yrs, median: 30.6 +/- 7.1). Incidence of pituitary autoantibodies was assessed by polyacrylamide electrophoresis gel and western-blotting. Pituitary microsomes were obtained from human pituitary tissues by ultracentrifugation and solubilisation in 1% desoxycholic acid. In 14 sera from 19 we detected autoantibodies against pituitary microsomal antigen 67 kDa, 12 sera were recting with 60 kDa and 10 sera with 55 kDa. It is important to note that 10 sera were reacting with 67 and 55 kDa, and 9 sera with 55, 60 and 67 kDa. In sera of Addison disease patients autoantibodies against pituitary microsomal antigens can be frequently detected. The most frequent are antibodies against 55, 60 and 67 kDa antigens.

  12. Addison's disease and ACTH-producing pituitary microadenoma

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    S.S. Ortega


    Full Text Available A 28-year-old man diagnosed with primary adrenal insufficiency (Addison's disease in 2002. Following diagnosis, replacement therapy with hydrocortisone and fludrocortisone was indicated. Hydrocortisone replacement therapy was unsuccessful, and increased ACTH levels as high as 996 pg/dl were observed on outpatient follow-up. A pituitary MRI revealed a pituitary microadenoma. These findings raised three possibilities: (1 treatment is insufficient; (2 there is no relationship between Addison's disease and pituitary microadenoma; and (3 the microadenoma is similar to Nelson's syndrome. This latter is the most satisfactory explanation of this patient's clinical picture.

  13. Jane Austen and Addison's disease: an unconvincing diagnosis. (United States)

    White, K G


    Jane Austen's letters describe a two-year deterioration into bed-ridden exhaustion, with unusual colouring, bilious attacks and rheumatic pains. In 1964, Zachary Cope postulated tubercular Addison's to explain her symptoms and her relatively pain-free illness. Literary scholars later countered this posthumous diagnosis on grounds that are not well substantiated, while medical authors supported his conclusion. Important symptoms reported by contemporary Addison's patients-mental confusion, generalised pain and suffering, weight loss and anorexia-are absent from Jane Austen's letters. Thus, by listening to the patient's perspective, we can conclude it is unlikely that Addison's disease caused Jane Austen's demise. Disseminated bovine tuberculosis would offer a coherent explanation for her symptoms, so that Cope's original suggestion of infective tuberculosis as the cause of her illness may have been correct.

  14. X-Linked adrenoleukodystrophy is a frequent cause of idiopathic Addison`s disease in young adult male patients

    Energy Technology Data Exchange (ETDEWEB)

    Laureti, S.; Casucci, G.; Santeusanio, F. [Univ. of Perugia (Italy)] [and others


    X-Linked adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination of the central nervous system, adrenal insufficiency, and accumulation of very long chain fatty acids in tissue and body fluids. ALD is due to mutation of a gene located in Xq28 that encodes a peroxisomal transporter protein of unknown function. The most common phenotype of ALD is the cerebral form (45%) that develops in boys between 5-12 yr. Adrenomyeloneuropathy (AMN) involves the spinal cord and peripheral nerves in young adults (35%). Adrenal insufficiency (Addison`s disease) is frequently associated with AMN or cerebral ALD and may remain the only clinical expression of ALD (8% of cases). The prevalence of ALD among adults with Addison`s disease remains unknown. To evaluate this prevalence, we performed biochemical analysis of very long chain fatty acids in 14 male patients (age ranging from 12-45 yr at diagnosis) previously diagnosed as having primary idiopathic adrenocortical insufficiency. In 5 of 14 patients (35%), elevated plasma concentrations of very long chain fatty acids were detected. None of these patients had adrenocortical antibodies. By electrophysiological tests and magnetic resonance imaging it was determined that two patients had cerebral ALD, one had adrenomyeloneuropathy with cerebral involvement, and two had preclinical AMN. Our data support the hypothesis that ALD is a frequent cause of idiopathic Addison`s disease in children and adults. 30 refs., 5 tabs.

  15. An Addison disease revealed with a serious hyponatremia. (United States)

    Maguet, Hadrien; Carreau, Agnès; Hautefeuille, Serge; Bonnin, Pierre; Beaune, Gaspard


    We present the case of an Addison's disease revealed by a serious hyponatremia. The serum concentration of ACTH and 21-hydroxylase antibodies were increased and lead to the diagnosis. The cortisol blood level was lowered but required to take into account the stress induced by the hospitalisation of the patient. Addison's disease is characterized by the destruction of the adrenal cortex. Autoimmune adrenalitis is the main cause of adrenal insufficiency. Treatment involves normalisation of sodium concentration and corticosteroids replacement. With a good patient compliance, the survival rate of Addisonian patient is similar to that of the normal population. Management of patient requires vigilance because of the occurrence of others autoimmunes diseases during patient life.

  16. Treatment of addison disease and subsequent hypophosphatemic respiratory failure. (United States)

    Meisterling, Leah; Chawla, Lakhmir S; Seneff, Michael G


    A 38-year-old man was found unresponsive with hypoglycemia by emergency medical service (EMS) personnel. He was intubated in the emergency department after reports of seizure activity. With supportive care and empiric steroids, the patient was extubated the next day. He reported a diagnosis of Addison disease and noncompliance with his steroid replacement therapy. Within 12 hours, respiratory failure and altered mental status required reintubation. Laboratory studies revealed rhabdomyolysis and hypophosphatemia. The replacement of glucose likely stimulated glycolysis, formation of phosphorylated glucose compounds, and an intracellular shift of phosphorus. This patient required phosphate replacement and was extubated on hospital day 5. We report a unique case of hypoglycemia due to Addison disease, leading to hypophosphatemic respiratory failure.

  17. Addison's Disease Revisited in Poland: Year 2008 versus Year 1990

    Directory of Open Access Journals (Sweden)

    Anna A. Kasperlik-Zaluska


    Full Text Available This study aimed at comparing two groups of patients with Addison's disease: A, including 180 patients described in 1991 and B, consisting of 138 patients registered since 1991. The incidence of coexisting autoimmune disorders was evaluated and etiological factors were analyzed. Immunological and imaging studies (computed tomography in group B were performed. Adrenal autoantibodies were examined by an indirect immunofluorescence technique in group A, and by the assay measuring autoantibodies against steroid 21-hydroxylase in group B. Adrenal autoantibodies were revealed in 37% of patients examined by the immunofluorescence method and in 63% investigated by the modern technique. Tuberculosis was found in 52 patients in the group A and in two patients in the group B; metastatic infiltrations of the adrenals in CT were detected in 16 patients. Probable autoimmune Addison's disease was diagnosed in 125/180 patients (69% in the group A and in 116/138 patients (84% in the group B.

  18. Addisons disease in an Indian female – A rarity | Brar | Sudanese ...

    African Journals Online (AJOL)

    Addisons disease or primary adrenal insufficiency is a rare disease usually caused by autoimmune destruction of adrenal gland cortex. Those with Addisons disease have a deficiency of cortisol and aldostreone. These deficiencies are accompanied by adrenal androgen depletion. A case report of 43 year old female is ...

  19. Genetics Home Reference: autoimmune Addison disease (United States)

    ... features of other genetic conditions, including X-linked adrenoleukodystrophy and autoimmune polyglandular syndrome, type 1, which are ... disease Patient Support and Advocacy Resources (3 links) Adrenoleukodystrophy Foundation American Autoimmune Related Diseases Association National Adrenal ...

  20. Addison disease in patients treated with glucocorticoid therapy.

    LENUS (Irish Health Repository)

    Cronin, C C


    Acute adrenal crisis in patients with unrecognized chronic adrenocortical failure is difficult to diagnose and potentially fatal. We describe 2 patients with acute adrenal crisis whose diagnoses were hindered because of concomitant glucocorticoid treatment. Acute adrenal insufficiency is primarily a state of mineralocorticoid deficiency. Prednisolone and prednisone, the most frequently prescribed anti-inflammatory corticosteroid agents, have minimal mineralocorticoid activity. Several conditions that may be treated with pharmacological glucocorticoids are associated with an increased risk of Addison disease. An acute adrenal crisis, against which concurrent glucocorticoid therapy does not confer adequate protection, may develop in such patients.

  1. [Two 150 years anniversaries: Claude Bernard's internal environment and Addison disease]. (United States)

    Schreiber, V


    In 2005 two 150 years anniversaries, which essentially influenced the development of modern medicine will be celebrated. French physiologist Claude Bernard from College de France published his work "Lectures on Experimental Physiology, applied to medicine" and British medical doctor T. Addison described insufficiency of adrenal cortex, today known as Addison disease.

  2. AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS)

    DEFF Research Database (Denmark)

    Bøe Wolff, A S; Oftedal, B; Johansson, S


    Autoimmune Addison's disease (AAD) is often associated with other components in autoimmune polyendocrine syndromes (APS). Whereas APS I is caused by mutations in the AIRE gene, the susceptibility genes for AAD and APS II are unclear. In the present study, we investigated whether polymorphisms...... or copy number variations in the AIRE gene were associated with AAD and APS II. First, nine SNPs in the AIRE gene were analyzed in 311 patients with AAD and APS II and 521 healthy controls, identifying no associated risk. Second, in a subgroup of 25 of these patients, AIRE sequencing revealed three novel...... polymorphisms. Finally, the AIRE copy number was determined by duplex quantitative PCR in 14 patients with APS I, 161 patients with AAD and APS II and in 39 healthy subjects. In two Scandinavian APS I patients previously reported to be homozygous for common AIRE mutations, we identified large deletions...

  3. Adult cerebral adrenoleukodystrophy and Addison's disease in a female carrier. (United States)

    Chen, Xiaoyan; Chen, Zhiye; Huang, Dehui; Liu, Xiaofeng; Gui, Qiuping; Yu, Shengyuan


    We described a 38-year-old woman of rapidly progressive dementia with white matter encephalopathy and death. She had Addison's disease but the adrenal glands were hyperplastic. Brain magnetic resonance imaging revealed diffuse white matter lesion predominantly in the frontal lobe with band-like contrast enhancement. l-Methyl-11C-methionine positron emission tomography revealed accumulation of tracer in bilateral frontal lobes. Stereotactic biopsy demonstrated demyelination changes. A number of urinary organic acids were elevated. Adrenoleukodystrophy was diagnosed by elevated plasma very long chain fatty acid and ABCD1 gene mutation (C1544C/T). Adrenoleukodystrophy should be considered as a differential diagnosis in women with rapidly progressive white matter encephalopathy. Copyright © 2014 Elsevier B.V. All rights reserved.

  4. The role of patients' illness representations in coping and functioning with Addison's disease.

    NARCIS (Netherlands)

    Heijmans, M.


    Objective: To examine the relationship between illness representations, coping behaviour and adaptive outcome in patients with Addison's disease (AD). Design: Cross-sectional. Following Leventhal's self-regulation model (Leventhal, Meyer & Nerenz, 1980), it was hypothesized that illness

  5. Salivary cortisol day curves in assessing glucocorticoid replacement therapy in Addison's disease

    NARCIS (Netherlands)

    Smans, L.; Lentjes, E.G.W.M.; Hermus, A.R.; Zelissen, P.


    OBJECTIVE: Patients with Addison's disease require lifelong treatment with glucocorticoids. At present, no glucocorticoid replacement therapy (GRT) can exactly mimic normal physiology. As a consequence, under- and especially overtreatment can occur. Suboptimal GRT may lead to various side effects.

  6. Development of a disease-specific quality of life questionnaire in Addison's disease. (United States)

    Løvås, Kristian; Curran, Suzanne; Oksnes, Marianne; Husebye, Eystein S; Huppert, Felicia A; Chatterjee, V Krishna K


    Patients with Addison's disease reproducibly self-report impairment in specific dimensions of general well-being questionnaires, suggesting particular deficiencies in health-related quality-of-life (HRQoL). We sought to develop an Addison's disease-specific questionnaire (AddiQoL) that could better quantify altered well-being and treatment effects. Design, Setting, Patients, Intervention, and Outcomes: We reviewed the literature to identify HRQoL issues in Addison's disease and interviewed patients and their partners in-depth to explore various symptom domains. A list of items was generated, and nine expert clinicians and five expert patients assessed the list for impact and clarity. A preliminary questionnaire was presented to 100 Addison's outpatients; the number of items was reduced after analysis of the distribution of the responses. The final questionnaire responses were assessed by Cronbach's alpha and Rasch analysis. Published studies of HRQoL in Addison's disease indicated reduced vitality and general health perception and limitations in physical and emotional functioning. In-depth interviews of 14 patients and seven partners emphasized the impact of the disease on the emotional domain. Seventy HRQoL items were generated; after the expert consultation process and pretesting in 100 patients, the number of items was reduced to 36. Eighty-six patients completed the final questionnaire; the responses showed high internal consistency with Cronbach's alpha 0.95 and Person Separation Index 0.94 (Rasch analysis). We envisage AddiQoL having utility in trials of hormone replacement and management of patients with Addison's disease, analogous to similar questionnaires in GH deficiency (AGHDA) and acromegaly (AcroQoL).

  7. Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease. (United States)

    Horn, Morten A; Erichsen, Martina M; Wolff, Anette S B; Månsson, Jan-Eric; Husebye, Eystein S; Tallaksen, Chantal M E; Skjeldal, Ola H


    X-linked adrenoleukodystrophy is an important cause of Addison's disease in boys, but less is known about its contribution to Addison's disease in adult men. After surveying all known cases of X-linked adrenoleukodystrophy in Norway in a separate study, we aimed to look for any missed cases among the population of adult men with nonautoimmune Addison's disease. Among 153 adult men identified in a National Registry for Addison's Disease (75% of identified male cases of Addison's disease in Norway), those with negative indices for 21-hydroxylase autoantibodies were selected. Additionally, cases with low autoantibody indices (48-200) were selected. Sera from subjects included were analysed for levels of very long-chain fatty acids, which are diagnostic for X-linked adrenoleukodystrophy in men. Eighteen subjects had negative indices and 17 had low indices for 21-hydroxylase autoantibodies. None of those with low indices and only one of those with negative indices were found to have X-linked adrenoleukodystrophy; this subject had already been diagnosed because of the neurological symptoms. Cases of Addison's disease proved to be caused by X-linked adrenoleukodystrophy constitute 1·5% of all adult male cases in Norway; the proportion among nonautoimmune cases was 15%. We found X-linked adrenoleukodystrophy to be an uncommon cause of Addison's disease in adult men. However, this aetiological diagnosis has far-reaching consequences both for the patient and for his extended family. We therefore recommend that all adult men with nonautoimmune Addison's disease be analysed for levels of very long-chain fatty acids. © 2013 John Wiley & Sons Ltd.

  8. Continuous Subcutaneous Hydrocortisone Infusion versus Oral Hydrocortisone Replacement for Treatment of Addison's Disease: A Randomized Clinical Trial

    National Research Council Canada - National Science Library

    Øksnes, Marianne; Björnsdottir, Sigridur; Isaksson, Magnus; Methlie, Paal; Carlsen, Siri; Nilsen, Roy M; Broman, Jan-Erik; Triebner, Kai; Kämpe, Olle; Hulting, Anna-Lena; Bensing, Sophie; Husebye, Eystein S; Løvås, Kristian


    Context: Conventional glucocorticoid replacement therapy fails to mimic the physiological cortisol rhythm, which may have implications for morbidity and mortality in patients with Addison's disease. Objective...

  9. [Idiopathic adrenal cortex dystrophy with the clinical picture of Addison's disease]. (United States)

    Willgeroth, C; Becher, M; Zugehör, M


    Clinical and autopsy findings are reported of three cases of Addisons disease due to idiopathic dystrophy of the adrenal cortex as seen in two women, 20 and 37 years of age respectively as well as a boy of 14 years. Idiopathic dystrophy of the adrenal cortex as a cause of Addisons disease has become aware of more and more frequently for some years. Its classification as an auto-aggression disease has been made a subject for discussion. Morphological findings and immunological investigations with three own cases confirm this conception. This disease should be reminded of with regard to the problem of clinically diagnosing it and the fatal prognosis of untreated cases.

  10. Erythema induratum of Bazin associated with Addison's disease: first description Eritema indurado de Bazin associado à doença de Addison: primeira descrição

    Directory of Open Access Journals (Sweden)

    Rodrigo Antonio Brandão Neto


    Full Text Available CONTEXT: Erythema induratum of Bazin (EIB is considered to be a tuberculid reaction and consists of recurrent painful nodules. The differential diagnosis includes diseases like nodular vasculitis, perniosis, polyarteritis nodosa and erythema nodosum. CASE REPORT: We report the case of a woman with EIB who developed Addison's disease during treatment with anti-tuberculosis drugs with good response to glucocorticoid replacement. The diagnosis was obtained through the clinical picture, positive tuberculin test and positive BCG (bacillus Calmette-Guérin test on the histological sample. Anti-tuberculosis drugs and glucocorticoid replacement led to disappearance of the signs and symptoms. CONCLUSIONS: This is the first description of an association between EIB and Addison's disease. It should be borne in mind that tuberculosis is an important etiological factor for Addison's disease.CONTEXTO: O eritema indurado de Bazin (EIB é considerado uma reação tuberculoide e consiste de nódulos dolorosos recorrentes. O diagnóstico diferencial inclui doenças como vasculite nodular, perniose, poliarterite nodosa e eritema nodoso. RELATO DE CASO: Nós reportamos o caso de uma mulher com EIB que desenvolveu doença de Addison durante tratamento com drogas tuberculostáticas e com boa resposta com reposição de glicocorticoide. O diagnóstico foi realizado pela apresentação clínica, teste tuberculínico positivo e positividade para BCG (bacilo Calmette-Guérin no espécime histológico. A reposição de glicocorticoides e drogas tuberculostáticas levou ao desaparecimento dos sinais e sintomas. CONCLUSÕES: Este é o primeiro caso reportando a associação entre EIB e doença de Addison. Tuberculose é um importante agente etiológico da doença de Addison.

  11. Myasthenia gravis and autoimmune Addison disease in a patient with thymoma. (United States)

    Seker, Mesut; Gozu, Hulya Iliksu; Oven Ustaalioğlu, Bala Basak; Sonmez, Berkant; Erkal, Fatih Yavuz; Kocak, Mihriban; Barisik, Nagehan Ozdemir; Orbay, Ekrem; Sargin, Mehmet; Sargin, Haluk; Boru, Ulku Turk; Yaylaci, Mustafa


    The association of thymoma with myasthenia gravis has been well documented. However, the relationship between these two syndromes and Addison disease are very rarely encountered in clinical practice. We report on a 32-year-old man who underwent a resection for thymoma 48 months ago. The diagnosis of Addison disease was made followed by a diagnosis of myasthenia gravis on the basis of a high titer of acetylcholine receptor levels. The treatment of oral prednisolone 7.5 mg/day and oral prostigmine 180 mg/day was initiated. His symptoms and physical signs were improved after this treatment. To our knowledge, this is the fourth reported case of thymoma synchronously associated with myasthenia gravis and Addison disease.

  12. Decreased physical activity, reduced QoL and presence of debilitating fatigue in patients with Addison's disease

    NARCIS (Netherlands)

    van der Valk, Eline S.; Smans, Lisanne C C J; Hofstetter, Hedwig; Stubbe, Janine H.; de Vries, Marieke; Backx, Frank J G; Hermus, Ad R M M; Zelissen, Pierre M J

    BACKGROUND: Health related quality of life in patients with Addison's disease has been assessed in various European countries, indicating a reduced quality of life. However, no studies have addressed the impact of Addison's disease on physical activity. OBJECTIVE: The aim of this study was to

  13. Decreased physical activity, reduced QoL and presence of debilitating fatigue in patients with Addison's disease

    NARCIS (Netherlands)

    Valk, E.S. Van der; Smans, L.C.C.J.; Hofstetter, H.; Stubbe, J.H.; Vries, M de; Backx, F.J.; Hermus, A.R.M.M.; Zelissen, P.M.


    BACKGROUND: Health-related quality of life in patients with Addison's disease has been assessed in various European countries, indicating a reduced quality of life. However, no studies have addressed the impact of Addison's disease on physical activity. OBJECTIVE: The aim of this study was to

  14. Decreased physical activity, reduced QoL and presence of debilitating fatigue in patients with Addison's disease

    NARCIS (Netherlands)

    Valk, E.S. van der; Smans, L.C.C.J.; Hofstetter, H.; Stubbe, J.H.; Vries, M. de; Backx, F.J.G.; Hermus, A.R.M.M.; Zelissen, P.M.J.


    Background: Health-related quality of life in patients with Addison's disease has been assessed in various European countries, indicating a reduced quality of life. However, no studies have addressed the impact of Addison's disease on physical activity. Objective: The aim of this study was to

  15. Effects of glucose infusion on neuroendocrine and cognitive parameters in Addison disease. (United States)

    Klement, Johanna; Hubold, Christian; Hallschmid, Manfred; Loeck, Cecilia; Oltmanns, Kerstin M; Lehnert, Hendrik; Born, Jan; Peters, Achim


    Sucrose intake has been shown to suppress increased adrenocorticotropic hormone (ACTH) levels in adrenalectomized rats, suggesting that increased cerebral energy supply can compensate for the loss of glucocorticoid feedback inhibition of the hypothalamo-pituitary-adrenal axis. We hypothesized that glucose infusion might acutely down-regulate increased ACTH secretion in patients with Addison disease. We studied 8 patients with primary adrenal insufficiency (Addison group) with short-term discontinuation of hydrocortisone substitution and 8 matched healthy controls in 2 randomized conditions. Subjects received either intravenous glucose infusion (0.75 g glucose per kilogram body weight for 2.5 hours) or placebo. Concentrations of ACTH, cortisol, catecholamines, growth hormone, glucagon, and insulin were measured; and cognitive functions as well as neuroglycopenic and autonomic symptoms were assessed. The ACTH concentrations were not affected by glucose infusion either in the Addison or in the control group. Likewise, concentrations of cortisol, epinephrine, norepinephrine, growth hormone, and glucagon remained unchanged in both groups. Neurocognitive performance and symptom scores were likewise not affected. Independent of glucose infusion, attention of the Addison patients was impaired in comparison with the control group. Our study in patients with Addison disease was not able to support the assumption of a compensatory effect of intravenous glucose infusion on hormonal parameters and neurocognitive symptoms in states of chronic cortisol deficiency. Further studies should examine whether different regimens of glucose administration are more effective.

  16. High-calorie glucose-rich food attenuates neuroglycopenic symptoms in patients with Addison's disease. (United States)

    Klement, Johanna; Hubold, Christian; Cords, Hannah; Oltmanns, Kerstin M; Hallschmid, Manfred; Born, Jan; Lehnert, Hendrik; Peters, Achim


    Patients with Addison's disease often suffer from fatigue, faintness, lack of concentration, and memory deficits, i.e. symptoms reminiscent of those of neuroglycopenia. Suspecting that a lack of central nervous glucose contributes to these symptoms, we examined whether they can be attenuated by the intake of palatable food rich in glucose ("comfort food") in these patients and, furthermore, whether comfort food reduces hypothalamus-pituitary-adrenal axis activity as observed in animal studies. Design/Setting/Patients/Outcome: Ten Addison patients with primary adrenal insufficiency and acutely discontinued cortisol substitution and 10 matched healthy controls each participated in two experimental sessions in which they were offered a free-choice high-calorie buffet (comfort food) and green salad, respectively, after a mental stress test. Neuroglycopenic and autonomic symptoms, cognitive function (short-term memory, attention), and hormones of the sympathoadrenal system (ACTH, cortisol, catecholamines) were assessed throughout the sessions. Scores of neuroglycopenic symptoms were persistently higher in Addison patients than in controls and were improved by comfort food in comparison to salad (P comfort food, as was memory (each P comfort food reduces symptoms of neuroglycopenia in Addison patients, suggesting that Addison's disease is associated with a deficit in cerebral energy supply that can partly be alleviated by intake of palatable food. It will be important to investigate whether additional oral glucose supply may be helpful in improving patients' well-being.

  17. Refractory major depression successfully treated with electroconvulsive therapy in a patient with Addison disease. (United States)

    Heijnen, Willemijn T C J; Pluijms, Esther M; Birkenhager, Tom K


    This report describes a 55-year-old woman who had 1 previous episode of major depression that responded favorably to treatment with tricyclic antidepressants. After the development of Addison disease, she experienced a new episode of major depression that failed to respond to adequate treatment with imipramine and was subsequently successfully treated with electroconvulsive therapy (ECT) with steroid cover. The patient did not experience adrenal crisis or adverse effects. After 9 ECT sessions, she attained full remission. These findings support the suggestion that ECT treatment is safe in patients with Addison disease when using 100 mg intravenous hydrocortisone as prophylaxis.

  18. From Appearance of Adrenal Autoantibodies to Clinical Symptoms of Addison's Disease: Natural History. (United States)

    Betterle, Corrado; Garelli, Silvia; Presotto, Fabio; Furmaniak, Jadwiga


    Recent progress in the immunopathology field has greatly improved our understanding of the natural history of autoimmune diseases, particularly of Addison's disease. Addison's disease is known to be a chronic illness characterized by adrenocortical gland insufficiency that develops following a long and mainly asymptomatic period, characterized by the presence of circulating autoantibodies directed to adrenal cortex antigens. In this chapter we describe the groups of subjects at risk of developing Addison's disease, together with the diagnostic tests considered the most appropriate for evaluating adrenal function: determination of basal plasma adrenocorticotropic hormone (ACTH) levels, plasma renin activity, plasma aldosterone and cortisol levels, and cortisol levels after intravenous stimulation with ACTH (ACTH test). The employment of specific clinical, immunological and functional criteria in the subjects with autoantibodies to the adrenal cortex allows identifying those at risk of developing overt disease. The independent risk factors for the progression to adrenal failure have also been identified and they contribute to different risks of developing clinical Addison's disease. Based on the risk level, the subjects should be monitored over time to observe early signs of adrenal dysfunction, and start substitutive treatment as soon as possible. For patients presenting with high risk, prevention strategies and trials might be available. © 2016 S. Karger AG, Basel.

  19. Tuberculous Addison's disease: Morphological and quantitative evaluation with multidetector-row CT

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    Ma Ensen [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Yang Zhigang [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China) and National Key Laboratory of Biotherapy Center, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China)]. E-mail:; Li Yuan [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Guo Yingkun [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Deng Yuping [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Zhang Xiaochun [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China)


    Objective: To determine the characteristics of tuberculous Addison's disease on the axial and multiplanar reformatted (MPR) images of the multidetector-row computed tomography (MDCT). Materials and methods: The unenhanced and contrast-enhanced MDCT features in 19 patients with tuberculous Addison's disease were retrospectively assessed for the location, contour, size, calcification, attenuation, and enhancement patterns. The correlation between the duration of Addison's disease and the percentage of calcification presence was evaluated. Results: The adrenal glands were infected bilaterally in all of the 19 cases (100%, 38 glands). Enlargement of the glands appeared in 18 cases (94.7%, 36 glands) and the remaining one case (5.3%, two glands) showed atrophy bilaterally. Of the 36 enlarged adrenals, 13 (36.1%) had preserved contours, and the other 23 (63.9%) were mass-like. The size of the adrenals ranged from 0.6 to 4.8cm (mean 1.92+/-0.96cm). Calcification was revealed in 16 adrenals (16/38, 42.1%), increasing in incidence with disease progression. Fourteen of the 36 (38.9%) enlarged adrenals showed peripheral enhancement while the remaining 22 (61.1%) demonstrated heterogeneous enhancement. The {delta}CT value, the attenuation measurement of mass-like lesions, was less in the central area (7+/-4HU) than that in the peripheral area (32+/-14HU) (P<0.01) between the unenhanced and contrast-enhanced scan. Conclusion: MDCT can reveal the characteristic morphology and CT attenuation in the tuberculous Addison's disease. Combined with its clinical presentations and biochemical findings, we can diagnose and stage adrenal tuberculosis with high specificity and accuracy on MDCT.

  20. Prolonged Dyspnea after Interscalene Block: Attributed to Undiagnosed Addison's Disease and Myasthenia Gravis

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    John G. Skedros


    Full Text Available This report describes a patient who had a series of daily interscalene nerve blocks to treat pain following a shoulder manipulation for postsurgical stiffness. She experienced acute respiratory compromise that persisted for many weeks. All typical and unusual causes of these symptoms were ruled out. Her treating pulmonologist theorized that the ipsilateral carotid body had been injured. However, it was subsequently determined that the constellation of symptoms and their prolonged duration were best explained by a poor stress response from Addison's disease coupled with exacerbation of early onset myasthenia gravis. This patient's case is not a typical reaction to interscalene nerve blocks, and thus preoperative testing would not be recommended for myasthenia gravis or Addison's disease without underlying suspicion. We describe this report to inform physicians to consider a workup for these diagnoses if a typical workup rules out all usual causes of complications from an interscalene block.

  1. Adrenal Steroidogenesis after B Lymphocyte Depletion Therapy in New-Onset Addison's Disease (United States)

    Mitchell, Anna L.; Bennett, Stuart; King, Phil; Chandran, Sukesh; Nag, Sath; Chen, Shu; Smith, Bernard Rees; Isaacs, John D.; Vaidya, Bijay


    Context: A diagnosis of Addison's disease means lifelong dependence on daily glucocorticoid and mineralocorticoid therapy and is associated with increased morbidity and mortality as well as a risk of unexpected adrenal crisis. Objective: The objective of the study was to determine whether immunomodulatory therapy at an early stage of autoimmune Addison's disease could lead to preservation or improvement in adrenal steroidogenesis. Design and Intervention: This was an open-label, pilot study of B lymphocyte depletion therapy in new-onset idiopathic primary adrenal failure. Doses of iv rituximab (1 g) were given on d 1 and 15, after pretreatment with 125 mg iv methylprednisolone. Patients and Main Outcome Measures: Six patients (aged 17–47 yr; four females) were treated within 4 wk of the first diagnosis of idiopathic primary adrenal failure. Dynamic testing of adrenal function was performed every 3 months for at least 12 months. Results: Serum cortisol levels declined rapidly and were less than 100 nmol/liter (3.6 μg/dl) in all patients by 3 months after B lymphocyte depletion. Serum cortisol and aldosterone concentrations remained low in five of the six patients throughout the follow-up period. However, a single patient had sustained improvement in both serum cortisol [peak 434 nmol/liter (15.7 μg/dl)] and aldosterone [peak 434 pmol/liter (15.7 ng/dl)] secretion. This patient was able to discontinue steroid medications 15 months after therapy and remains well, with improving serum cortisol levels 27 months after therapy. Conclusion: New-onset autoimmune Addison's disease should be considered as a potentially reversible condition in some patients. Future studies of immunomodulation in autoimmune Addison's disease may be warranted. PMID:22767640

  2. Addison's disease symptoms--a cross sectional study in urban South Africa.

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    Ian Louis Ross

    Full Text Available BACKGROUND: Addison's disease is a potentially life-threatening disorder, and prompt diagnosis, and introduction of steroid replacement has resulted in near normal life-expectancy. There are limited data describing the clinical presentation of Addison's disease in South Africa. It is hypothesised that patients may present in advanced state of ill-health, compared to Western countries. PATIENTS: A national database of patients was compiled from primary care, referral centres and private practices. 148 patients were enrolled (97 white, 34 mixed ancestry, 5 Asian and 12 black. METHODS: Demographic and clinical data were elicited using questionnaires. Biochemical data were obtained from folder reviews and laboratory archived results. RESULTS: The majority of the cohort was women (62%. The median and inter-quartile age range (IQR of patients at enrolment was 46.0 (32.0-61.0 years, with a wide range from 2.8-88.0 years. The median and IQR age at initial diagnosis was 34.0 (20.0-45.0 years (range 0.02-77.0 years, indicating that at the time of enrolment, the patients, on average, were diagnosed with Addison's disease 12 years previously. Hyperpigmentation was observed in 76%, nausea and vomiting occurred in more than 40%, and weight loss was noted in 25%. Loss of consciousness as a presenting feature was recorded in 20%. with a 95% confidence interval [CI] of (14-28% and shock occurred in 5% CI (1.5-8.5%. Case-finding was recorded at 3.1 per million. CONCLUSIONS: The usual constellation of hyperpigmentation, nausea, vomiting and weight loss suggests Addison's disease, but a significant proportion present with an advanced state of ill-health and Addisonian crises. A lower prevalence rate, compared to Western countries is suggested.

  3. Addison's disease in type 1 diabetes presenting with recurrent hypoglycaemia


    McAulay, V.; Frier, B


    Primary adrenal insufficiency (Addison's disease) often develops insidiously. Although a rare disorder, it is more common in type 1 diabetes mellitus. A 19 year old male with type 1 diabetes and autoimmune hypothyroidism experienced recurrent severe hypoglycaemia over several months, despite a reduction in insulin dose, culminating in an adrenal crisis. Recurrent severe hypoglycaemia resolved after identification and treatment of the adrenocortical insufficiency. In type 1 diabetes, undiagnos...

  4. Management of hypertension and heart failure in patients with Addison's disease. (United States)

    Inder, Warrick J; Meyer, Caroline; Hunt, Penny J


    Addison's disease may be complicated by hypertension and less commonly by heart failure. We review the pathophysiology of the renin-angiotensin-aldosterone axis in Addison's disease and how this is altered in the setting of hypertension and heart failure. An essential first step in management in both conditions is optimizing glucocorticoid replacement and considering dose reduction if excessive. Following this, if a patient with Addison's disease remains hypertensive, the fludrocortisone dose should be reviewed and reduced if there are clinical and/or biochemical signs of mineralocorticoid excess. In the absence of such signs, where the renin is towards the upper end of the normal range or elevated, an angiotensin II (AII) receptor antagonist or angiotensin converting enzyme (ACE) inhibitor is the treatment of choice, and the fludrocortisone dose should remain unchanged. Dihydropyridine calcium channel blockers are clinically useful as second line agents, but diuretics should be avoided. In the setting of heart failure, there is an increase in total body sodium and water; therefore, it is appropriate to reduce and rarely consider ceasing the fludrocortisone. Loop diuretics may be used, but not aldosterone antagonists such as spironolactone or eplerenone. Standard treatment with ACE inhibitors, or as an alternative, AII receptor antagonists, are appropriate. Measurements of renin are no longer helpful in heart failure to determine the volume status but plasma levels of brain natriuretic peptide (BNP/proBNP) may help guide therapy. © 2014 John Wiley & Sons Ltd.

  5. Liquorice and soy sauce, a life-saving concoction in a patient with Addison's disease. (United States)

    Cooper, H; Bhattacharya, B; Verma, V; McCulloch, A J; Smellie, W S A; Heald, A H


    Addison's disease is a relatively common disorder to endocrinologists, but is rare and potentially fatal when presenting acutely. Treatment now involves replacement of glucocorticoids and mineralocorticoids with synthetic compounds, although historically patients took common salt and plant-based preparations. We describe the case of a 42-year-old woman who self-treated undiagnosed Addison's disease for several years with soy sauce and liquorice sticks. She presented with a four-week history of decreased energy, malaise and postural dizziness. Our patient described an unusual diet of liquorice sticks and soy sauce, consuming around 46 g of salt per week. There was a family history of Type 1 diabetes mellitus. Physical examination was unremarkable, although subsequent investigation confirmed Addison's disease. Liquorice provided glycyrrhizic acid and glycyrrhetinic acid, which act on 11-beta hydroxysteroid dehydrogenase enzymes. In this case, the net effect was potentiation of glucocorticoid action on renal mineralocorticoid receptors in the context of failing adrenocortical steroid production. The case highlights the importance of taking a dietary history to aid diagnosis.

  6. Addison's disease presenting with idiopathic intracranial hypertension in 24-year-old woman: a case report

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    Moore Peter


    Full Text Available Abstract Introduction Idiopathic intracranial hypertension can rarely be associated with an underlying endocrine disorder such as Cushing's syndrome, hyperthyroidism, or with administration of thyroxine or growth hormone. Though cases of idiopathic intracranial hypertension associated with Addison's disease in children have been reported, there is only one documented case report of this association in adults. We describe a case of an acute adrenal insufficiency precipitated by idiopathic intracranial hypertension in a Caucasian female. Case presentation A 24-year-old Caucasian woman was acutely unwell with a background of several months of generalised fatigue and intermittent headaches. She had unremarkable neurological and systemic examination with a normal computerised tomography and magnetic resonance imaging of the brain. Normal cerebrospinal fluid but increased opening pressure at lumbar puncture suggested intracranial hypertension. A flat short synacthen test and raised level of adrenocorticotrophic hormone were consistent with primary adrenal failure. Conclusion Addison's disease can remain unrecognised until precipitated by acute stress. This case suggests that idiopathic intracranial hypertension can rarely be associated with Addison's disease and present as an acute illness. Idiopathic intracranial hypertension is possibly related to an increase in the levels of arginine vasopressin peptide in serum and cerebrospinal fluid secondary to a glucocorticoid deficient state.

  7. Coma hiponatrêmico como manifestação de doença de Addison Hyponatremic coma as a manifestation of Addison's disease

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    Paulo S.M. Esperon


    Full Text Available OBJETIVO: alertar sobre a importância de distúrbio hidroeletrolítico grave devido a doença crônica não previamente diagnosticada. MÉTODO: relato de um caso de coma hiponatrêmico devido a crise adrenal em criança portadora de doença de Addison não diagnosticada previamente, apesar de história clínica sugestiva desta doença há cerca de quatro anos. RESULTADO: Após atendimento inicial à emergência, com correção da hiponatremia grave com hipovolemia discreta, hipernatriúria e hiperpotassemia, o diagnóstico diferencial deste distúrbio hidroeletrolítico revelou tratar-se de uma crise adrenal secundária a uma insuficiência adrenal primária crônica. O tratamento com hidrocortisona oral possibilitou alta hospitalar com correção total dos distúrbios metabólicos. CONCLUSÃO: é importante manter um alto grau de suspeita de doença de Addison para evitar as graves conseqüências de seu diagnóstico tardio, como distúrbios hidroeletrolíticos graves, além de atraso de crescimento e desenvolvimento.OBJECTIVE: To show the importance of severe hydroelectrolytic disorder as a consequence of previously undiagnosed chronic disease. DESCRIPTION: Case report of hyponatremic coma caused by adrenal crisis in a child with previously undiagnosed Addison's disease despite suggestive clinical findings of this disease in the last four years. After correction of severe hyponatremia, mild hypovolemia, hypernatriuria and hyperkalemia, the differential diagnosis of this hydroelectrolytic disorder revealed an adrenal crisis resulting from a primary chronic adrenal insufficiency. Oral treatment with hydrocortisone was efficient in correcting the metabolic disorder and the patient was then discharged. COMMENTS: It is very important to highly suspect of Addison's disease in order to avoid the dangerous consequences of late diagnosis such as severe hydroelectrolytic disorders and retarded growth and development.

  8. Unusual association of thyroiditis, Addison's disease, ovarian failure and celiac disease in a young woman. (United States)

    Valentino, R; Savastano, S; Tommaselli, A P; Dorato, M; Scarpitta, M T; Gigante, M; Lombardi, G; Troncone, R


    The coexistence of autoimmune endocrine diseases, particularly autoimmune thyroid disease and celiac disease (CD), has recently been reported. We here present a 23-year-old woman with a diagnosis of hypothyroidism due to Hashimoto's thyroiditis, autoimmune Addison's disease, and kariotypically normal spontaneous premature ovarian failure. Considering the close association between autoimmune diseases and CD, we decided to search for IgA anti-endomysium antibodies (EmA) in the serum. The positivity of EmA and the presence of total villous atrophy at jejunal biopsy allowed the diagnosis of CD. On a gluten-free diet the patient showed a marked clinical improvement accompanied, over a 3-month period, by a progressive decrease in the need for thyroid and adrenal replacement therapies. After 6 months, serum EmA became negative and after 12 months a new jejunal biopsy showed complete mucosal recovery. After 18 months on gluten-free diet, the anti-thyroid antibodies titre decreased significantly, and we could discontinue thyroid substitutive therapy. This case emphasizes the association between autoimmune polyglandular disease and CD; the precocious identification of these cases is clinically relevant not only for the high risk of complications (e.g. lymphoma) inherent to untreated CD, but also because CD is one of the causes for the failure of substitute hormonal therapy in patients with autoimmune thyroid disease.

  9. Detection of adrenocortical autoantibodies in Addison's disease with a peroxidase-labelled protein A technique

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    R.C. Silva


    Full Text Available Adrenocortical autoantibodies (ACA, present in 60-80% of patients with idiopathic Addison's disease, are conventionally detected by indirect immunofluorescence (IIF on frozen sections of adrenal glands. The large-scale use of IIF is limited in part by the need for a fluorescence microscope and the fact that histological sections cannot be stored for long periods of time. To circumvent these restrictions we developed a novel peroxidase-labelled protein A (PLPA technique for the detection of ACA in patients with Addison's disease and compared the results with those obtained with the classical IIF assay. We studied serum samples from 90 healthy control subjects and 22 patients with Addison's disease, who had been clinically classified into two groups: idiopathic (N = 13 and granulomatous (N = 9. ACA-PLPA were detected in 10/22 (45% patients: 9/13 (69% with the idiopathic form and 1/9 (11% with the granulomatous form, whereas ACA-IIF were detected in 11/22 patients (50%: 10/13 (77% with the idiopathic form and 1/9 (11% with the granulomatous form. Twelve of the 13 idiopathic addisonians (92% were positive for either ACA-PLPA or ACA-IIF, but only 7 were positive by both methods. In contrast, none of 90 healthy subjects was found to be positive for ACA. Thus, our study shows that the PLPA-based technique is useful, has technical advantages over the IIF method (by not requiring the use of a fluorescence microscope and by permitting section storage for long periods of time. However, since it is only 60% concordant with the ACA-IIF method, it should be considered complementary instead of an alternative method to IIF for the detection of ACA in human sera.

  10. Moderate Dose Inhaled Budesonide Disguising Symptoms of Addison's Disease in An Asthmatic Boy with Silent Celiac Disease (United States)

    Stenhammar, Lars C.; Högberg, Lotta M.; Nordwall, Maria; Strömberg, Leif G. E.


    Inhaled corticosteroids are first-line treatment for asthma. Moderate doses of budesonide have been supposed not to affect hypothalamic-pituitary-adrenal axis function. We report the case of a boy with asthmatic symptoms and a late diagnosis of celiac disease, in whom inhaled budesonide in a dose used in conventional asthma therapy seems to have been systemically absorbed in amounts large enough to temporarily disguise the symptoms of a developing adrenal insufficiency. Inhaled corticosteroids in a dose used in standard asthma therapy seem to have the potential of disguising a developing Addison's disease. Furthermore, celiac disease, especially if diagnosed in late childhood, may be associated with Addison's disease causing a complex symptom pattern. PMID:23118631


    Olafsson, Andri Snaer; Sigurjonsdottir, Helga Agusta


    Primary adrenal insufficiency is a life-threatening endocrine disease unless properly treated. However, few studies on the prevalence, concomitances of the disease, and prescribing of drugs have been published. The goal of the study was to establish the prevalence of primary adrenal insufficiency in Iceland and additionally, to study the most common concomitant diseases in patients with primary adrenal insufficiency, as well as the mode of glucocorticoid replacement therapies. To achieve this, the medical records of all patients in Iceland who had received the International Classification of Diseases and Related Health Problems, 10th Revision, diagnosis code E27, were evaluated for true primary adrenal insufficiency. Additionally, these records were evaluated for concomitant diseases, as well as the mode of glucocorticoid replacement therapy. The study covered the whole population of Iceland over 18 years of age. It was thus a nationwide study. The records were retrieved from large hospitals and clinics and every practicing specialist in endocrinology. Primary adrenal insufficiency was found in 53 individuals, 26 women and 27 men, yielding a prevalence of 22.1 per 100,000 population. Hypothyroidism was by far the most common concomitant disease. Most patients had their glucocorticoid deficiency replaced with short-acting glucocorticoids. The prevalence of primary adrenal insufficiency in Iceland is higher than in earlier reports, with comorbidities being in line with recent studies. Treatment is according to the latest protocols.

  12. Adrenoleukodystrophy: a forgotten diagnosis in children with primary Addison's disease. (United States)

    Nascimento, Marta; Rodrigues, Nádia; Espada, Filipa; Fonseca, Marcelo


    The X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28 leading to accumulation of very long chain fatty acids (VLCFA), progressive demyelination and adrenal insufficiency. An 8-year-old boy was referred to our paediatric endocrinology clinic due to fatigue and hyperpigmentation with onset at 2-years old. Blood tests revealed mineralocorticoid insufficiency. Serum adrenocorticotropic hormone and cortisol concentrations were compatible with adrenal insufficiency. Adrenal antibodies were negative. The elevated plasmatic concentration of VLCFA and the genotype analysis with sequencing of ABCD1 gene established the diagnosis of X-ALD. Brain MRI showed demyelination of white matter in the peritrigonal regions. Steroid replacement was started with good response. He initiated restriction of VLCFA by reducing the intake of fatty foods. The authors highlight the importance of suspecting of X-ALD in the aetiology of primary adrenal insufficiency as the first sign of the disease.

  13. Adrenoleukodystrophy: a forgotten diagnosis in children with primary Addison's disease (United States)

    Nascimento, Marta; Rodrigues, Nádia; Espada, Filipa; Fonseca, Marcelo


    The X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28 leading to accumulation of very long chain fatty acids (VLCFA), progressive demyelination and adrenal insufficiency. An 8-year-old boy was referred to our paediatric endocrinology clinic due to fatigue and hyperpigmentation with onset at 2-years old. Blood tests revealed mineralocorticoid insufficiency. Serum adrenocorticotropic hormone and cortisol concentrations were compatible with adrenal insufficiency. Adrenal antibodies were negative. The elevated plasmatic concentration of VLCFA and the genotype analysis with sequencing of ABCD1 gene established the diagnosis of X-ALD. Brain MRI showed demyelination of white matter in the peritrigonal regions. Steroid replacement was started with good response. He initiated restriction of VLCFA by reducing the intake of fatty foods. The authors highlight the importance of suspecting of X-ALD in the aetiology of primary adrenal insufficiency as the first sign of the disease. PMID:22914231

  14. Histopathologic Findings of Cutaneous Hyperpigmentation in Addison Disease and Immunostain of the Melanocytic Population. (United States)

    Fernandez-Flores, Angel; Cassarino, David S


    The histopathological features of cutaneous hyperpigmentation in Addison disease have very occasionally been reported, and they include acanthosis, hyperkeratosis, focal parakeratosis, spongiosis, superficial perivascular lymphocytic infiltrate, basal melanin hyperpigmentation, and superficial dermal melanophages. We present a study on 2 biopsies from the arm and the thigh in a 77-year-old woman with a long clinical history of Addison disease as well as senile purpura and alopecia of female pattern. The patient presented diffuse hyperpigmentation of the skin, more pronounced on her face, and left upper forehead. The skin biopsies showed no remarkable dermal inflammatory infiltrate with melanocytic hyperpigmentation of the basal layer of the epidermis as well as a mild amount of melanophages in the papillary dermis. In addition, we found lipofuscin in the luminal pole of the secretory epithelium of the eccrine glands. In the perieccrine areas, there was Perls-positive pigment in the cytoplasm of macrophages most likely related to the senile purpura. An immunohistochemical study with Melan-A showed a melanocyte/keratinocyte ratio of 1:20 (5%) in the arm and of less than 1:50 (only 2 melanocytes in the whole section; <2%) in the thigh.

  15. Severe neuroinvasive West Nile virus infection in a child with undiagnosed Addison's disease

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    Kevin Messacar


    Full Text Available This report describes a case of West Nile virus (WNV meningoencephalitis in a child who presented with fever, headache, seizures, and altered mental status, as well as hyponatremia and bronzing of the skin. Findings that led to the diagnosis of WNV included plasma-cell pleocytosis of the cerebrospinal fluid (CSF and linear chorioretinitis on ophthalmologic exam. The diagnosis was confirmed by a positive serum and CSF WNV IgM. The acute WNV infection triggered an adrenal crisis which uncovered a new diagnosis of underlying Addison's disease. This is the first case report of severe neuroinvasive WNV disease in a pediatric patient with primary adrenal insufficiency. Neuroinvasive WNV disease is uncommon in children, but may have a more severe presentation in those with certain underlying medical conditions.

  16. Addison disease (United States)

    ... cortisol level Low sodium level Low pH Normal testosterone and estrogen levels, but low DHEA level High ... Wisse, MD, Associate Professor of Medicine, Division of Metabolism, Endocrinology & Nutrition, University of Washington School of Medicine, ...

  17. Clinical and Immunological Characteristics of Autoimmune Addison Disease: A Nationwide Swedish Multicenter Study. (United States)

    Dalin, Frida; Nordling Eriksson, Gabriel; Dahlqvist, Per; Hallgren, Åsa; Wahlberg, Jeanette; Ekwall, Olov; Söderberg, Stefan; Rönnelid, Johan; Olcén, Per; Winqvist, Ola; Catrina, Sergiu-Bogdan; Kriström, Berit; Laudius, Maria; Isaksson, Magnus; Halldin Stenlid, Maria; Gustafsson, Jan; Gebre-Medhin, Gennet; Björnsdottir, Sigridur; Janson, Annika; Åkerman, Anna-Karin; Åman, Jan; Duchen, Karel; Bergthorsdottir, Ragnhildur; Johannsson, Gudmundur; Lindskog, Emma; Landin-Olsson, Mona; Elfving, Maria; Waldenström, Erik; Hulting, Anna-Lena; Kämpe, Olle; Bensing, Sophie


    Studies of the clinical and immunological features of autoimmune Addison disease (AAD) are needed to understand the disease burden and increased mortality. To provide upgraded data on autoimmune comorbidities, replacement therapy, autoantibody profiles, and cardiovascular risk factors. A cross-sectional, population-based study that included 660 AAD patients from the Swedish Addison Registry (2008-2014). When analyzing the cardiovascular risk factors, 3594 individuals from the population-based survey in Northern Sweden, MONICA (monitoring of trends and determinants of cardiovascular disease), served as controls. The endpoints were the prevalence of autoimmune comorbidities and cardiovascular risk factors. Autoantibodies against 13 autoantigens were determined. The proportion of 21-hydroxylase autoantibody-positive patients was 83%, and 62% of patients had ≥1 associated autoimmune diseases, more frequently coexisting in females (P < 0.0001). AAD patients had a lower body mass index (P < 0.0001) and prevalence of hypertension (P = 0.027) compared with controls. Conventional hydrocortisone tablets were used by 89% of the patients, with a mean dose of 28.1 ± 8.5 mg/d. The mean hydrocortisone equivalent dose normalized to the body surface was 14.8 ± 4.4 mg/m2/d. A greater hydrocortisone equivalent dose was associated with a greater incidence of hypertension (P = 0.046). Careful monitoring of AAD patients is warranted to detect associated autoimmune diseases. Contemporary Swedish AAD patients did not have an increased prevalence of overweight, hypertension, type 2 diabetes mellitus, or hyperlipidemia. However, high glucocorticoid replacement doses could be a risk factor for hypertension.

  18. Salivary cortisol day curves in Addison's disease in patients on hydrocortisone replacement. (United States)

    Ross, I L; Levitt, N S; Van der Walt, J S; Schatz, D A; Johannsson, G; Haarburger, D H; Pillay, T S


    Using salivary cortisol (SC) measurements, cortisol exposure in Addison's disease patients on hydrocortisone replacement was determined and compared with healthy controls. Cortisol pharmacokinetics was assessed in 31 patients with Addison's disease on replacement hydrocortisone doses (median daily dose 20 mg; range 5-50 mg) and 30 healthy control subjects. Saliva samples (n=16) were collected between 08:00 and 00:00 h in 1 day, using a passive drool technique. Cortisol exposure was evaluated by noncompartmental approach. In the patients, cortisol exposure was significantly higher than in controls: median inter-quartile range (IQR) peak cortisol (C(max)) 174.5 (59.3-837.0) vs. 6.50 (4.7-19.3) nmol/l, p=0.0001; area under the curve (AUC) 390.1 (177.1-928.9) vs. 21.4 (14.6-28.4) minutes*nmol/l, p=0.0001, trough cortisol level (C(min)) 0.49 (0.49-0.96) vs. 0.49 (0.49-0.49) nmol/l, p=0.02, occurring at 480.0 (0.1-660.0) vs. 405.0 (180.0-570.0) min, p=0.56. First peak cortisol was 174.5 (53.0-754.7) vs. 6.27 (3.90-8.47) nmol/l, p=0.0001 and second peak cortisol 18.90 (5.22-76.9) vs. 3.12 (1.76-4.79) nmol/l, p=0.0001. The time to first peak cortisol differed between the 2 groups, 30 (30-75) vs. 0.1 (0.1-30) minutes; p=0.0001. At doses studied, hydrocortisone replacement therapy results in cortisol pharmacokinetics being markedly different from endogenous cortisol profiles in healthy control subjects. Addison's disease patients had significantly higher SC levels compared to healthy control subjects. © Georg Thieme Verlag KG Stuttgart · New York.


    Vrkljan, Ana Marija; Pašalić, Ante; Strinović, Mateja; Perić, Božidar; Kruljac, Ivan; Miroševć, Gorana


    A case of autoimmune polyglandular syndrome (APS) is presented. A 45-year-old man was admitted due to fatigue, malaise and inappetence. He had a history of primary hypothyroidism and was on levothyroxine substitution therapy. One year before, he was diagnosed with normocytic anemia and vitamin B12 deficiency, which was treated with vitamin B12 substitution therapy. Physical examination revealed hypotension and marked hyperpigmentation. Laboratory testing showed hyponatremia, hyperkaliemia and severe normocytic anemia. Endocrinological evaluation disclosed low morning cortisol and increased adrenocorticotropic hormone levels. Hence, the diagnosis of Addison's disease was established. Additional laboratory workup showed positive parietal cell antibodies. However, his vitamin B12 levels were increased due to vitamin B12 supplementation therapy, which was initiated earlier. Gastroscopy and histopathology of gastric mucosa confirmed atrophic gastritis. Based on prior low serum vitamin B12 levels, positive parietal cell antibodies and atrophic gastritis, the patient was diagnosed with pernicious anemia. Hydrocortisone supplementation therapy was administered and titrated according to urinary-free cortisol levels. Electrolyte disbalance and red blood cell count were normalized. This case report demonstrates rather unique features of pernicious anemia in a patient with Addison's disease. It also highlights the link between type II and type III APS. Not only do they share the same etiological factors, but also overlap in pathophysiological and clinical characteristics. This case report favors older classification of APS, which consolidates all endocrine and other organ-specific autoimmune diseases into one category. This is important since it might help avoid pitfalls in the diagnosis and treatment of patients with APS.

  20. Coexistence of Cushing syndrome from functional adrenal adenoma and Addison disease from immune-mediated adrenalitis. (United States)

    Colucci, Randall; Jimenez, Rafael E; Farrar, William; Malgor, Ramiro; Kohn, Leonard; Schwartz, Frank L


    A 56-year-old woman presented with an incidental adrenal adenoma and physical examination findings that included moderate obesity, a slight cervicothoracic fat pad ("buffalo hump"), increased supraclavicular fat pads, and white abdominal striae. Biochemical workup revealed elevated levels of 24-hour urinary free cortisol but normal serum morning cortisol and suppressed levels of corticotropin, suggestive of adrenal-dependent Cushing syndrome. The resected adrenal gland revealed macronodular cortical hyperplasia with a dominant nodule. Other findings included an absent cortisol response to corticotropin stimulation, presence of serum anti-21-hydroxylase antibodies, and mononuclear cell infiltration--consistent with adrenalitis. The findings represent, to the authors' knowledge, the first known case of a patient with coexistent functional cortisol-secreting macronodular adrenal tumor resulting in Cushing syndrome and immune-mediated adrenalitis resulting in Addison disease.

  1. New onset Addison's disease presenting as prolonged hyperemesis in early pregnancy. (United States)

    Lewandowski, Krzysztof; Hincz, Piotr; Grzesiak, Mariusz; Cajdler-Łuba, Agata; Salata, Ireneusz; Wilczyński, Jan; Lewiński, Andrzej


    A 32-year-old Caucasian was admitted at 14 weeks of gestation with hypotension and weight loss. Family members noted that she appeared "tired" prior to pregnancy Past medical history included primary hypothyroidism treated with thyroxine (100 microg/day). She had a healthy daughter aged 2.5 years who had been born small for gestational age. At about 8 weeks of gestation she started to vomit several times a day. She was treated with antiemetics and intravenous fluids. Following discharge she remained nauseated, weak and lightheaded and lost about 8 kg of weight. After readmission she appeared ill and dehydrated, BMI 16.6 kg/m2, BP 90/60 mmHg supine, 70/50 mmHg upright (with faint-like sensation), normal heart sounds, chest clinically clear, abdomen soft and not tender Investigations revealed severe hyponatraemia (sodium 112 mmol/L), normal potassium level 4.3 mmol/L, normal renal function, TSH 1.31 microIU/mL (reference range (RR): 0.27-4.2), freeT4 1.99 ng/dL (RR: 0.93-1.7), freeT3 3.29 pg/mL (RR: 2.57-4.43), anti-TPO antibodies 467 IU/mL (RR: Addisons disease was made (in view of hypothyroidism as a part of Autoimmune Polyglandular Syndrome type II). She was discharged on hydrocortisone and fludrocortisone replacement. Further during her pregnancy there was about two-week foetal growth delay. She, however delivered a healthy female infant at 36 weeks of gestation. New onset Addison's disease is rare in pregnancy but may present with prolonged vomiting and weight loss. Therefore adrenal failure should be included in the differential diagnosis of hyperemesis gravidarum.

  2. Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison's disease. (United States)

    Winqvist, O; Gustafsson, J; Rorsman, F; Karlsson, F A; Kämpe, O


    Autoimmune polyendocrine syndrome type I (APS I) and idiopathic Addison's disease are both disorders with adrenal insufficiency but with differences in genetic background, clinical presentation, and extent of extraadrenal manifestations. In this study the major adrenal autoantigen identified with sera from patients with APS I was characterized by analyses using indirect immunofluorescence, Western blots of adrenal subcellular fractions and of recombinant proteins, immunoprecipitations of [35S]methionine-labeled lysates of a human steroid-producing cell line, and studies of enzymatic activity. Sera from patients with APS I, identifying cells in adrenal glands and testes involved in steroid synthesis, reacted in Western blots with a 53-kD antigen, which comigrated with the cytochrome P450 cholesterol side chain cleavage enzyme (SCC). The sera also immunoprecipitated this protein from lysates of radiolabeled adrenal cells. The enzymatic activity of SCC was inhibited by the APS I sera but not by control sera. Sera from patients with idiopathic Addison's disease did not react with the SCC. The results show that the autoimmune responses towards adrenal tissue in patients suffering from APS I and Addison's disease are remarkably selective and suggest that a determination of the antigen involved in a patient with autoimmune adrenal insufficiency will have diagnostic as well as prognostic implications. Images PMID:8227354

  3. Insulin gene polymorphisms in type 1 diabetes, Addison's disease and the polyglandular autoimmune syndrome type II

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    Hahner Stefanie


    Full Text Available Abstract Background Polymorphisms within the insulin gene can influence insulin expression in the pancreas and especially in the thymus, where self-antigens are processed, shaping the T cell repertoire into selftolerance, a process that protects from β-cell autoimmunity. Methods We investigated the role of the -2221Msp(C/T and -23HphI(A/T polymorphisms within the insulin gene in patients with a monoglandular autoimmune endocrine disease [patients with isolated type 1 diabetes (T1D, n = 317, Addison's disease (AD, n = 107 or Hashimoto's thyroiditis (HT, n = 61], those with a polyglandular autoimmune syndrome type II (combination of T1D and/or AD with HT or GD, n = 62 as well as in healthy controls (HC, n = 275. Results T1D patients carried significantly more often the homozygous genotype "CC" -2221Msp(C/T and "AA" -23HphI(A/T polymorphisms than the HC (78.5% vs. 66.2%, p = 0.0027 and 75.4% vs. 52.4%, p = 3.7 × 10-8, respectively. The distribution of insulin gene polymorphisms did not show significant differences between patients with AD, HT, or APS-II and HC. Conclusion We demonstrate that the allele "C" of the -2221Msp(C/T and "A" -23HphI(A/T insulin gene polymorphisms confer susceptibility to T1D but not to isolated AD, HT or as a part of the APS-II.

  4. The Treatment of Addison's Disease by Whole Adrenal Gland: (Section of Therapeutics and Pharmacology). (United States)

    Hicks, C S; Mitchell, M L


    By cooling fresh suprarenal gland tissue immediately on removal from the animal, and by defatting, and mincing the same at low temperatures, and drying at 37 degrees C. with the least loss of time, a preparation is obtained which in daily doses of 3 grm. per os, is effective in restoring a large measure of health to sufferers from Addison's disease.It is essential that a potent extract of suprarenal cortex be available for (a) restoring the patient sufficiently to enable whole gland treatment to be instituted and (b) to treat any return of abdominal symptoms or circulatory collapse induced by intercurrent illness or failure to retain the whole gland through vomiting.It is desirable to increase the intake of sodium chloride to 10 to 15 grm. daily.Neither saline alone, nor cortical extract alone produces the same effective result as whole suprarenal gland prepared as above administered per os.Commercial preparations of whole suprarenal can be entirely without effect.Subcutaneous injection of adrenalin in a phase of weakness may have disastrous results.Trials, using the whole gland preparation on normal subjects, further establish the observations of Rowntree, that the gastric musculature is stimulated by injection of whole suprarenal gland. In certain cases, considerable elevation of blood-pressure may also result.

  5. Genome-wide copy number variation (CNV in patients with autoimmune Addison's disease

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    Brønstad Ingeborg


    Full Text Available Abstract Background Addison's disease (AD is caused by an autoimmune destruction of the adrenal cortex. The pathogenesis is multi-factorial, involving genetic components and hitherto unknown environmental factors. The aim of the present study was to investigate if gene dosage in the form of copy number variation (CNV could add to the repertoire of genetic susceptibility to autoimmune AD. Methods A genome-wide study using the Affymetrix GeneChip® Genome-Wide Human SNP Array 6.0 was conducted in 26 patients with AD. CNVs in selected genes were further investigated in a larger material of patients with autoimmune AD (n = 352 and healthy controls (n = 353 by duplex Taqman real-time polymerase chain reaction assays. Results We found that low copy number of UGT2B28 was significantly more frequent in AD patients compared to controls; conversely high copy number of ADAM3A was associated with AD. Conclusions We have identified two novel CNV associations to ADAM3A and UGT2B28 in AD. The mechanism by which this susceptibility is conferred is at present unclear, but may involve steroid inactivation (UGT2B28 and T cell maturation (ADAM3A. Characterization of these proteins may unravel novel information on the pathogenesis of autoimmunity.

  6. Vertebral fractures assessed with dual-energy X-ray absorptiometry in patients with Addison's disease on glucocorticoid and mineralocorticoid replacement therapy. (United States)

    Camozzi, Valentina; Betterle, Corrado; Frigo, Anna Chiara; Zaccariotto, Veronica; Zaninotto, Martina; De Caneva, Erica; Lucato, Paola; Gomiero, Walter; Garelli, Silvia; Sabbadin, Chiara; Salvà, Monica; Costa, Miriam Dalla; Boscaro, Marco; Luisetto, Giovanni


    to assess bone damage and metabolic abnormalities in patients with Addison's disease given replacement doses of glucocorticoids and mineralocorticoids. A total of 87 patients and 81 age-matched and sex-matched healthy controls were studied. The following parameters were measured: urinary cortisol, serum calcium, phosphorus, creatinine, 24-h urinary calcium excretion, bone alkaline phosphatase, parathyroid hormone, serum CrossLaps, 25 hydroxyvitamin D, and 1,25 dihydroxyvitamin D. Clear vertebral images were obtained with dual-energy X-ray absorptiometry in 61 Addison's disease patients and 47 controls and assessed using Genant's classification. Nineteen Addison's disease patients (31.1%) had at least one morphometric vertebral fracture, as opposed to six controls (12.8%, odds ratio 3.09, 95% confidence interval 1.12-8.52). There were no significant differences in bone mineral density parameters at any site between patients and controls. In Addison's disease patients, there was a positive correlation between urinary cortisol and urinary calcium excretion. Patients with fractures had a longer history of disease than those without fractures. Patients taking fludrocortisone had a higher bone mineral density than untreated patients at all sites except the lumbar spine. Addison's disease patients have more fragile bones irrespective of any decrease in bone mineral density. Supra-physiological doses of glucocorticoids and longer-standing disease (with a consequently higher glucocorticoid intake) might be the main causes behind patients' increased bone fragility. Associated mineralocorticoid treatment seems to have a protective effect on bone mineral density.

  7. Addison, pernicious anemia and adrenal insufficiency


    Graner, John L


    In 1849 Thomas Addison described the clinical entity now known as pernicious anemia. In 1855 he reported several cases of adrenal insufficiency, or Addison's disease. Considering the importance of these works, there remains a great deal of confusion about them. Contrary to what many historians have written, a review of Addison's original publications demonstrates a firm appreciation of the distinction between pernicious anemia and adrenal insufficiency, based particularly on the discoloration...

  8. Linkage Analysis in Autoimmune Addison's Disease: NFATC1 as a Potential Novel Susceptibility Locus.

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    Anna L Mitchell

    Full Text Available Autoimmune Addison's disease (AAD is a rare, highly heritable autoimmune endocrinopathy. It is possible that there may be some highly penetrant variants which confer disease susceptibility that have yet to be discovered.DNA samples from 23 multiplex AAD pedigrees from the UK and Norway (50 cases, 67 controls were genotyped on the Affymetrix SNP 6.0 array. Linkage analysis was performed using Merlin. EMMAX was used to carry out a genome-wide association analysis comparing the familial AAD cases to 2706 UK WTCCC controls. To explore some of the linkage findings further, a replication study was performed by genotyping 64 SNPs in two of the four linked regions (chromosomes 7 and 18, on the Sequenom iPlex platform in three European AAD case-control cohorts (1097 cases, 1117 controls. The data were analysed using a meta-analysis approach.In a parametric analysis, applying a rare dominant model, loci on chromosomes 7, 9 and 18 had LOD scores >2.8. In a non-parametric analysis, a locus corresponding to the HLA region on chromosome 6, known to be associated with AAD, had a LOD score >3.0. In the genome-wide association analysis, a SNP cluster on chromosome 2 and a pair of SNPs on chromosome 6 were associated with AAD (P <5x10-7. A meta-analysis of the replication study data demonstrated that three chromosome 18 SNPs were associated with AAD, including a non-synonymous variant in the NFATC1 gene.This linkage study has implicated a number of novel chromosomal regions in the pathogenesis of AAD in multiplex AAD families and adds further support to the role of HLA in AAD. The genome-wide association analysis has also identified a region of interest on chromosome 2. A replication study has demonstrated that the NFATC1 gene is worthy of future investigation, however each of the regions identified require further, systematic analysis.

  9. Impaired quality and efficiency of sleep impairs cognitive functioning in Addison's disease. (United States)

    Henry, Michelle; Ross, Ian Louis; Wolf, Pedro Sofio Abril; Thomas, Kevin Garth Flusk


    Standard replacement therapy for Addison's disease (AD) does not restore a normal circadian rhythm. Periods of sub- and supra- physiological cortisol levels experienced by patients with AD likely induce disrupted sleep. Given that healthy sleep plays an important role in memory consolidation, the novelty of the current study was to characterise, using objective measures, the relationship between sleep and memory in patients with AD, and to examine the hypothesis that poor sleep is a biological mechanism underlying memory impairment in those patients. We used a within-subjects design. Ten patients with AD and 10 matched healthy controls completed standardised neuropsychological tests assessing declarative memory (Rey Auditory Verbal Learning Test) and procedural memory (Finger Tapping Task) before and after a period of actigraphy-measured sleep, and before and after a period of waking. Relative to healthy controls, patients with AD experienced disrupted sleep characterised by poorer sleep efficiency and more time spent awake. Patients also showed impaired verbal learning and memory relative to healthy controls (p=0.007). Furthermore, whereas healthy controls' declarative memory performance benefited from a period of sleep compared to waking (p=0.032), patients with AD derived no such benefit from sleep (p=0.448). Regarding the procedural memory task, analyses detected no significant between-group differences (all p'ssleep-enhanced performance. We demonstrated, using actigraphy and standardized measures of memory performance, an association between sleep disturbances and cognitive deficits in patients with AD. These results suggest that, in patients with AD, the source of memory deficits is, at least to some extent, disrupted sleep patterns that interfere with optimal consolidation of previously-learned declarative information. Hence, treating the sleep disturbances that are frequently experienced by patients with AD may improve their cognitive functioning. Copyright

  10. The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease (United States)

    Gan, Earn H; MacArthur, Katie; Mitchell, Anna L; Pearce, Simon H S


    Background Autoimmune Addison's disease (AAD) is a rare condition with a complex genetic basis. A panel of rare and functionally defective genetic variants in the sialic acid acetylesterase (SIAE) gene has recently been implicated in several common autoimmune conditions. We performed a case–control study to determine whether these rare variants are associated with a rarer condition, AAD. Method We analysed nine SIAE gene variants (W48X, M89V, C196F, C226G, R230W, T312M, Y349C, F404S and R479C) in a United Kingdom cohort of 378 AAD subjects and 387 healthy controls. All samples were genotyped using Sequenom iPlex chemistry to characterise primer extension products. Results A heterozygous rare allele at codon 312 (312*M) was found in one AAD patient (0.13%) but was not detected in the healthy controls. The commoner, functionally recessive variant at codon 89 (89*V) was found to be homozygous in two AAD patients but was only found in the heterozygous state in controls. Taking into account all nine alleles examined, 4/378 (1.06%) AAD patients and 1/387 (0.25%) healthy controls carried the defective SIAE alleles, with a calculated odds ratio of 4.13 (95% CI 0.44–97.45, two-tailed P value 0.212, NS). Conclusion We demonstrated the presence of 89*V homozygotes and the 312*M rare allele in the AAD cohort, but overall, our analysis does not support a role for rare variants in SIAE in the pathogenesis of AAD. However, the relatively small collection of AAD patients limits the power to exclude a small effect. PMID:23011869

  11. Addison disease presenting with acute neurologic deterioration: a rare presentation yields new lessons from old observations in primary adrenal failure. (United States)

    Myers, Kenneth A; Kline, Gregory A


    To report a rare case of Addison disease presenting with acute neurologic deterioration, and to discuss previous reports and illustrative clinical lessons drawn from the case. We detail the clinical presentation and sequence of events leading to diagnosis of Addison disease in a 20-year-old man whose initial symptoms were those of acute neurologic deterioration. A 20-year-old man presented with acute, rapid neurologic deterioration. The patient required intubation, but his condition responded very well to mannitol and dexamethasone. Head computed tomography showed a fourth ventricle reduced in size and basal cistern effacement, changes consistent with mild cerebral edema. Primary adrenal insufficiency was diagnosed after a low morning cortisol concentration prompted a corticotropin-stimulation test and serum aldosterone measurement (undetectable). The diagnosis was almost missed because of suspected confounders of dexamethasone and etomidate use. Subsequently, the patient tested positive for anti-21- hydroxylase antibodies. Cerebral edema rarely occurs with Addison disease and is most likely secondary to hyponatremia. Diagnosis in such cases may be complicated by resuscitative therapies; however, low cortisol levels should always be thoroughly investigated. This patient's presentation was also unique in that he maintained a normal electrolyte profile despite hypoaldosteronism, a phenomenon that may be explained by enhanced mineralocorticoid activity of exogenous cortisol. The diagnosis of primary adrenal insufficiency may not be suspected in the absence of classic hyperpigmentation and hyperkalemia, but should remain in the differential diagnosis of acute confusion. While the use of dexamethasone and etomidate in initial resuscitation can transiently suppress adrenal function, any unusually low cortisol level merits thorough investigation.

  12. A crisis of the heart: an acute reversible cardiomyopathy bridged to recovery in a patient with Addison's disease. (United States)

    Krishnamoorthy, Arun; Mentz, Robert J; Hyland, Kristen A; McMillan, Edward B; Patel, Chetan B; Milano, Carmelo A; Hernandez, Adrian F


    Primary adrenal insufficiency or Addison's disease is a rare disorder often difficult to diagnose on presentation by the nature of its associated nonspecific symptoms, such as nausea or weakness. Cardiovascular complications of the condition are usually limited to hypovolemic hypotension; however, we highlight here a rare, dramatic case of a fulminant adrenal crisis in a young man primarily marked by acute biventricular systolic failure and cardiogenic shock. The patient was successfully treated with corticosteroid replacement and bridged with temporary mechanical circulatory support to eventual complete the recovery of native myocardial function.

  13. Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European cohorts.

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    Anna L Mitchell

    Full Text Available Gene variants known to contribute to Autoimmune Addison's disease (AAD susceptibility include those at the MHC, MICA, CIITA, CTLA4, PTPN22, CYP27B1, NLRP-1 and CD274 loci. The majority of the genetic component to disease susceptibility has yet to be accounted for.To investigate the role of 19 candidate genes in AAD susceptibility in six European case-control cohorts.A sequential association study design was employed with genotyping using Sequenom iPlex technology. In phase one, 85 SNPs in 19 genes were genotyped in UK and Norwegian AAD cohorts (691 AAD, 715 controls. In phase two, 21 SNPs in 11 genes were genotyped in German, Swedish, Italian and Polish cohorts (1264 AAD, 1221 controls. In phase three, to explore association of GATA3 polymorphisms with AAD and to determine if this association extended to other autoimmune conditions, 15 SNPs in GATA3 were studied in UK and Norwegian AAD cohorts, 1195 type 1 diabetes patients from Norway, 650 rheumatoid arthritis patients from New Zealand and in 283 UK Graves' disease patients. Meta-analysis was used to compare genotype frequencies between the participating centres, allowing for heterogeneity.We report significant association with alleles of two STAT4 markers in AAD cohorts (rs4274624: P = 0.00016; rs10931481: P = 0.0007. In addition, nominal association of AAD with alleles at GATA3 was found in 3 patient cohorts and supported by meta-analysis. Association of AAD with CYP27B1 alleles was also confirmed, which replicates previous published data. Finally, nominal association was found at SNPs in both the NF-κB1 and IL23A genes in the UK and Italian cohorts respectively.Variants in the STAT4 gene, previously associated with other autoimmune conditions, confer susceptibility to AAD. Additionally, we report association of GATA3 variants with AAD: this adds to the recent report of association of GATA3 variants with rheumatoid arthritis.

  14. Addison's disease due to adrenal tuberculosis: Contrast-enhanced CT features and clinical duration correlation

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    Guo Yingkun [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Yang Zhigang [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China) and National Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China)]. E-mail:; Li Yuan [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Ma Ensen [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Deng Yuping [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Min Pengqiu [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Yin Longlin [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Hu Jian [Department of Stomatology, Dental Hospital, Wuhan University, Wuhan, Hubei 502310 (China); Zhang Xiaochun [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Chen Tianwu [Department of Radiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan 610041 (China)


    Purpose: To describe CT morphology of untreated adrenal tuberculosis during the different stages of the natural history of the disease and to evaluate the diagnostic implications of CT features. Materials and methods: We retrospectively evaluated CT features in 42 patients with documented adrenal tuberculosis for the location, size, morphology, and enhancement patterns shown on CT images. The clinical duration were correlated with the CT features. Results: Of the 42 patients with untreated adrenal tuberculosis, bilaterally enlarged adrenal glands were revealed in 38 cases (91%), unilaterally enlarged in 3 cases (7%), and normal size in 1 case (2%). Of the 41 cases (98%) with enlargement, mass-like enlargement was seen in 20 cases (49%) and enlargement with preserved contours in 21 cases (51%). Peripheral rim enhancement presented in 22 cases (52%) on contrast-enhanced CT. Non-enhanced CT scan revealed calcification in 21 cases (50%). As the duration of Addison's disease increased, the presence of calcification and contour preservation increased concomitantly (p < 0.001), whereas peripheral rim enhancement and mass-like enlargement decreased concomitantly on CT images (p < 0.001). Conclusion: CT may be helpful in diagnosing adrenal tuberculosis when clinically suspected, and CT features are correlated to the clinical duration of Addison's disease.

  15. The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease

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    Seidl Christian


    Full Text Available Abstract Background Three genes have been confirmed as major joint susceptibility genes for endocrine autoimmune disease:human leukocyte antigen class II, cytotoxic T-lymphocyte antigen 4 and protein tyrosine phosphatase non-receptor type 22. Recent studies showed that a genetic variation within the interferon induced helicase domain 1 (IFIH1 locus (rs1990760 polymorphism is an additional risk factor in type 1 diabetes and Graves' disease (GD. Methods The aim of the present study was to investigate the role of the rs1990760 polymorphism within the IFIH1 gene in German patients with GD (n = 258, Hashimoto's thyroiditis (HT, n = 106, Addison's disease (AD, n = 195 and healthy controls (HC, n = 227 as well as in 55 GD families (165 individuals, German and 100 HT families (300 individuals, Italian. Furthermore, the interaction between rs1990760 polymorphism with human leukocyte antigen (HLA risk haplotype DQ2(DQA*0501-DQB*0201, the risk haplotypes DQ2/DQ8 (DQA*0301-DQB*0302 and the status of thyroglobulin antibody (TgAb, thyroid peroxidase antibody (TPOAb and TSH receptor antibody (TRAb in patients and families were analysed. Results No significant differences were found between the allele and genotype frequencies for rs1990760 IFIH1 polymorphism in patients with GD, HT, AD and HC. Also no differences were observed when stratifying the IFIH1 rs1990760 polymorphism for gender, presence or absence of thyroid antibodies (GD:TRAb and HT:TPOAb/TgAb and HLA risk haplotypes (DQ2:for GD and HT, DQ2/DQ8:for AD. Furthermore the transmission analysis in GD and HT families revealed no differences in alleles transmission for rs1990760 IFIH1 from parents with or without HLA risk haplotype DQ2 to the affected offspring. In contrast, by dividing the HT parents according to the presence or absence of thyroid Ab titers, mothers and fathers both positive for TPOAb/TgAb overtransmitted the allele A of IFIH1 rs1990760 to their HT affected offspring (61.8% vs 38.2%;p = 0

  16. Adrenal crisis in treated Addison's disease: a predictable but under-managed event. (United States)

    White, Katherine; Arlt, Wiebke


    Adrenal crisis is a life-threatening event that occurs regularly in Addison's patients receiving standard replacement therapy. Patient reports suggest that it is an underestimated and under-managed event. To assess the frequency of adrenal crisis in diagnosed patients and to understand the factors contributing to the risks of adrenal crisis. We conducted a postal survey of Addison's patients in four countries, UK (n=485), Canada (n=148), Australia (n=123) and New Zealand (n=85) in 2003, asking about patients' experiences of adrenal crisis and their demographic characteristics. In 2006, a shorter follow-up survey was conducted in the UK (n=261). The frequency and causes of adrenal crisis were compared across both surveys. Demographic data from the 2003 survey were analysed to establish the main variables associated with an elevated risk of crisis. Around 8% of diagnosed cases can be expected to need hospital treatment for adrenal crisis annually. Exposure to gastric infection is the single most important factor predicting the likelihood of adrenal crisis. Concomitant diabetes and/or asthma increase the frequency of adrenal crises reported by patients. The endocrinologist has a responsibility to ensure that Addison's patients have adequate access to life-saving emergency injection materials and repeated, practical training sessions in how to use them, while the general practitioner plays a vital role as in arranging prompt emergency admissions.

  17. [Thomas Addison and the adrenal gland]. (United States)

    Smans, Lisanne C C J; Zelissen, Pierre M J


    The famous and beautifully illustrated monograph "On the Constitutional and Local Effects of Disease of the Suprarenal Capsules" was published by Thomas Addison in 1855. This was the first description of the disease that now bears his name. Thomas Addison provided the first real contribution to the knowledge of adrenal function after three centuries of non-productive speculation and is one of the founders of modern endocrinology.

  18. Absence of autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease in girls and women with Turner syndrome

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    Kämpe Olle


    Full Text Available Abstract Background A disturbance in the immune system has been described in Turner syndrome (45,X, with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,X, thyroiditis being the most common. Other autoimmune diseases seen are inflammatory bowel disease, insulin dependent diabetes mellitus, Addison's disease, rheumatoid arthritis, myasthenia gravis, vitiligo, alopecia, pernicious anaemia and hypoparathyroidism, but the association to Turner syndrome is not definite. Besides the typical features of Turner syndrome (short stature, failure to enter puberty spontaneously and infertility due to ovarian insufficiency ear problems are common. Otitis media and a progressive sensorineural hearing disorder are commonly seen. In the normal population there are known inner ear disorders related to autoimmune diseases. The aim of this study was to investigate patients with Turner syndrome regarding autoantibodies connected to the autoimmune disorders; autoimmune polyendocrine syndrome type I and II and Addison's disease, to screen for overlapping profile of autoantibodies. Blood samples from 110 Turner patients (7–65 years were investigated using in vitro transcription, translation and immunoprecipitation techniques regarding autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease (21-hydroxylase, 17α-hydroxylase, side-chain cleavage enzyme, aromatic L-amino acid decarboxylase, tyrosine hydroxylase and tryptophan hydroxylase. Results The autoantibodies investigated were not overrepresented among the Turner patients. Conclusion The autoimmune disorders associated with Turner syndrome do not seem to be of the same origin as Addison's disease, the type I or II autoimmune polyendocrine syndrome.

  19. Newly diagnosed T1 diabetes presenting with hypoglycemia due to simultaneous co-existence of Addison disease. (United States)

    Glynn, Nigel; Bashir, Mohammed; Smith, Diarmuid; Thompson, Christopher J


    Type 1 diabetes mellitus (TIDM) classically presents with symptomatic hyperglycemia and many patients develop diabetic ketoacidosis prior to their diagnosis. However, non-classical presentation or co-presentation with associated diseases may delay diagnosis or lead to challenges in acute, clinical management. An 18-yr-old girl presented to hospital with severe, symptomatic hypoglycemia. Clinical history and serum electrolyte concentrations suggested a diagnosis of adrenal insufficiency. She remained hypoglycemic until glucocorticoid replacement was commenced, at which point she developed persistent hyperglycemia requiring insulin therapy. Subsequent follow up confirmed the diagnosis of Addison's disease (AD), the treatment of which unmasked co-existing type 1 diabetes. Autoimmune diseases often cluster together in affected patients and first-degree relatives. Approximately 1 in 200 patients with T1DM develop AD. However, months or more commonly years usually elapse between the presentation of different autoimmune conditions. The co-diagnosis T1DM and AD in the acute setting is rare. Moreover, the first presentation of T1DM with severe hypoglycemia is even more exceptional. This case highlights the need for vigilance during the acute, emergency management of patients with autoimmune conditions and, in particular, to consider the possibility of concurrent antibody-mediated diseases which may need to be addressed during resuscitation. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. Total hip replacement infected with Mycobacterium tuberculosis complicated by Addison disease and psoas muscle abscess: a case report

    Directory of Open Access Journals (Sweden)

    De Nardo Pasquale


    Full Text Available Abstract Introduction Prosthetic joint infection due to Mycobacterium tuberculosis is occasionally encountered in clinical practice. To the best of our knowledge, this is the first report of a prosthetic joint infection due to Mycobacterium tuberculosis complicated by psoas abscesses and secondary Addison disease. Case presentation A 67-year-old immunocompetent Caucasian woman underwent total left hip arthroplasty because of osteoarthritis. After 18 months, she underwent arthroplasty revision for a possible prosthetic infection. Periprosthetic tissue specimens for bacteria were negative, and empirical antibiotic therapy was unsuccessful. She was then admitted to our department because of complications arising 22 months after arthroplasty. A physical examination revealed a sinus tract overlying her left hip and skin and mucosal pigmentation. Her levels of C-reactive protein, basal cortisol, adrenocorticotropic hormone, and sodium were out of normal range. Results of the tuberculin skin test and QuantiFERON-TB Gold test were positive. Computed tomography revealed a periprosthetic abscess and the inclusion of the left psoas muscle. Results of microbiological tests were negative, but polymerase chain reaction of a specimen taken from the hip fistula was positive for Mycobacterium tuberculosis. Our patient's condition was diagnosed as prosthetic joint infection and muscle psoas abscess due to Mycobacterium tuberculosis and secondary Addison disease. She underwent standard treatment with rifampicin, ethambutol, isoniazid, and pyrazinamide associated with hydrocortisone and fludrocortisone. At 15 months from the beginning of therapy, she was in good clinical condition and free of symptoms. Conclusions Prosthetic joint infection with Mycobacterium tuberculosis is uncommon. A differential diagnosis of tuberculosis should be considered when dealing with prosthetic joint infection, especially when repeated smears and histology examination from infected

  1. The effect of types I and III interferons on adrenocortical cells and its possible implications for autoimmune Addison's disease. (United States)

    Hellesen, A; Edvardsen, K; Breivik, L; Husebye, E S; Bratland, E


    Autoimmune Addison's disease (AAD) is caused by selective destruction of the hormone-producing cells of the adrenal cortex. As yet, little is known about the potential role played by environmental factors in this process. Type I and/or type III interferons (IFNs) are signature responses to virus infections, and have also been implicated in the pathogenesis of autoimmune endocrine disorders such as type 1 diabetes and autoimmune thyroiditis. Transient development of AAD and exacerbation of established or subclinical disease, as well as the induction of autoantibodies associated with AAD, have been reported following therapeutic administration of type I IFNs. We therefore hypothesize that exposure to such IFNs could render the adrenal cortex susceptible to autoimmune attack in genetically predisposed individuals. In this study, we investigated possible immunopathological effects of type I and type III IFNs on adrenocortical cells in relation to AAD. Both types I and III IFNs exerted significant cytotoxicity on NCI-H295R adrenocortical carcinoma cells and potentiated IFN-γ- and polyinosine-polycytidylic acid [poly (I : C)]-induced chemokine secretion. Furthermore, we observed increased expression of human leucocyte antigen (HLA) class I molecules and up-regulation of 21-hydroxylase, the primary antigenic target in AAD. We propose that these combined effects could serve to initiate or aggravate an ongoing autoimmune response against the adrenal cortex in AAD. © 2014 British Society for Immunology.

  2. Patterns of plasma cortisol and ACTH concentrations in patients with Addison's disease treated with conventional corticosteroid replacement. (United States)

    Feek, C M; Ratcliffe, J G; Seth, J; Gray, C E; Toft, A D; Irvine, W J


    Plasma cortisol and adrenocorticotrophin hormone (ACTH) profiles were estimated in twelve patients with Addison's disease following randomized oral administration of either cortisone acetate (25 mg) or hydrocortisone (20 mg) alternately, at 0900 h on consecutive days. Normal corticosteroid replacement therapy was discontinued from 1200 h on the day prior to the study period. In four patients elevated basal plasma ACTH concentrations were not suppressed to the limit of detection following the administration of either drug, and in three of these no suppression was found following the prolonged administration of pharmacological doses of dexamethasone. Diminished sensitivity of pituitary ACTH secretion to cortisol inhibition may result from chronic loss of negative feedback before and/or after diagnosis and treatment. In three patients elevated basal plasma ACTH concentrations were suppressed adequately during the administration of either drug, but in five, low basal ACTH concentrations following corticosteroid withdrawal suggested chronic inhibition of anterior pituitary corticotrophs by over-replacement with glucocorticoid. However, further study is necessary to determine whether the estimation of ACTH profiles is a more accurate reflection of the adequacy of corticosteroid replacement than the estimation of cortisol profiles alone, and whether this estimation leads to an improvement in patient management. Hydrocortisone (20 mg) achieved higher mean cortisol levels and lower mean ACTH levels than cortisone acetate (25 mg), but either drug may be suitable for glucocorticoid replacement provided the dose is tailored to the individual needs.

  3. 9β Polymorphism of the glucocorticoid receptor gene appears to have limited impact in patients with Addison's disease.

    Directory of Open Access Journals (Sweden)

    Ian Louis Ross

    Full Text Available BACKGROUND: Addison's disease (AD has been associated with an increased risk of cardiovascular disease. Glucocorticoid receptor polymorphisms that alter glucocorticoid sensitivity may influence metabolic and cardiovascular risk factors in patients with AD. The 9β polymorphism of the glucocorticoid receptor gene is associated with relative glucocorticoid resistance and has been reported to increase the risk of myocardial infarction in the elderly. We explored the impact of this polymorphism in patients with AD. MATERIALS AND METHODS: 147 patients with AD and 147 age, gender and ethnicity matched healthy controls were recruited. Blood was taken in a non-fasted state for plasma lipid determination, measurement of cardiovascular risk factors and DNA extraction. RESULTS: Genotype data for the 9β polymorphism was available for 139 patients and 146 controls. AD patients had a more atherogenic lipid profile characterized by an increase in the prevalence of small dense LDL (p = 0.003, increased triglycerides (p = 0.002, reduced HDLC (p<0.001 an elevated highly sensitive C-reactive protein (p = 0.01, compared with controls. The 9β polymorphism (at least one G allele was found in 28% of patients and controls respectively. After adjusting for age, gender, ethnicity, BMI and hydrocortisone dose per metre square of body surface area in patients, there were no significant metabolic associations with this polymorphism and hydrocortisone doses were not higher in patients with the polymorphism. CONCLUSIONS: This study did not identify any associations between the 9β polymorphism and cardiovascular risk factors or hydrocortisone dose and determination of this polymorphism is therefore unlikely to be of clinical benefit in the management of patients with AD.

  4. Autoantibodies against Cytochrome P450 Side-Chain Cleavage Enzyme in Dogs (Canis lupus familiaris Affected with Hypoadrenocorticism (Addison's Disease.

    Directory of Open Access Journals (Sweden)

    Alisdair M Boag

    Full Text Available Canine hypoadrenocorticism likely arises from immune-mediated destruction of adrenocortical tissue, leading to glucocorticoid and mineralocorticoid deficiency. In humans with autoimmune Addison's disease (AAD or autoimmune polyendocrine syndrome (APS, circulating autoantibodies have been demonstrated against enzymes associated with adrenal steroid synthesis. The current study investigates autoantibodies against steroid synthesis enzymes in dogs with spontaneous hypoadrenocorticism. Coding regions of canine CYP21A2 (21-hydroxylase; 21-OH, CYP17A1 (17-hydroxylase; 17-OH, CYP11A1 (P450 side-chain cleavage enzyme; P450scc and HSD3B2 (3β hydroxysteroid dehydrogenase; 3βHSD were amplified, cloned and expressed as 35S-methionine radiolabelled recombinant protein. In a pilot study, serum samples from 20 dogs with hypoadrenocorticism and four unaffected control dogs were screened by radio-immunoprecipitation assay. There was no evidence of reactivity against 21-OH, 17-OH or 3βHSD, but five dogs with hypoadrenocorticism showed immunoreactivity to P450scc compared with controls. Serum samples were subsequently obtained from 213 dogs diagnosed with hypoadrenocorticism and 110 dogs from a hospital control population. Thirty control dogs were randomly selected to establish a threshold for antibody positivity (mean + 3 × standard deviation. Dogs with hypoadrenocorticism were more likely to be P450scc autoantibody positive than hospital controls (24% vs. 1.2%, respectively; p = 0.0016. Sex was significantly associated with the presence of P450scc autoantibodies in the case population, with 30% of females testing positive compared with 17% of males (p = 0.037. Significant associations with breed (p = 0.015 and DLA-type (DQA1*006:01 allele; p = 0.017 were also found. This cross-sectional study indicates that P450scc autoantibodies are present in a proportion of dogs affected with hypoadrenocorticism.

  5. A rare case of Addison's disease, hepatitis, thyreoiditis, positive IgG anti-tissue transglutaminase antibodies and partial IgA deficiency. (United States)

    Baleva, Marta P; Mihaylova, Snejina; Yankova, Petja; Atanasova, Iliana; Nikolova-Vlahova, Milena; Naumova, Elissaveta


    Selective IgA deficiency (IgAD) is the most prevalent type of primary immune deficiencies, but partial IgA deficiency is even more common. Addison's disease is a rare condition associated with primary adrenal insufficiency due to infection or autoimmune destruction of the adrenals. The association between IgA deficiency and Addison's disease is very rare. We observed a 22-year-old male patient with marked darkening of the skin, especially on the palms and areolae, jaundice on the skin and sclera, astheno-adynamia, hypotension (80/50 mm Hg), and pain in the right hypochondrium. The laboratory investigations revealed increased serum levels of total and indirect bilirubin, AST, ALT, GGT and LDH, negative HBsAg, anti-HBc IgM, anti-HCV and anti-HAV IgM, very low serum IgA levels (0.16 g/l) with normal IgG and IgM, negative ANA, ANCA, AMA, LKM-1, anti-GAD-60, anti-IA-2, anti-thyroglobulin antibodies, a mild increase in anti-TPO antibodies titer, a marked increase in IgG anti-tissue transglutaminase antibodies, with no typical changes in cellular immunity, negative T-SPOT-TB test, HLA - A*01; B*08; DRB1*03; DQB1*02, karyotype - 46, XY. We present a rare case of partial IgA deficiency with Addison's disease, hepatitis, thyroiditis and positive anti-tissue transglutaminase antibodies. IgAD and some autoimmune disorders share several predisposing HLA genes, thus explaining the increased prevalence of IgAD in certain patient groups.

  6. The Importance of Computed Tomography Findings in Detecting Tuberculous Addison's Disease

    Directory of Open Access Journals (Sweden)

    Sara Ferreira


    Full Text Available Addison’s disease is an endocrine disorder characterized by primary adrenal insufficiency due to various causes. Mycobacterium tuberculosis infection was a major cause in the past but is rare nowadays. We describe a patient admitted to our hospital who was diagnosed with tuberculous Addison’s disease.

  7. Cardiovascular risk factors in patients with Addison's disease: a comparative study of South African and Swedish patients.

    Directory of Open Access Journals (Sweden)

    Ian Louis Ross

    Full Text Available BACKGROUND: Patients with Addison's disease (AD in Scandinavia have an increased risk for premature death due to cardiovascular disease (CVD. Serum lipids are important risk factors for CVD and vascular mortality. Replacement doses of hydrocortisone have historically been higher in Sweden than South Africa. The primary aim was to study the lipid profiles in a large group of patients with AD with the hypothesis that the lipid profile in patients in Sweden would be worse than in South Africa. METHODS: In a cross-sectional study, 110 patients with AD (55 from South Africa, 55 from Sweden matched for age, gender, ethnicity and BMI were studied. Anthropometric measures, blood pressure, lipids, highly sensitive C-reactive protein (hs-CRP and adiponectin were studied. RESULTS: All patients were Caucasian and the majority were women N = 36 (65.5%. Mean (standard deviation; SD ages of the Swedish and South African patients were 52.9 (13.0 and 52.6 (14.4 years and BMI 25.3 (3.2 and 25.8 (4.1 kg/m2, respectively. The mean total daily hydrocortisone dose was greater in the Swedish patients than the South African patients, [33.0 (8.1 versus 24.3 (8.0 mg; p<0.0001]. South African patients had higher median (interquartilerange; IQR triglycerides (TG [1.59 (1.1-2.46 versus 0.96 (0.74-1.6 mmol/l; p<0.001], total cholesterol (TC [6.02(1.50 versus 5.13 (0.87 mmol/l; p<0.001], LDL-C [4.43 (1.44 versus 2.75 (0.80 mmol/l; p<0.001] and median hs-CRP [2.15 (0.93-5.45 versus 0.99 (0.57-2.10 mg/L; p<0.003] and lower HDL-C [0.80 (0.40 versus 1.86 (0.46 mmol/l; p<0.001] than the Swedish patients. Approximately 20% of the patients in both cohorts had hypertension and diabetes mellitus. CONCLUSIONS: South African patients with AD have worse lipid profiles and higher hs-CRP compared to their matched Swedish patients, despite lower doses of hydrocortisone. It is uncertain at this time whether these are due to genetic or environmental factors.

  8. Jane Austen's lifelong health problems and final illness: New evidence points to a fatal Hodgkin's disease and excludes the widely accepted Addison's. (United States)

    Upfal, A


    Jane Austen is typically described as having excellent health until the age of 40 and the onset of a mysterious and fatal illness, initially identified by Sir Zachary Cope in 1964 as Addison's disease. Her biographers, deceived both by Cassandra Austen's destruction of letters containing medical detail, and the cheerful high spirits of the existing letters, have seriously underestimated the extent to which illness affected Austen's life. A medical history reveals that she was particularly susceptible to infection, and suffered unusually severe infective illnesses, as well as a chronic conjunctivitis that impeded her ability to write. There is evidence that Austen was already suffering from an immune deficiency and fatal lymphoma in January 1813, when her second and most popular novel, Pride and Prejudice, was published. Four more novels would follow, written or revised in the shadow of her increasing illness and debility. Whilst it is impossible now to conclusively establish the cause of her death, the existing medical evidence tends to exclude Addison's disease, and suggests there is a high possibility that Jane Austen's fatal illness was Hodgkin's disease, a form of lymphoma.

  9. Addison's Disease: Treatment (United States)

    ... in the event you forget to take your pills. Also, have your doctor prescribe a needle, syringe and injectable form of corticosteroids to have with you in case of an emergency. Stay in contact with your doctor. Keep an ...

  10. The effect of genetic bottlenecks and inbreeding on the incidence of two major autoimmune diseases in standard poodles, sebaceous adenitis and Addison's disease. (United States)

    Pedersen, Niels C; Brucker, Lynn; Tessier, Natalie Green; Liu, Hongwei; Penedo, Maria Cecilia T; Hughes, Shayne; Oberbauer, Anita; Sacks, Ben


    Sebaceous adenitis (SA) and Addison's disease (AD) increased rapidly in incidence among Standard Poodles after the mid-twentieth century. Previous attempts to identify specific genetic causes using genome wide association studies and interrogation of the dog leukocyte antigen (DLA) region have been non-productive. However, such studies led us to hypothesize that positive selection for desired phenotypic traits that arose in the mid-twentieth century led to intense inbreeding and the inadvertent amplification of AD and SA associated traits. This hypothesis was tested with genetic studies of 761 Standard, Miniature, and Miniature/Standard Poodle crosses from the USA, Canada and Europe, coupled with extensive pedigree analysis of thousands more dogs. Genome-wide diversity across the world-wide population was measured using a panel of 33 short tandem repeat (STR) loci. Allele frequency data were also used to determine the internal relatedness of individual dogs within the population as a whole. Assays based on linkage between STR genomic loci and DLA genes were used to identify class I and II haplotypes and disease associations. Genetic diversity statistics based on genomic STR markers indicated that Standard Poodles from North America and Europe were closely related and reasonably diverse across the breed. However, genetic diversity statistics, internal relatedness, principal coordinate analysis, and DLA haplotype frequencies showed a marked imbalance with 30 % of the diversity in 70 % of the dogs. Standard Poodles with SA and AD were strongly linked to this inbred population, with dogs suffering with SA being the most inbred. No single strong association was found between STR defined DLA class I or II haplotypes and SA or AD in the breed as a whole, although certain haplotypes present in a minority of the population appeared to confer moderate degrees of risk or protection against either or both diseases. Dogs possessing minor DLA class I haplotypes were half as

  11. Endocrine Diseases (United States)

    ... to. Featured Topics Adrenal Insufficiency and Addison's Disease Pregnancy & Thyroid Disease Hypothyroidism (Underactive Thyroid) Hashimoto's Disease Hyperthyroidism (Overactive Thyroid) Graves' ...

  12. Adrenal Insufficiency and Addison's Disease (United States)

    ... body. slow sexual development. pernicious anemia, a severe type of anemia; anemia is a condition in which red blood ... is carried to the body’s cells. With most types of anemia, red blood cells are smaller than normal; however, ...

  13. Cytokine autoantibody screening in the Swedish Addison Register identifies patients with undiagnosed APS1. (United States)

    Eriksson, Daniel; Dalin, Frida; Eriksson, Gabriel Nordling; Landegren, Nils; Bianchi, Matteo; Hallgren, Åsa; Dahlqvist, Per; Wahlberg, Jeanette; Ekwall, Olov; Winqvist, Ola; Catrina, Sergiu-Bogdan; Rönnelid, Johan; Hulting, Anna-Lena; Lindblad-Toh, Kerstin; Alimohammadi, Mohammad; Husebye, Eystein S; Knappskog, Per Morten; Pielberg, Gerli Rosengren; Bensing, Sophie; Kämpe, Olle


    Autoimmune polyendocrine syndrome type 1 (APS1) is a monogenic disorder that features autoimmune Addison's disease as a major component. Although APS1 accounts for only a small fraction of all Addison's disease cases, it is vital with an early identification of these individuals in order to prevent potentially lethal complications of APS1. To determine whether available serological and genetic markers are valuable screening tools for the identification of APS1 among patients diagnosed with Addison's disease. We systematically screened 677 Addison patients enrolled in the Swedish Addison Register for autoantibodies against interleukin-22 and interferon-α4. Autoantibody positive patients were investigated for clinical manifestations of APS1, additional APS1-specific autoantibodies, and DNA sequence and copy number variation of AIRE. In total, 17 (2.5%) patients displayed autoantibodies against interleukin-22 and/or interferon-α4, of which 9 were known APS1-cases. Four patients, previously undiagnosed with APS1, fulfilled clinical, genetic and serological criteria. Hence, we identified four undiagnosed APS1 patients with this screening procedure. We propose that patients with Addison's disease should be routinely screened for cytokine autoantibodies. Clinical or serological support for APS1 should warrant DNA sequencing and copy number analysis of AIRE to enable early diagnosis and prevention of lethal complications.

  14. Schilder's Disease (United States)

    ... is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, ... is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, ...

  15. Addisons sygdom hos femårig

    DEFF Research Database (Denmark)

    Smedegaard, Heidi; Jensen, Rikke Beck; Holm, Kirsten


    This case-report presents a 5-year-old girl with gastrointestinal symptoms, who became increasingly confused over the last day before admission. She was believed to be in septic shock or have meningitis and was treated with normal saline infusion, glucocorticoid and antibiotics intravenously. A f...... days later she was diagnosed with primary adrenal insufficiency (Morbus Addison), which is a very rare disorder among children. If untreated, the condition is lethal, and should always be considered as a differential diagnosis in severely ill patients....

  16. Addison disease and normocalcemic primary hyperparathyroidism ...

    African Journals Online (AJOL)

    A 12-year old dog with a 9-year history of primary adrenal insufficiency was referred to the service for hyporexia, muscle weakness, polyuria and polydipsia. Ultrasound examination showed an unresectable mass in the left adrenal gland, with local vascular invasion, which prompted the euthanasia of the animal. Additionally ...

  17. VT Lidar Hillshade (1.6 meter) - 2012 - Addison (United States)

    Vermont Center for Geographic Information — (Link to Metadata) This metadata applies to the following collection area(s): Addison County 2012 1.6m and related "HILLSHADE" raster data. HILLSHADE data is for...

  18. VT Lidar Slope (1.6 meter) - 2012 - Addison County (United States)

    Vermont Center for Geographic Information — (Link to Metadata) This metadata applies to the following collection area(s): Addison County 2012 1.6m and related SLOPE datasets. Created using ArcGIS "SLOPE"...

  19. VT Lidar DSM (1.6 meter) - 2012 - Addison (United States)

    Vermont Center for Geographic Information — (Link to Metadata) This metadata applies to the following collection area(s): Addison County 2012 1.6m and related Digital Surface Model (DSM) data. This metadata...

  20. VT Lidar Aspect (1.6 meter) - 2012 - Addison County (United States)

    Vermont Center for Geographic Information — (Link to Metadata) This metadata applies to the following collection area(s): Addison County 2012 1.6m and related ASPECT datasets. This metadata complies with the...

  1. 78 FR 54795 - Proposed Amendment of Class D Airspace; Dallas, Addison Airport, TX (United States)


    ... Federal Aviation Administration 14 CFR Part 71 Proposed Amendment of Class D Airspace; Dallas, Addison... (NPRM). SUMMARY: This action proposes to amend Class D airspace at Addison Airport, Dallas, TX. Changes... 71 by amending Class D airspace at Addison Airport, Dallas, TX. Adjustments to air traffic flows in...

  2. Disease: H00176 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available progressive behavioral, cognitive and neurologic deficit. Inherited metabolic disease; Neurodegenerative dis...ropathy (AMN), Addison-only, and asymptomatic. This disorder is characterized by

  3. Celiac Disease Tests (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... Seems to Be on the Rise, Mainly in Elderly: Study Blood markers for the disease rose from ...

  4. 78 FR 57545 - Proposed Amendment of Class D Airspace; Dallas, Addison Airport, TX (United States)


    ... Airport, TX AGENCY: Federal Aviation Administration (FAA), DOT. ACTION: Notice of proposed rulemaking... Class D airspace ceiling at Addison Airport, Dallas, TX, is being withdrawn. Upon review, the FAA... 6, 2013, a NPRM was published in the Federal Register proposing to amend the Addison Airport Class D...

  5. Autism and Autoimmune Disease: A Family Study (United States)

    Money, John; And Others


    Described in a family in which the youngest boy has early infantile autism, Addison's disease, and moniliasis and two older boys have autoimmune disease with hypoparathyroidism, Addison's disease, moniliasis, and either alopecia totalis or diabetes mellitus, while the oldest boy and parents are symptom free. (KW)

  6. Pigmentation in vitamin B12 deficiency masquerading Addison's pigmentation: A rare presentation. (United States)

    Agrawala, Ritesh Kumar; Sahoo, Srikanta Kumar; Choudhury, Arun Kumar; Mohanty, Binoy Kumar; Baliarsinha, Anoj Kumar


    A 35-year-female presented with generalized weakness, weight loss, and progressive pigmentation was worked up for suspicion of Addisons disease. On examination hyper pigmentation was noted on both palmar and dorsal aspect of hands involving knuckles, creases, feet, tongue, oral mucosa and gluteal region. There was no evidence of hypocortisolemia as initially suspected, and literature search revealed a possibility of vitamin B12 deficiency. She had megaloblastic anemia with a low serum vitamin B12, mostly due to poor dietary intake. Her hyper pigmentation resolved with vitamin B12 supplementation. Skin biopsy showed increased pigmentation at stratum spinosum and basal-layer. The mechanism of hyper pigmentation in vitamin B12 deficiency was due to an increase in melanin synthesis.

  7. Enfermedad de Addison asociado a tuberculosis pulmonar: reporte de un caso


    Maria Ofelia Foronda Rios; Cecilia Soria Flores; Mirtha Lizeth Flores Prado; Jose Luis Foronda Rios; Jose Luis Flores Orellana


    La enfermedad de Addison resulta de la destrucción progresiva de las glándulas adrenales pudiendo llegar a destruir hasta el 90% antes de que aparezca una insuficiencia corticosuprarrenal clínicamente observable.Históricamente, la tuberculosis fue una causa frecuente de la enfermedad de Addison, aunque otras enfermedades también pueden producir la enfermedad.La enfermedad de Addison estima una prevalencia de aproximadamente 110 casos por millón de habitantes y una incidencia de 5 a 6 casos po...

  8. Exploring Rare Diseases in South Africa, a Personal Journey: Time ...

    African Journals Online (AJOL)

    Addison's disease, compared with other disciplines. Addison's disease is designated as a medical condition that enjoys the prescribed minimum benefit, and it is a statutory requirement in South Africa that patients belonging to a. Exploring Rare Diseases in South Africa, a Personal. Journey: Time for Electronic Record‑ ...

  9. VT Lidar nDSM (1.6 meter) - 2012 - Addison County (United States)

    Vermont Center for Geographic Information — (Link to Metadata) This metadata applies to the following collection area(s): Addison County 2012 1.6m and related "normalized" Digital Surface Model (nDSM). Created...

  10. VT Lidar Hydro-flattened DEM (1.6 meter) - 2012 - Addison (United States)

    Vermont Center for Geographic Information — (Link to Metadata) This metadata applies to the following collection area(s): Addison County 2012 1.6m and Digital Elevation Model (DEM) datasets of various...

  11. Addison's disease. Challenges in treatment and follow up

    NARCIS (Netherlands)

    Smans, L.C.C.J.


    In the first part of this thesis we discuss a concise stepwise approach for the diagnostic evaluation of adrenal insufficiency (AI), taking into account the possible pitfalls associated with the different tests. The second part describes the history of replacement therapy, discusses the current

  12. Prevalence of chronic diseases in private healthcare sector of South ...

    African Journals Online (AJOL)

    The chronic conditions included in this paper are listed (Table 1). Table 1: South African chronic disease list (CDL). Addison's disease. Dysrhythmia. Asthama. EpilepsyI. Bronchiectasis. Glaucoma. Cardiac failure. Haemophilia A. Cardiomyopathy. Haemophilia B. Chronic obstructive pulmonary disease. Hyperlipidemia.

  13. Scott Foresman-Addison Wesley Elementary Mathematics. What Works Clearinghouse Intervention Report (United States)

    What Works Clearinghouse, 2010


    "Scott Foresman-Addison Wesley Elementary Mathematics" is a core curriculum for students at all ability levels in prekindergarten through grade 6. The program supports students' understanding of key math concepts and skills and covers a range of mathematical content across grades. The What Works Clearinghouse (WWC) reviewed 12 studies on…

  14. Scott Foresman-Addison Wesley Elementary Mathematics. What Works Clearinghouse Intervention Report. Updated (United States)

    What Works Clearinghouse, 2013


    "Scott Foresman-Addison Wesley Elementary Mathematics" is a core mathematics curriculum for students in prekindergarten through grade 6. The program aims to improve students' understanding of key math concepts through problem-solving instruction, hands-on activities, and math problems that involve reading and writing. The curriculum…

  15. Reflections of a Citizen Teacher: Literacy, Democracy, and the Forgotten Students of Addison High. (United States)

    DeStigter, Todd

    Based on more than three years of in-depth research, this book tells the stories of a small group of Latino and Latina students attending a predominantly White high school in a rural area of southeast Michigan. The book takes readers inside the hallways and classrooms of Addison High and into the homes and neighborhoods of Spanish-speaking…

  16. Caracterización funcional y fenotípica de los linfocitos T en la enfermedad de ADDISON


    Álvarez Escolá, Cristina


    La enfermedad de addison "idiopática" constituye un proceso de patogenia inmunológica con afectación preferencial con expresión clínica de la célula adrenocortical. En este trabajo hemos pretendido el estudio de las alteraciones del comportamiento linfocitario t en los pacientes con enfermedad de addison autoinmune, para ello obtuvimos a partir de sangre periférica, fracciones celulares cd2+ de 16 pacientes con addison autoinmune (aa), 9 pacientes con adisson tuberculoso (at) y 19 controles s...


    Directory of Open Access Journals (Sweden)

    Clara Preto


    Discussão: A doença de Addison é uma patologia rara em idade pediátrica e o seu diagnóstico requer um elevado grau de suspeição, dada a inespecificidade da sintomatologia inicial. Os autores pretendem alertar para a suspeição necessária perante uma clínica de hiponatrémia associada a sintomas constitucionais e gastrointestinais.

  18. Autoimmune diseases in a Nigerian woman – A case report | Talabi ...

    African Journals Online (AJOL)

    ... Guillian-Barre syndrome, vitiligo, type 1 diabetes mellitus, Graves diseases, Goodpastures syndrome, pemphigus, rheumatoid arthritis, systemic lupus erythematosis, Addisons disease, multiple sclerosis, pernicious anaemia, autoimmune haemolytic anaemia, chronic active hepatitis, idiopathic thrombocytopenic purpura.

  19. 'Over by Christmas': The First World War, Education Reform and the Economy. The Case of Christopher Addison and the Origins of the DSIR. (United States)

    Daglish, Neil


    Reviews the role of Christopher Addison, the Parliamentary Secretary to the Board of Education, in the reform of British educational policy during the early twentieth century. Explains that in 1914 Addison developed a scheme to resolve the problems facing the post-compulsory education sector in order to help the economy. (CMK)

  20. Doença de Addison na infância


    Carvalho, Maria Raquel; Russo, Tânia; Robalo, Brígida; Pereira, Carla; Sampaio, Maria de Lurdes


    A insuficiência supra-renal primária ou doença de Addison é uma patologia rara em idade pediátrica. O seu quadro clínico e a particularidade das diferentes etiologias tornam-na especialmente difícil de diagnosticar. Ilustra-se esta realidade fazendo uma revisão teórica, dedicando especial ênfase à forma de apresentação, à diversidade de manifestações clínicas e à importância do diagnóstico etiológico preciso. 

  1. Atención de enfermería en pacientes con enfermedad de Addison


    López Galicia, Marina


    Trabajo de fin de Grado. Grado en Enfermería (Zamora). Curso académico 2016-2017 [ES]La Enfermedad de Addison o Insuficiencia Suprarrenal Primaria se produce por la destrucción de las glándulas suprarrenales, dando lugar a una disminución o ausencia de la secreción de hormonas glucocorticoides, mineralocorticoides y andrógenos. El objetivo es realizar un análisis de la literatura científica sobre esta enfermedad y la actuación de Enfermería que requieren estos pacientes, así como hacer pro...

  2. Clinical implications of shared genetics and pathogenesis in autoimmune diseases

    NARCIS (Netherlands)

    Zhernakova, Alexandra; Withoff, Sebo; Wijmenga, Cisca


    Many endocrine diseases, including type 1 diabetes mellitus, Graves disease, Addison disease and Hashimoto disease, originate as an autoimmune reaction that affects disease-specific target organs. These autoimmune diseases are characterized by the development of specific autoantibodies and by the

  3. Diagnóstico y tratamiento de la Enfermedad de Addison; ejemplos de su manejo clínico


    Wang Zúñiga, Paula; Hao Chen Ku, Chih


    La insuficiencia adrenal primaria o enfermedad de Addison, cursa con la producción insuficiente de glucocorticoides y en ocasiones mineralocorticoides. Tiene diversas manifestaciones dependiendo de la causa. Un alto porcentaje de pacientes portadores de insuficiencia adrenal primaria autoinmune cursan con dos o más desórdenes órganoespecíficos, dando lugar a los síndromes autoinmunes poliendocrinos. Debido a la variedad de manifestaciones con las que puede cursar esta enfermedad, es necesario...

  4. High frequency of coeliac disease among patients with autoimmune adrenocortical failure. (United States)

    Myhre, A G; Aarsetøy, H; Undlien, D E; Hovdenak, N; Aksnes, L; Husebye, E S


    Coeliac disease (CD) is an autoimmune disease of the small intestine caused by gluten ingestion in genetically predisposed subjects. It can occur isolated or in combination with other autoimmune diseases. Autoimmune Addison's disease is frequently associated with other organ-specific autoimmune diseases. We have investigated the prevalence of CD among a large cohort of patients with autoimmune Addison's disease. Seventy-six patients (44 women) with Addison's disease, 52% of whom had polyendocrine failure, were recruited from a registry of organ-specific autoimmune diseases in Norway. All sera were analysed for antibodies against gliadin (AGA), endomysium (EMA) and tissue transglutaminase (tTG). Patients with positive EMA and/or anti-tTG were offered endoscopy. The human leucocyte antigen (HLA) class II genotypes were determined. Five patients had antibodies against both endomysium and tissue transglutaminase. In these five patients, CD was verified by biopsy. One patient had known CD prior to the study. All six patients with CD carried the CD-associated HLA haplotype DR3-DQ2. The total prevalence of CD was 7.9%. CD is frequently associated with Addison's disease. The risk of developing CD seems to be higher than can be explained by the common DR3-DQ2 association alone. It is often asymptomatic or associated with unspecific symptoms. Addison patients should be screened for the presence of CD on a regular basis.


    Chandy, David D; Bhatia, Eesh


    In primary adrenal insufficiency (PAI), replacement with prednisolone may result in lower bone mineral density (BMD) compared with hydrocortisone therapy. However, the number of patients studied on prednisolone is small and the results are conflicting. We conducted a cross-sectional study to determine BMD and its relation with therapy in patients on physiologic doses of prednisolone replacement. Forty-one consecutive patients (31 males, age [mean ± SD] 50.9 ± 13.0 years), receiving prednisolone (hydrocortisone equivalent [HCE] 13.0 ± 3.0 mg/m(2)) for 104 ± 95 months were studied. BMD was evaluated by dual-energy X-ray absorptiometry and compared with an age- and sex-matched reference group of healthy Indian subjects (n = 677). Among males, BMD Z-scores (mean [95% confidence interval {CI}]) at lumbar spine (-0.42 [-0.80, -0.04]), femoral neck (-0.50 [-0.95, -0.06]) and total hip (-0.58 [-0.90, -0.26]) were significantly lower than the reference population. Z-scores in female patients did not differ from controls. Among postmenopausal females and males >50 years, 43% had osteoporosis (T-score ≤-2.5), as compared with 25% in the reference group (P = .04). There was no correlation between BMD Z-scores and HCE dose or duration of therapy. On multivariate regression analysis, body mass index was the only significant predictor of BMD. A high proportion of males (45%) had low serum testosterone (<300 ng/dL), but there was no correlation between testosterone and BMD. Male patients with PAI receiving physiologic prednisolone replacement had a small but significant diminution in BMD at all sites.

  6. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes

    NARCIS (Netherlands)

    Magitta, N. F.; Wolff, A. S. Boe; Johansson, S.; Skinningsrud, B.; Lie, B. A.; Myhr, K-M; Undlien, D. E.; Joner, G.; Njolstad, P. R.; Kvien, T. K.; Forre, O.; Knappskog, P. M.; Husebye, E. S.

    Variants in the gene encoding NACHT leucine-rich-repeat protein 1 (NALP1), an important molecule in innate immunity, have recently been shown to confer risk for vitiligo and associated autoimmunity. We hypothesized that sequence variants in this gene may be involved in susceptibility to a wider

  7. Addison disease and normocalcemic primary hyperparathyroidism in a dog with multiple endocrine neoplasia

    Directory of Open Access Journals (Sweden)

    Elber Alberto Soler Arias


    Full Text Available A 12-year old dog with a 9-year history of primary adrenal insufficiency was referred to the service for hyporexia, muscle weakness, polyuria and polydipsia. Ultrasound examination showed an unresectable mass in the left adrenal gland, with local vascular invasion, which prompted the euthanasia of the animal. Additionally, necropsy revealed a nodular lesion in the right adrenal gland and enlargement of one of the four parathyroid glands. Parathyroid hormone levels were elevated, but ionized and total calcium levels were normal. Histopathology supported the diagnosis of parathyroid chief cell adenoma and bilateral pheochromocytoma. Immunohistochemical staining was positive for synaptophysin, and negative for Melan-A and calretinin, which confirmed the diagnosis of pheochromocytoma. This case highlights an unusual presentation of multiple endocrine neoplasias within the context of primary adrenal insufficiency and normocalcemic primary hyperparathyroidism.

  8. A Dog with Pseudo-Addison Disease Associated with Trichuris vulpis Infection

    Directory of Open Access Journals (Sweden)

    Luigi Venco


    Full Text Available A female Rottweiler dog was presented with a history of intermittent vomiting and diarrhoea, dysorexia, weakness, and weight loss. Haemocytometry and biochemistry values were within normal ranges except for electrolyte analyses, that demonstrated hyponatremia and hyperkalemia with a decreased sodium/potassium ratio. A diagnosis of hypoadrenocorticism was suspected. Basal and post-ACTH stimulation cortisolemia were within the normal values. Electrocardiography was normal, and thoracic radiography showed no significant modifications. On abdominal ultrasonography, adrenal glands appeared normal, while the bowel was distended, and several thin linear hyperechoic objects floating in the lumen were observed. Two adult female whipworms (Trichuris vulpis were collected following bowel irrigation. Anthelmintic treatment against the parasite was curative.

  9. Keeping the Metaphor of Scaffolding Fresh--A Response to C. Addison Stone's "The Metaphor of Scaffolding: Its Utility for the Field of Learning Disabilities". (United States)

    Palincsar, Annemarie Sullivan


    This commentary on C. Addison's Stone's paper on the scaffolding metaphor for the learning disabilities field suggests: (1) repositioning the metaphor in its theoretical frame; (2) considering the ways in which contexts and activities, as well as individuals, scaffold learning; and (3) examining the relationship between scaffolding and effective…

  10. De impact van de ziekte van Addison, AGS of het syndroom van Cushing op het dagelijks leven en de zorg: een onderzoek vanuit patiëntenperspectief.

    NARCIS (Netherlands)

    Heijmans, M.J.W.M.; Rijken, M.


    Negentig procent van de mensen met de ziekte van Addison, de ziekte van Cushing of het Adrenogenotaalsyndroom (AGS) is altijd moe. Dit is ruim tweemaal zoveel als in de algemene bevolking. Hoewel hun aandoening in medisch opzicht ‘onder controle’ is, is de kwaliteit van hun leven vaak verre van

  11. Autoimmune diseases in a Nigerian woman - A case report

    African Journals Online (AJOL)

    pus erythematosis, Addisons disease, multiple sclerosis, pernicious anaemia, autoimmune haemolytic anaemia, chronic active hepatitis, idiopathic thrombocytopenic pur- pura. There is paucity of locally documented information on the occurrence of AD in same patient in our environ- ment. We therefore report the case of a ...

  12. The Contribution of Online Peer-to-Peer Communication Among Patients With Adrenal Disease to Patient-Centered Care

    NARCIS (Netherlands)

    Kauw, D.; Repping-Wuts, H.; Noordzij, A.; Stikkelbroeck, N.; Hermus, A.R.; Faber, M.J.


    BACKGROUND: Addison's disease and Cushing's syndrome are rare. The Dutch Adrenal Society offers an online forum for Dutch adrenal patients to meet and communicate. However, little is known about the added value such a forum has for the delivery of patient-centered care. OBJECTIVE: Our aim was to

  13. Effect of steroid replacement on thyroid function and thyroid autoimmunity in Addison′ s disease with primary hypothyroidism

    Directory of Open Access Journals (Sweden)

    Jaya Prakash Sahoo


    Full Text Available Background: Steroid replacement without thyroxine supplementation normalizes thyroid function test (TFT in some but not all Addison's disease patients with primary hypothyroidism. Both autoimmune and nonautoimmune mechanisms contribute to this improvement in TFT. However, the documentation of the change in thyroid autoimmunity after cortisol replacement is very limited in the literature. The aim of this study was to determine the effect of steroid replacement on TFT and anti-thyroid peroxidase antibody (anti-TPO-Ab titer in Addison's disease with primary hypothyroidism. Materials and Methods: This observational study was conducted in a tertiary care center in South India. Six Addison's disease patients with primary hypothyroidism, who were only on steroid replacement, were included in the study. Low serum cortisol (22 pmol/L and/or hyperpigmentation of skin/mucous membranes was considered as the diagnostic criteria for Addison's disease. Primary hypothyroidism (both overt and subclinical was defined as high thyroid stimulating hormone (TSH with/without low free thyroxine (fT4. TFT and anti-TPO-Ab were performed before and after steroid replacement in all of them. Results: Poststeroid replacement, there was a normalization of TSH in all but one subjects. In overt hypothyroidism patients, fT4 also normalized. The improvement in TFT was not associated with decreasing titer of the anti-TPO-Ab in all six patients. However, there was a significant difference in TSH after steroid replacement compared to the baseline status. Conclusions: The concept of normalization of primary hypothyroidism with cortisol replacement in patients with Addison's disease should be recognized to avoid iatrogenic thyrotoxicosis caused by thyroxine replacement. Both autoimmune and nonautoimmune mechanisms contribute to these alterations.

  14. High grade primary adrenal intravascular large B-cell lymphoma manifesting as Addison disease Linfoma intravascular de alto grado de células B grandes y origen suprarrenal que se manifiesta en forma de enfermedad de Addison

    Directory of Open Access Journals (Sweden)

    J. Venizelos


    Full Text Available We report a rare case of a 68 aged male who presented with adrenal failure and was diagnosed of high grade large B-cell lymphoma primarily arising in the adrenal glands. The patient was administrated with additional chemotherapy but he passed away 7 months later due to infection in the lungs. Intravascular lymphoma should be suspected in patients with bilateral adrenal masses who present with rapidly progressive adrenal insufficiency.Publicamos el caso poco frecuente de un varón de 68 años de edad que debutó con insuficiencia adrenal y fue diagnosticado de linfoma de alto grado de células B grandes ubicado principalmente en las glándulas suprarrenales. Al paciente le administraron quimioterapia adicional, pero falleció 7 meses después de infección pulmonar. El linfoma intravascular debe sospecharse en los pacientes con masas suprarrenales bilaterales que presenten insuficiencia adrenal rápidamente progresiva.

  15. High grade primary adrenal intravascular large B-cell lymphoma manifesting as Addison disease Linfoma intravascular de alto grado de células B grandes y origen suprarrenal que se manifiesta en forma de enfermedad de Addison


    J. Venizelos; D. Tamiolakis; M. Lambropoulou; G. Alexiadis; G. Petrakis; N. Papadopoulos


    We report a rare case of a 68 aged male who presented with adrenal failure and was diagnosed of high grade large B-cell lymphoma primarily arising in the adrenal glands. The patient was administrated with additional chemotherapy but he passed away 7 months later due to infection in the lungs. Intravascular lymphoma should be suspected in patients with bilateral adrenal masses who present with rapidly progressive adrenal insufficiency.Publicamos el caso poco frecuente de un varón de 68 años de...

  16. Addison’s Disease and Possible Cannabis Withdrawal Syndrome Presenting as an Eating Disorder in a Thirty-Year-Old Female


    Kimberly Lazare


    A 30-year-old female with a history of anxiety, cannabis use, and Avoidant/Restrictive Food Intake Disorder presented for residential treatment of a Cannabis Use Disorder. Upon arrival, she had not eaten for two days and was found to be hypotensive with electrolyte disturbances. She was admitted to a nearby hospital, where the Internist diagnosed her with Addison's disease. She was treated with corticosteroid therapy, with rapid normalization of her electrolytes, eating, and anxiety. This is ...

  17. Coeliac disease in endocrine diseases of autoimmune origin. (United States)

    Miśkiewicz, Piotr; Kępczyńska-Nyk, Anna; Bednarczuk, Tomasz


    Abstract Coeliac disease (CD, sometimes called gluten-sensitive enteropathy or nontropical sprue) is an inflammatory disorder of the small intestine of autoimmune origin. It occurs in genetically predisposed people and is induced by a gluten protein, which is a component of wheat. The prevalence of histologically confirmed CD is estimated in screening studies of adults in the United States and Europe to be between 0.2% and 1.0%. The results of previous studies have indicated that the prevalence of CD is increased in patients with other autoimmune disorders such as: autoimmune thyroid diseases, type 1 diabetes mellitus, and Addison's disease. A coincidence of the above diseases constitutes autoimmune polyglandular syndrome (APS). The high prevalence of CD in APS is probably due to the common genetic predisposition to the coexistent autoimmune diseases. The majority of adult patients have the atypical or silent type of the disease. This is the main reason why CD so often goes undiagnosed or the diagnosis is delayed. CD, if undiagnosed and untreated, is associated with many medical disorders including haematological (anaemia), metabolical (osteopenia/osteoporosis), obstetric-gynaecological (infertility, spontaneous abortions, late puberty, early menopause), neurological (migraine, ataxia, epilepsy) as well as with an increased risk of malignancy, especially: enteropathy-associated T-cell lymphoma, small intestine adenocarcinoma, and oesophageal and oropharyngeal carcinomas. Early introduction of a gluten-free diet and lifelong adherence to this treatment decreases the risk of these complications.

  18. Autoimmune diseases in a Nigerian woman--a case report. (United States)

    Talabi, O A; Owolabi, M O; Osotimehin, B O


    Autoimmune diseases (AD) are conditions in which there is the development of antibodies against self cells/ organs. AD could either be organ-specific or non-organ specific (systemic) in clinical presentation. Commonly reported ADs includes: Myasthenia gravis, Hashimoto thyroiditis, Guillian-Barre syndrome, vitiligo, type 1 diabetes mellitus, Graves diseases, Goodpastures syndrome, pemphigus, rheumatoid arthritis, systemic lupus erythematosis, Addisons disease, multiple sclerosis, pernicious anaemia, autoimmune haemolytic anaemia, chronic active hepatitis, idiopathic thrombocytopenic purpura. There is paucity of locally documented information on the occurrence of AD in same patient in our environment. We therefore report the case of a 66 year old woman who presented at the University College Hospital (UCH), Ibadan, with a spectrum of the AD, Vitiligo, rheumatoid arthritis, myasthenia gravis, impaired glucose tolerance.

  19. Endocrine manifestations in celiac disease. (United States)

    Freeman, Hugh James


    Celiac disease (CD) is an autoimmune small intestinal mucosal disorder that often presents with diarrhea, malabsorption and weight loss. Often, one or more associated endocrine disorders may be associated with CD. For this review, methods involved an extensive review of published English-language materials. In children and adolescents, prospective studies have demonstrated a significant relationship to insulin-dependent or type 1 diabetes, whereas in adults, autoimmune forms of thyroid disease, particularly hypothyroidism, may commonly co-exist. In some with CD, multiple glandular endocrinopathies may also occur and complicate the initial presentation of the intestinal disease. In others presenting with an apparent isolated endocrine disorder, serological screening for underlying subclinical CD may prove to be positive, particularly if type 1 diabetes, autoimmune thyroid or other autoimmune endocrine diseases, such as Addison's disease are first detected. A number of reports have also recorded hypoparathyroidism or hypopituitarism or ovarian failure in CD and these may be improved with a strict gluten-free diet.

  20. Acute adrenal crisis (United States)

    ... adrenal gland is damaged due to, for example, Addison disease or other adrenal gland disease, and surgery The ... Call your health care provider if you have Addison disease and are unable to take your glucocorticoid medicine ...


    DEFF Research Database (Denmark)

    Pletscher-Frankild, Sune; Pallejà, Albert; Tsafou, Kalliopi


    Text mining is a flexible technology that can be applied to numerous different tasks in biology and medicine. We present a system for extracting disease-gene associations from biomedical abstracts. The system consists of a highly efficient dictionary-based tagger for named entity recognition...... of human genes and diseases, which we combine with a scoring scheme that takes into account co-occurrences both within and between sentences. We show that this approach is able to extract half of all manually curated associations with a false positive rate of only 0.16%. Nonetheless, text mining should...... not stand alone, but be combined with other types of evidence. For this reason, we have developed the DISEASES resource, which integrates the results from text mining with manually curated disease-gene associations, cancer mutation data, and genome-wide association studies from existing databases...

  2. [Autoimmune polyendocrine syndrome type 2 associated with autoimmune hypophysitis and coeliac disease]. (United States)

    Hrubisková, K; Jackuliak, P; Vanuga, P; Pura, M; Payer, J


    Autoimmune polyendocrine syndromes (APS) are organ-specific autoimmune disorders affecting multiple endocrine glands; these are gradually destroyed by action of autoantibodies. Similarly to other autoimmune diseases, the presence of certain genetic predisposition is an essential prerequisite to the disease development; polymorphism of the main histocompatible system (HLA in humans) appears to play the most important role. APS are categorized into four types, based on what combination of endocrine glands is affected. APS type 1, characterised by hypoparathyreosis, mucocutaneous candidiasis and Addison's disease, is frequently seen in childhood. For a more common APS type 2 to be diagnosed, Addison's disease together with autoimmune thyroiditis (Schmidt's syndrome) and/or together with diabetes mellitus type I (Carpenter's syndrome) must be present. The third type of autoimmune polyendocrine syndromes (APS type 3) involves the same disorder of endocrine glands as type 2 but usually without any defect of adrenal cortex. If the autoimmune endocrine gland disorder does not fulfil the criteria of APS 1-3, the disease may be categorized as autoimmune polyendocrine syndrome type 4. The authors present a case of 33 years old APS type 2 patient who, over 20 years, developed a wide range of autoimmune endocrinopathies, including endocrinopathies that are less common, such as adenohypophysitis, and are associated with other organ-specific diseases (coeliac disease). The case is presented to demonstrate the fact that APS represent a dynamic process and that it is always important to keep in mind that, over time, a patient may develop other autoimmune diseases. To conclude, the authors emphasise the recommendation to test patients with monoglandular endocrinopathy for the presence of any secondary endocrine disorders.

  3. disease

    African Journals Online (AJOL)

    Objective. To undertake an economic evaluation of the administration and monitoring costs of the two different forms of heparin in patients with unstable coronary artery disease (DCAD). Study design. Equivalent efficacy was found for low- molecular-weight heparin (LMWH) and for unfraction- ated heparin (UFH) in the ...

  4. Cortisol Test (United States)

    ... cortisol, or to help diagnose adrenal insufficiency or Addison disease , conditions associated with deficient cortisol. Cortisol is a ... a low level of cortisol, adrenal insufficiency or Addison disease , such as: Weight loss Muscle weakness Fatigue Low ...

  5. 24-hour urinary aldosterone excretion rate (United States)

    ... Laxative abuse Lower than normal levels may indicate Addison disease . Risks There are no risks with this test. ... and the A.D.A.M. Editorial team. Addison Disease Read more Adrenal Gland Disorders Read more Latest ...

  6. Sodium Test (United States)

    ... low levels of cortisol, aldosterone and sex hormones ( Addison disease ) Drinking too much water as might occur during ... urinary sodium levels may indicate diuretic use or Addison disease. Sodium levels are often evaluated in relation to ...

  7. Orthostatic Hypotension (United States)

    ... bed rest. The disorder may be associated with Addison's disease, diabetes, and certain neurological disorders including Multiple System ... bed rest. The disorder may be associated with Addison's disease, diabetes, and certain neurological disorders including Multiple System ...

  8. ACTH (cosyntropin) stimulation test (United States)

    ... you have an adrenal gland problem, such as Addison disease , or pituitary insufficiency . It is also used to ... that occurs when there is not enough cortisol) Addison disease (adrenal glands do not produce enough cortisol) Hypopituitarism ( ...

  9. Associations between Klinefelter's syndrome and autoimmune diseases: English national record linkage studies. (United States)

    Seminog, Olena O; Seminog, Alla B; Yeates, David; Goldacre, Michael J


    There are reports suggesting that people with Klinefelter's syndrome (KS) may be at increased risk of some autoimmune diseases, but the evidence is not substantial. We wanted to add to the evidence by systematically assessing the risk of autoimmune diseases in a national cohort of people with KS. We selected records of all people with KS in a record-linked dataset of all hospital day cases and inpatient admissions in England, 1999-2011; and we followed them up by electronic record linkage to identify the occurrence of autoimmune diseases. We compared their occurrence in the KS cohort with a control cohort, studied in the same way, and expressed the results as rate ratios (RR). Of 30 autoimmune diseases studied in people with KS, there were significantly increased risks of seven-Addison's disease (RR 11.7, 95% confidence interval 2.4-34.4), diabetes mellitus type 1 (6.1, 4.4-8.3), multiple sclerosis (4.3, 1.2-11.0), acquired hypothyroidism (2.7, 1.8-4.0), rheumatoid arthritis (3.3, 2.0-5.2), Sjogren's syndrome (19.3, 4.0-57.0) and systemic lupus erythematosus (18.1, 2.2-65.6). We concluded that people with KS have increased risk of some autoimmune diseases, particularly those that are female-predominant. The increased risk of autoimmune diseases associated with the XXY karyotype may hold clues to the pathogenesis of some aspects of autoimmunity.

  10. Dementia due to metabolic causes (United States)

    Chronic brain - metabolic; Mild cognitive - metabolic; MCI - metabolic ... Possible metabolic causes of dementia include: Hormonal disorders, such as Addison disease , Cushing disease Heavy metal exposure, such as ...

  11. Subsequent Type 2 Diabetes in Patients with Autoimmune Disease. (United States)

    Hemminki, Kari; Liu, Xiangdong; Försti, Asta; Sundquist, Jan; Sundquist, Kristina; Ji, Jianguang


    Immunological data show that type 2 diabetes (T2D) manifests autoimmune features. We wanted to test the association epidemiologically by assessing subsequent diagnosis of T2D following diagnosis of autoimmune disease (AId) and subsequent AId after T2D in the same individuals. Patients were identified from three Swedish health databases. A total of 32 different AId were included. Standardized incidence ratios (SIRs) were calculated for T2D diagnosis in patients with previously diagnosed AId and compared to those without a previous AId. Among a total of 757,368 AId patients, 15,103 were diagnosed with T2D, giving an overall SIR for T2D of 1.66. T2D risks were increased after 27 AIds; the highest SIRs were noted for chorea minor (8.00), lupoid hepatitis (5.75), and Addison disease (2.63). T2D was increased after 27 of 32 AIds but we were unable to control for factors such as obesity and smoking. However, the clearly increased risks for T2D in most types of AId patients, and in reverse order increased risks for AId after T2D, do not support an overall confounding by life-style factors. Mechanistic links shared by T2D, AId and life-style factors such as obesity, perhaps through chronic inflammation, may drive autoimmune activation of T2D and many AIds.

  12. Disease: H00176 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available s can be subdivided into four main categories: Childhood cerebral adrenoleukodystrophy (CCER), adrenomyelone...THORS ... Moser HW, Mahmood A, Raymond GV ... TITLE ... X-linked adrenoleukodystrophy. ... JOURNAL ... Nat Clin Prac... S, Wanders RJ ... TITLE ... X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-tr... H00176 Adrenoleukodystrophy (ALD), including: Schilder-Addison Complex; Childhood cerebral adrenoleukodystr...ophy (CCER); Adrenomyeloneuropathy (AMN) Adrenoleukodystrophy (ALD) is an X-linked

  13. Risk of cancer of unknown primary after hospitalization for autoimmune diseases. (United States)

    Hemminki, Kari; Sundquist, Kristina; Sundquist, Jan; Ji, Jianguang


    Cancer of unknown primary (CUP) is a heterogeneous syndrome diagnosed at metastatic sites. The etiology is unknown but immune dysfunction may be a contributing factor. Patients with autoimmune diseases were identified from the Swedish Hospital Discharge Register and linked to the Swedish Cancer Registry. Standardized incidence ratios (SIRs) were calculated for subsequent CUP and compared with subjects without autoimmune diseases. A total of 789,681 patients were hospitalized for any of 32 autoimmune diseases during years 1964-2012; 2,658 developed subsequent CUP, giving an overall SIR of 1.27. A total of 16 autoimmune diseases were associated with an increased risk for CUP; polymyositis/dermatomyositis showed the highest SIR of 3.51, followed by primary biliary cirrhosis (1.81) and Addison's disease (1.77). CUP risk is known to be reduced in long-time users of pain-relieving nonsteroidal anti-inflammatory drugs (NSAIDs), such as aspirin. For patients with ankylosing spondylitis and with some other autoimmune diseases, with assumed chronic medication by NSAIDSs, CUP risks decreased in long-term follow-up. The overall risk of CUP was increased among patients diagnosed with autoimmune diseases, which call for clinical attention and suggest a possible role of immune dysfunction in CUP. The associations with many autoimmune diseases were weak which may imply that autoimmunity may not synergize with CUP-related immune dysfunction. However, long-term NSAID medication probably helped to curtail risks in some autoimmune diseases and CUP risks were generally higher in autoimmune diseases for which NSAIDs are not used and for these CUP appears to be a serious side effect. © 2015 UICC.

  14. Human papillomavirus vaccination of adult women and risk of autoimmune and neurological diseases. (United States)

    Hviid, A; Svanström, H; Scheller, N M; Grönlund, O; Pasternak, B; Arnheim-Dahlström, L


    Since 2006, human papillomavirus (HPV) vaccines have been introduced in many countries worldwide. Whilst safety studies have been reassuring, focus has been on the primary target group, the young adolescent girls. However, it is also important to evaluate safety in adult women where background disease rates and safety issues could differ significantly. We took advantage of the unique Danish and Swedish nationwide healthcare registers to conduct a cohort study comparing incidence rate ratios (RRs) of 45 preselected serious chronic diseases in quadrivalent HPV (qHPV)-vaccinated and qHPV-unvaccinated adult women 18-44 years of age. We used Poisson regression to estimate RRs according to qHPV vaccination status with two-sided 95% confidence intervals (95% CIs). The study cohort comprised 3 126 790 women (1 195 865 [38%] Danish and 1 930 925 [62%] Swedish) followed for 16 386 459 person-years. Vaccine uptake of at least one dose of qHPV vaccine was 8% in the cohort: 18% amongst Danish women and 2% amongst Swedish. We identified seven adverse events with statistically significant increased risks following vaccination-Hashimoto's thyroiditis, coeliac disease, localized lupus erythematosus, pemphigus vulgaris, Addison's disease, Raynaud's disease and other encephalitis, myelitis or encephalomyelitis. After taking multiple testing into account and conducting self-controlled case series analyses, coeliac disease (RR 1.56 [95% confidence interval 1.29-1.89]) was the only remaining association. Unmasking of conditions at vaccination visits is a plausible explanation for the increased risk associated with qHPV in this study because coeliac disease is underdiagnosed in Scandinavian populations. In conclusion, our study of serious adverse event rates in qHPV-vaccinated and qHPV-unvaccinated adult women 18-44 years of age did not raise any safety issues of concern. © 2017 The Association for the Publication of the Journal of Internal Medicine.

  15. Autoimmune diseases in Adult Life after Childhood Cancer in Scandinavia (ALiCCS). (United States)

    Holmqvist, Anna Sällfors; Olsen, Jørgen H; Mellemkjaer, Lene; Garwicz, Stanislaw; Hjorth, Lars; Moëll, Christian; Månsson, Bengt; Tryggvadottir, Laufey; Hasle, Henrik; Winther, Jeanette Falck


    The pattern of autoimmune diseases in childhood cancer survivors has not been investigated previously. We estimated the risk for an autoimmune disease after childhood cancer in a large, population-based setting with outcome measures from comprehensive, nationwide health registries. From the national cancer registries of Denmark, Iceland and Sweden, we identified 20 361 1-year survivors of cancer diagnosed before the age of 20 between the start of cancer registration in the 1940s and 1950s through 2008; 125 794 comparison subjects, matched by age, gender and country, were selected from national population registers. Study subjects were linked to the national hospital registers. Standardised hospitalisation rate ratios (SHRRs) and absolute excess risks (AERs) were calculated. Childhood cancer survivors had a significantly increased SHRR of 1.4 (95% CI 1.3 to 1.5) of all autoimmune diseases combined, corresponding to an AER of 67 per 100 000 person-years. The SHRRs were significantly increased for autoimmune haemolytic anaemia (16.3), Addison's disease (13.9), polyarteritis nodosa (5.8), chronic rheumatic heart disease (4.5), localised scleroderma (3.6), idiopathic thrombocytopenic purpura (3.4), Hashimoto's thyroiditis (3.1), pernicious anaemia (2.7), sarcoidosis (2.2), Sjögren's syndrome (2.0) and insulin-dependent diabetes mellitus (1.6). The SHRRs for any autoimmune disease were significantly increased after leukaemia (SHRR 1.6), Hodgkin's lymphoma (1.6), renal tumours (1.6) and central nervous system neoplasms (1.4). Childhood cancer survivors are at increased risk for certain types of autoimmune diseases. These findings underscore the need for prolonged follow-up of these survivors. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to

  16. 2012 - Black & White - Addison, Orange, Washington (0.5m) (United States)

    Vermont Center for Geographic Information — (Link to Metadata) This metadata record describes the acquisition and production of the greyscale digital orthoimagery covering a portion of Vermont State. The...

  17. 2012 - Color & Infrared - Addison, Orange, Washington (0.5m) (United States)

    Vermont Center for Geographic Information — (Link to Metadata) This metadata record describes the acquisition and production of natural color and color infrared digital ground orthoimagery covering a portion...

  18. DOE ZERH Case Study: Addison Homes, Cobbler Lane, Simpsonville, SC

    Energy Technology Data Exchange (ETDEWEB)



    Case study of a DOE 2015 Housing Innovation Award winning custom home in the mixed humid climate that got a HERS 41 without PV, with 2x4 16” on-center walls with 1 inch rigid foam, a sealed conditioned crawl space insulated on inside with 2 inches poly iso, a vented attic with R-38 blown fiberglass, a central heat pump with fresh air intake.

  19. AFB (Acid-Fast Bacillus) Smear and Culture (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... and nursing homes. Those who are very young, elderly, or have preexisting diseases and conditions, such as ...

  20. Heart Disease (United States)

    ... type of heart disease you have. Symptoms of heart disease in your blood vessels (atherosclerotic disease) Cardiovascular disease ... can sometimes be found early with regular evaluations. Heart disease symptoms caused by abnormal heartbeats (heart arrhythmias) A ...

  1. Autoimmune Diseases in Children and Adults With Type 1 Diabetes From the T1D Exchange Clinic Registry. (United States)

    Hughes, Jing W; Riddlesworth, Tonya D; DiMeglio, Linda A; Miller, Kellee M; Rickels, Michael R; McGill, Janet B


    Type 1 diabetes (T1D) is associated with other autoimmune diseases (AIDs), but the prevalence and associated predictive factors for these comorbidities of T1D across all age groups have not been fully characterized. Data obtained from 25 759 participants with T1D enrolled in the T1D Exchange Registry were used to analyze the types and frequency of AIDs as well as their relationships to gender, age, and race/ethnicity. Diagnoses of autoimmune diseases, represented as ordinal categories (0, 1, 2, 3, or more AIDs) were obtained from medical records of Exchange Registry participants. Among the 25 759 T1D Exchange participants, 50% were female, 82% non-Hispanic white, mean age was 23.0 ± 16.9 years and mean duration of diabetes was 11 years. Of these participants, 6876 (27%) were diagnosed with at least one AID. Frequency of two or more AIDs increased from 4.3% in participants aged younger than 13 years to 10.4% in those aged 50 years or older. The most common AIDs were thyroid (6097, 24%), gastrointestinal (1530, 6%), and collagen vascular diseases (432, 2%). Addison's disease was rare (75, 0.3%). The prevalence of one or more AIDs was increased in females and non-Hispanic whites and with older age. In the T1D Exchange Clinic Registry, a diagnosis of one or more AIDs in addition to T1D is common, particularly in women, non-Hispanic whites, and older individuals. Results of this study have implications for both primary care and endocrine practice and will allow clinicians to better anticipate and manage the additional AIDs that develop in patients with T1D.

  2. Pneumococcal Disease (United States)

    ... Pneumococcal disease is a very serious infection that causes pneumonia, meningitis, and bloodstream infection (sepsis). About one million ... when someone gets pneumococcal disease? Pneumococcal disease can cause pneumonia, meningitis, or bloodstream infection. People with pneumococcal disease ...

  3. Autoimmune Diseases (United States)

    ... autoimmune diseases are rare, while others, such as Hashimoto's disease, affect many people. Who gets autoimmune diseases? ... often occur on both sides of the body. Hashimoto's (hah-shee-MOH-tohz) disease (underactive thyroid) A ...

  4. High potassium level (United States)

    ... the blood. This buildup can be due to: Addison disease . Disease in which the adrenal glands do not ... used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed ...

  5. Autoimmune disorders (United States)

    ... at the same time. Common autoimmune disorders include: Addison disease Celiac disease - sprue (gluten-sensitive enteropathy) Dermatomyositis Graves ... In: McPherson RA, Pincus MR, eds. Henry's Clinical Diagnosis and Management by Laboratory Methods . 22nd ed. Philadelphia, ...

  6. Tips to Help Children through Their Medical Tests (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... Tips on Blood Testing Tips to Help the Elderly through Their Medical Tests Elsewhere On The Web ...

  7. ADH (Antidiuretic Hormone) Test (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... 2009 December 28). What Causes Hyponatremia in an Elderly Patient? Medscape Today [On-line information]. Available online ...

  8. Procalcitonin Test (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... more common in newborns, infants, and in the elderly, but other people at risk include post-surgery ...

  9. Tips on Blood Testing (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... the anatomy and needs of children and the elderly. Knowing that the person collecting the sample has ...

  10. White Blood Cell Count (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... smoking status. It is not uncommon for the elderly to fail to develop high WBC count ( leukocytosis ) ...

  11. Hepatitis A Test (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... A tends to be more severe in the elderly and in those who also have chronic liver ...

  12. TB Screening Tests (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... of the individual. Even when infected, children, the elderly, and people who are severely immune compromised (such ...

  13. RSV Test (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... spring in the U.S.) and an infant, an elderly person, or a person with a weakened immune ...

  14. D-dimer Test (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... know? D-dimer concentrations may rise in the elderly, and false positives may be seen with high ...

  15. Parvovirus B19 Test (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... as 50% of adults and 85% of the elderly have been infected with parvovirus B19, usually as ...

  16. Coping with Test Pain, Discomfort, and Anxiety (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... through Their Medical Tests Tips to Help the Elderly through Their Medical Tests Collecting Samples for Laboratory ...

  17. Collecting Samples for Testing (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... through Their Medical Tests Tips to Help the Elderly through Their Medical Tests Related Video View More × ...

  18. Methylmalonic Acid Test (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... at high risk without symptoms, such as the elderly, or when certain medications have been taken for ...

  19. DHEAS Test (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... for Teens (Ages 13-18) Screening Tests for Young Adults (Ages 19-29) Screening Tests for Adults ( ...

  20. CMV (United States)

    ... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... for Teens (Ages 13-18) Screening Tests for Young Adults (Ages 19-29) Screening Tests for Adults ( ...

  1. Hypoparathyroidism (United States)

    ... sometimes interfere with kidney function, or even cause kidney failure. Hypoparathyroidism increases the risk of: Addison disease (only if the cause is autoimmune) Cataracts Parkinson disease Pernicious anemia (only if the ...

  2. Behcet's Disease (United States)

    ... are here: Home / Types of Vasculitis / Behcet’s Disease Behcet’s Disease First Description Who gets Behcet’s Disease (the “typical” ... for Behcet’s Disease is Behcet’s syndrome . Who gets Behcet’s Disease (the “typical” patient)? Behcet’s disease is most common ...

  3. Schimidt Syndrome: An Unusual Cause of Hypercalcaemia. (United States)

    Jose, Nisha; Kurian, George Prashanth


    Autoimmune polyglandular syndrome type 2 also known as Schmidt syndrome. It is a rare disorder involving a combination of Addison's disease with autoimmune thyroid disease with or without type 1 diabetes mellitus. In this case report one such patient with this rare syndrome is described who presented with hyperpigmentation of knuckles, palms and soles with significant weight loss for 2 months. At presentation she also had severe hypercalcaemia. Severe hypercalcaemia is rare and hypercalcaemia at the initial presentation of Addison's disease is also unusual. The mechanism of hypercalcaemia in addisons and management of this patient is discussed.

  4. Valve Disease (United States)

    ... See also on this site: Diseases of the Mitral Valve Diseases of the Aortic Valve Diseases of the Tricuspid ... most invasive option for the treatment of valve disease. During surgery, ... defects of the mitral valve. Replacement is used to treat any diseased ...

  5. Kawasaki Disease (United States)

    Kawasaki disease is a rare childhood disease. It makes the walls of the blood vessels in the ... veins, and capillaries. No one knows what causes Kawasaki disease. Symptoms include High fever that lasts longer ...

  6. Whipple's Disease (United States)

    ... way to prevent Whipple disease. Eating, Diet, and Nutrition A person with Whipple disease and malabsorption may need a diet high in calories and protein vitamins nutritional supplements People with Whipple disease should discuss their nutritional ...

  7. Celiac Disease (United States)

    ... diabetes, rheumatoid arthritis, autoimmune thyroid or liver disease, Addison’s disease, or Sjogren’s syndrome.Have a genetic disorder such ... results will confirm that you have celiac disease. Diagnosis of dermatitis herpetiformis with a positive blood test ...

  8. Alzheimer's Disease (United States)

    Alzheimer's disease (AD) is the most common form of dementia among older people. Dementia is a brain disorder that ... higher if a family member has had the disease. No treatment can stop the disease. However, some ...

  9. Huntington's Disease (United States)

    Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste ... express emotions. If one of your parents has Huntington's disease, you have a 50 percent chance of ...

  10. Alzheimer Disease (United States)

    ... CPR: A Real Lifesaver Kids Talk About: Coaches Alzheimer Disease KidsHealth > For Kids > Alzheimer Disease Print A A ... slow it down. When Someone You Love Has Alzheimer Disease You might feel sad or angry — or both — ...

  11. Moyamoya Disease (United States)

    ... Page You are here Home » Disorders » All Disorders Moyamoya Disease Information Page Moyamoya Disease Information Page What research is being done? ... Definition Treatment Prognosis Clinical Trials ... Publications Definition Moyamoya disease is a rare, progressive cerebrovascular disorder caused ...

  12. Crohn's Disease (United States)

    Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory ... small intestine called the ileum. The cause of Crohn's disease is unknown. It may be due to an ...

  13. Wilson Disease (United States)

    ... Liver Foundation March of Dimes National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Wilson Disease Association See all related organizations Publications Order NINDS Publications Definition Wilson disease (WD) is a rare inherited disorder ...

  14. Ribbing disease

    Directory of Open Access Journals (Sweden)

    Mukkada Philson


    Full Text Available Ribbing disease is a rare sclerosing dysplasia that involves long tubular bones, especially the tibia and femur. It occurs after puberty and is reported to be more common in women. In this article we describe how Ribbing disease can be differentiated from diseases like Engelmann-Camurati disease, van Buchem disease, Erdheim-Chester disease, osteoid osteoma, chronic osteomyelitis, stress fracture, etc.

  15. Reportable diseases (United States)

    ... Listeriosis Lyme disease Malaria Measles Meningitis (meningococcal disease) Mumps Novel influenza A virus infections Pertussis Plague Poliomyelitis Poliovirus infection, nonparalytic Psittacosis ...

  16. Heart Diseases (United States)

    ... you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the ... of disability. There are many different forms of heart disease. The most common cause of heart disease ...

  17. Adrenal Gland Disorders (United States)

    ... has many other important functions. With adrenal gland disorders, your glands make too much or not enough ... syndrome, there's too much cortisol, while with Addison's disease, there is too little. Some people are born ...

  18. Chloride test - blood (United States)

    ... is called hypochloremia. It may be due to: Addison disease Bartter syndrome Burns Congestive heart failure Dehydration Excessive ... used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed ...

  19. Sodium blood test (United States)

    ... Adrenal glands not making enough of their hormones ( Addison disease ) Buildup in urine of waste product from fat ... used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed ...

  20. 17-hydroxycorticosteroids (United States)

    ... and the A.D.A.M. Editorial team. Addison Disease Read more Adrenal Gland Disorders Read more Cushing's ... used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed ...

  1. What Are the Treatments for Adrenal Gland Disorders? (United States)

    ... cortisol and/or aldosterone that the body is lacking. People with Addison's disease take medication (usually by ... flickr NEWSROOM NICHD News Videos OUTREACH Safe to Sleep® National Child & Maternal Health Education Program RELATED WEBSITES ...

  2. Renin blood test (United States)

    ... enough hormones ( Addison disease or other adrenal gland insufficiency) Bleeding (hemorrhage) Heart failure High blood pressure caused by narrowing of the kidney arteries ( renovascular hypertension ) Liver scarring and poor liver ...

  3. Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population.

    NARCIS (Netherlands)

    Sanches, S.A.; Wiegers, T.A.; Otten, B.J.; Claahsen-van der Grinten, H.L.


    ABSTRACT: BACKGROUND: Most research concerning congenital adrenal hyperplasia (CAH) and related conditions caused by primary adrenal insufficiency, such as Addison's or Cushing's disease, has focused on medical aspects rather than on patients' quality of life. Therefore, our objective was to

  4. [Social diseases, civilization diseases or lifestyle diseases?]. (United States)

    Betlejewski, Stansław


    In general, the development of civilization is viewed as a positive step for the well-being of the human species, leading to an increased duration and quality of life. The accelerated progress of civilization (mainly industrialization, urbanization and nutrition) has lead to new possibilities for adverse effects on human health. In former high civilization--like old Egypt, Greece, Roman, Chinese, Indian, Maya civilizations--the "modem civilization diseases" were unknown. Modem science through improved sanitation, vaccination and antibiotics as well as improved social and economical conditions, has eliminated the threat of death from most infectious diseases. In the years after World War II the social, economic and health conditions changed. Most deaths have resulted from heart disease, stroke, cancer and other diseases as a result of an inappropriate relationship of people with their environment and changed lifestyle. Lifestyle diseases are different from other diseases because they are potentially preventable and can be lowered with changes in diet, lifestyle and environment.

  5. Kimura disease (United States)

    AlGhamdi, Fares E.; Al-Khatib, Talal A.; Marzouki, Hani Z.; AlGarni, Mohammed A


    Kimura disease is a chronic inflammatory disease that mainly manifests as a lump in the cervical region. Although the underlying pathophysiology is not clear yet, the diagnosis can be established based on specific histopathological characteristics. The first case of this disease was described in China, as well as the majority of subsequent cases that were also described in the Far East countries made Kimura disease traditionally a disease of adult patients of Asian descent. This report describes the occurrence of Kimura disease in pediatric non-Asian patient with a similar clinicopathologic presentation. PMID:26905356

  6. Digestive Diseases (United States)

    ... Control Problems (Fecal Incontinence) Gas Lactose Intolerance Diarrhea Diverticulosis & Diverticulitis Acid Reflux (GER & GERD) More Digestive Disease ... Polyps Constipation Crohn's Disease Cyclic Vomiting ... and Diverticulitis Dumping Syndrome Foodborne Illnesses Gallstones Gas ...

  7. Heart Disease (United States)

    ... Awareness Day National Women's Health Week Supporting Nursing Moms at Work Popular Topics Autoimmune diseases Breastfeeding Carpal tunnel syndrome ... Awareness Day National Women's Health Week Supporting Nursing Moms at Work Popular Topics Autoimmune diseases Breastfeeding Carpal tunnel syndrome ...

  8. Coeliac disease

    African Journals Online (AJOL)


    . Coeliac disease, often called coeliac sprue, is an autoimmune disorder of the small intestine which occurs in genetically predisposed people. Coeliac disease is not an allergy or intolerance to gluten. It can present at all ages,.

  9. Parkinson's Disease (United States)

    Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't ... coordination As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple ...

  10. Raynaud's Disease (United States)

    Raynaud's disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the ... secondary Raynaud's, which is caused by injuries, other diseases, or certain medicines. People in colder climates are ...

  11. Wilson Disease (United States)

    Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need ... copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and ...

  12. Fifth Disease (United States)

    Fifth disease is a viral infection caused by parvovirus B19. The virus only infects humans; it's not the same parvovirus that dogs and cats can get. Fifth disease mostly affects children. Symptoms can include a low ...

  13. Meniere's Disease (United States)

    Meniere's disease is a disorder of the inner ear. It can cause severe dizziness, a roaring sound in your ... together over several days. Some people with Meniere's disease have "drop attacks" during which the dizziness is ...

  14. Gaucher Disease (United States)

    Gaucher disease is a rare, inherited disorder. It is a type of lipid metabolism disorder. If you have it, ... It usually starts in childhood or adolescence. Gaucher disease has no cure. Treatment options for types 1 ...

  15. Kidney Diseases (United States)

    ... urine until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys ... or medicines. You have a higher risk of kidney disease if you have diabetes, high blood pressure, or ...

  16. Parkinson disease (United States)

    ... this page: // Parkinson disease To use the sharing features on this page, please enable JavaScript. Parkinson disease causes certain brain cells to die. These ...

  17. Legionnaire disease (United States)

    ... disease is less severe. Risk factors include: Alcohol abuse Cigarette smoking Chronic illnesses, such as kidney failure ... Antibiotics are used to fight the infection. Treatment is started as soon as Legionnaire disease is suspected, ...

  18. Liver disease (United States)

    ... this page: // Liver disease To use the sharing features on this page, please enable JavaScript. The term "liver disease" applies to many conditions that stop the ...

  19. Liver Diseases (United States)

    Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases: Diseases caused by viruses, such as hepatitis ...

  20. Lyme Disease (United States)

    ... can also spread to the nervous system, causing facial paralysis ( Bell's palsy ), or meningitis. The last stage of ... symptoms, joint pain or a swollen joint, or facial paralysis. How Is Lyme Disease Treated? Lyme disease is ...

  1. Liver Disease (United States)

    ... from one or both of your parents can cause various substances to build up in your liver, resulting in liver damage. Genetic liver diseases include: Hemochromatosis Hyperoxaluria and oxalosis Wilson's disease Cancer and other growths Examples include: Liver cancer Bile ...

  2. Whipple Disease (United States)

    ... ed. Sleisenger and Fordtran’s Gastrointestinal and Liver Disease: Pathophysiology/ Diagnosis/Management. 9th ed. Philadelphia: Saunders; 2010: 1833– ... treatment. Hope through Research The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) conducts and ...

  3. Alexander Disease (United States)

    ... may be other genetic or perhaps even non-genetic causes of Alexander disease. Current research is aimed at understanding the mechanisms by which the mutations cause disease, developing better animal models for the disorder, and exploring potential strategies ...

  4. Alpers' Disease (United States)

    ... Alpers-like" phenotype without liver disease have POLG mutations. × Definition Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical ...

  5. Farber's Disease (United States)

    ... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Farber’s disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids ( ...

  6. Graves disease (United States)

    ... this page: // Graves disease To use the sharing features on this page, please enable JavaScript. Graves disease is an autoimmune disorder that leads to an ...

  7. Buerger's Disease (United States)

    ... is linked to the development of Buerger's disease. Sex Buerger's disease is far more common in males ... Clinic does not endorse any of the third party products and services advertised. Advertising and sponsorship policy ...

  8. Meniere's Disease (United States)

    ... of Meniere's disease isn't understood. One popular theory that hasn't been proved is that Meniere's ... Medical Education and Research; 2015. Foster CA. Optimal management of Meniere's disease. Therapeutics and Clinical Risk Management. ...

  9. Fungal Diseases (United States)

    ... Patients Medications that Weaken Your Immune System Outbreaks Rhizopus Investigation CDC at Work Global Fungal Diseases Cryptococcal ... September 6, 2017 Content source: Centers for Disease Control and Prevention National Center for Emerging and Zoonotic ...

  10. Chagas Disease (United States)

    Chagas disease is caused by a parasite. It is common in Latin America but not in the United ... There are no vaccines or medicines to prevent Chagas disease. If you travel to areas where it occurs, ...

  11. Kidney Disease (United States)

    ... Breath? Talking to Your Parents - or Other Adults Kidney Disease KidsHealth > For Teens > Kidney Disease Print A A A What's in this article? ... uh-jist), a doctor who specializes in treating kidney diseases. The doctor will ask you about any concerns ...

  12. Legionnaires' Disease (United States)

    ... get sick if you Are older than 50 Smoke Have a chronic lung disease Have a weak immune system Legionnaires' disease is serious and can be life-threatening. However, most people recover with antibiotic treatment. Centers for Disease Control and Prevention

  13. Lyme Disease (United States)

    ... common are at higher risk of getting tick-borne diseases. How is Lyme disease diagnosed? It can be ... If clothes are dirty, wash them in hot water and dry on high heat for 60 minutes. Lyme disease treatment What do I do if I find ...

  14. Infectious Diseases

    International Development Research Centre (IDRC) Digital Library (Canada)

    GeneratinG knowledGe. IDRC-supported researchers have successfully applied ecohealth approaches to produce knowledge on the root causes of infectious diseases worldwide. Fighting chagas disease in guatemala. Chagas disease is a serious infection transmitted from animals to humans by a reduvidae bug. In.

  15. Lyme Disease. (United States)

    Taylor, George C.


    This overview of the public health significance of Lyme disease includes the microbiological specifics of the infectious spirochete, the entomology and ecology of the ticks which are the primary disease carrier, the clinical aspects and treatment stages, the known epidemiological patterns, and strategies for disease control and for expanded public…

  16. Lyme Disease


    Ozdemir, Davut; İnce, Nevin


    Lyme disease (LD) is caused by the spirochete, Borrelia burgdorferi sensu lato complex. Humans are infected by a tick bite to the skin. This disease is a non-contagious infectious disease. It has been known since the 19th century. LD has a worldwide distribution. It is endemic in Europe, North and South America. There are case reports since 1990 in Turkey. The clinical presentation varies depending on the stage of the disease. Lyme disease is classified into three stages: early localized dise...

  17. [Tangier disease]. (United States)

    Saku, K; Jimi, S; Ohta, T; Arakawa, K


    Tangier disease, a familial HDL-deficiency syndrome, was first reported by Fredrickson et al. in 1961. Since then, a great deal research on the mechanism of HDL-deficiency in this disease has been done from the prospective of lipoprotein compositions, in vivo HDL kinetics, cell and receptor interactions and genomic DNA analysis. These studies have found a relatively increased fractional catabolic rate of apo HDL with essentially no change in the synthesis of apo HDL. As yet, no structural defect has been found in the apo A-I gene. However, there have been reports of irregular lipid metabolism and of disorders in the Golgi apparatus and lysosome processing. Interestingly, the frequency of coronary heart disease is low in patients with Tangier disease. In this report, we describe the clinical and biochemical characteristics of Tangier disease and suggest some possible mechanisms for preventing coronary heart disease.

  18. Morgellons Disease


    Ohn, Jungyoon; Park, Seon Yong; Moon, Jungyoon; Choe, Yun Seon; Kim, Kyu Han


    Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination sho...

  19. Infectious disease (United States)

    Pierson, Duane L.


    This is a collection of viewgraphs on the Johnson Space Center's work on infectious disease. It addresses their major concern over outbreaks of infectious disease that could jeopardize the health, safety and/or performance of crew members engaged in long duration space missions. The Antarctic environment is seen as an analogous location on Earth and a good place to carry out such infectious disease studies and methods for proposed studies as suggested.

  20. Celiac disease

    Directory of Open Access Journals (Sweden)

    Radlović Nedeljko


    Full Text Available Celiac disease is a multysystemic autoimmune disease induced by gluten in wheat, barley and rye. It is characterized by polygenic predisposition, high prevalence (1%, widely heterogeneous expression and frequent association with other autoimmune diseases, selective deficit of IgA and Down, Turner and Williams syndrome. The basis of the disease and the key finding in its diagnostics is symptomatic or asymptomatic inflammation of the small intestinal mucosa which resolves by gluten-free diet. Therefore, the basis of the treatment involves elimination diet, so that the disorder, if timely recognized and adequately treated, also characterizes excellent prognosis.

  1. Celiac disease

    Directory of Open Access Journals (Sweden)

    Holtmeier Wolfgang


    Full Text Available Abstract Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. The main symptoms are: stomach pain, gas, and bloating, diarrhea, weight loss, anemia, edema, bone or joint pain. Prevalence for clinically overt celiac disease varies from 1:270 in Finland to 1:5000 in North America. Since celiac disease can be asymptomatic, most subjects are not diagnosed or they can present with atypical symptoms. Furthermore, severe inflammation of the small bowel can be present without any gastrointestinal symptoms. The diagnosis should be made early since celiac disease causes growth retardation in untreated children and atypical symptoms like infertility or neurological symptoms. Diagnosis requires endoscopy with jejunal biopsy. In addition, tissue-transglutaminase antibodies are important to confirm the diagnosis since there are other diseases which can mimic celiac disease. The exact cause of celiac disease is unknown but is thought to be primarily immune mediated (tissue-transglutaminase autoantigen; often the disease is inherited. Management consists in life long withdrawal of dietary gluten, which leads to significant clinical and histological improvement. However, complete normalization of histology can take years.

  2. Wilson disease (United States)

    ... nervous system and peripheral nervous system Copper urine test References Cox DW, Roberts EA. Wilson disease. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal ...

  3. Dent's disease

    National Research Council Canada - National Science Library

    Devuyst, Olivier; Thakker, Rajesh V


    Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis...

  4. [Periodontal disease]. (United States)

    Michikawa, Makoto


    It has been shown that the inflammatory pathways are activated in the brains of patients with Alzheimer disease (AD), and the use of anti-inflammatory drugs reduces risk to develop AD. It is understood that molecules involved in this inflammation promote pathological processes leading to AD, whereas other molecules work to protect neuron/brain function from toxicity found in AD pathogenesis. Periodontal disease is one of the diseases causing inflammation and recent lines of evidence show the link between these two diseases. In this paper, relationship between periodontitis and AD will be reviewed and the possible mechanisms, by which periodontitis may affect the onset and progression of AD, will be discussed.

  5. Pompe Disease (United States)

    ... reliably identified via genetic mutation analysis. View Full Definition Treatment Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory ...

  6. Sandhoff Disease (United States)

    ... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in ...

  7. Behcet's Disease (United States)

    ... Seizures Information Page Fibromuscular Dysplasia Information Page Foot Drop Information Page Friedreich's Ataxia Information Page Gaucher Disease Information Page Generalized Gangliosidoses Information Page Gerstmann's Syndrome ...

  8. Binswanger's Disease (United States)

    ... Seizures Information Page Fibromuscular Dysplasia Information Page Foot Drop Information Page Friedreich's Ataxia Information Page Gaucher Disease Information Page Generalized Gangliosidoses Information Page Gerstmann's Syndrome ...

  9. Leigh's Disease (United States)

    ... Seizures Information Page Fibromuscular Dysplasia Information Page Foot Drop Information Page Friedreich's Ataxia Information Page Gaucher Disease Information Page Generalized Gangliosidoses Information Page Gerstmann's Syndrome ...

  10. Air-Ground Integration: Preliminary Results from the Coalition Attack Guidance Experiment (The International C2 Journal Volume 5, Number 3, 2011) (United States)


    Lawrence, P.R. and J.W. Lorsch. 1969b. Developing Organizations: Diagnosis and Action. Boston, MA: Addison -Wesley Publishing Company. Marcus, A. A...Information Processing View. Interfaces 4: 28-36. Galbraith, J. R. 1977. Organization Design. Reading, MA: Addison -Wesley. Gerwin, D. 1981. Relationships...Management Journal 33: 445-477. Glouberman, S. and H. Mintzberg. 2001. Managing the Care of Health and the Cure of Disease - Part II: Integration

  11. Is "Parkinson's disease" one disease?


    Calne, D B


    Consideration is given to how and why categories of ill health are divided into diseases. Aetiology is a fundamental criterion for the delineation of individual diseases. The same clinical and pathological picture may have many different causes; for example meningococcal meningitis and pneumococcal meningitis are distinct diseases that may display the same symptoms and signs. On the other hand, a single aetiology may lead to quite separate clinical and pathological phenomena; for example, neu...

  12. Liver Disease (United States)

    ... A through E and beyond. National Institute of Diabetes and Digestive and Kidney Diseases. Accessed March 25, 2014. July 15, 2014 Original article: ...

  13. Menetrier's Disease (United States)

    ... with Ménétrier’s disease who also had Helicobacter pylori (H. pylori) infection. H. pylori is a bacterium that is a cause of ... the small intestine. In these cases, treatment for H. pylori reversed and improved the symptoms of Ménétrier’s disease. ...

  14. Pick disease (United States)

    ... rare form of dementia that is similar to Alzheimer disease , except that it tends to affect only certain areas of the brain. Causes People ... Volunteer services People with Pick disease and their family may need to seek legal advice early in the course of the disorder. ... (Prognosis) The disorder ...

  15. Sycamore diseases (United States)

    F. I. McCracken


    The canker stain disease, one of several fungi that cause cankers of sycamore, can cause serious loss of sycamores in natural stands, plantations, and urban areas. As many as 35 percent of the trees in some stands may be diseased. Affected trees develop thin crowns, twig dieback, small leaves and epicormic branches. The narrow, elongate, bark covered, flat, spiraling...

  16. Angara disease

    African Journals Online (AJOL)



    Oct 12, 2011 ... The farmers were advised to use quality vaccines against Angara disease as the vaccines can provide. 100% protection against the disease if they are given at the proper age. REFERENCES. Afzal M, Ahmed I (1990). Efficacy of an inactivated vaccine against. Hydropericardium syndrome in broilers, Vet.

  17. Crohn's Disease (United States)

    ... Syndrome (IBS) in Children Lactose Intolerance Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the Bowel Pancreatitis Definition & Facts ... Upper GI Endoscopy Related Conditions & Diseases Ulcerative Colitis Microscopic Colitis Your Digestive System & How it Works The digestive ...

  18. Infectious Diseases (United States)

    ... such as undercooked hamburger or unpasteurized fruit juice. Risk factors While anyone can catch infectious diseases, you may be more likely to get ... have been linked to a long-term increased risk of cancer: Human ... In addition, some infectious diseases may become silent, only to appear again ...

  19. Coeliac disease

    DEFF Research Database (Denmark)

    Reilly, Norelle R; Husby, Steffen; Sanders, David S


    , these guidelines are not universally accepted. In this Perspective, we discuss the pros and cons of a biopsy-avoiding pathway for the diagnosis of coeliac disease, especially in this current era of the call for more biopsies, even from the duodenal bulb, in the diagnosis of coeliac disease. In addition, a contrast...

  20. [Caroli's disease]. (United States)

    Duvnjak, Marko; Supanc, Vladimir; Virović, Lucija; Tomasić, Vedran; Dojcinović, Bojan


    Caroli's disease is a rare condition characterized by congenital polycystic dilatation of the intrahepatic bile ducts. The most frequent clinical presentation of a simple type (Caroli's disease) is recurrent cholangitis, gallstone with pain, obstructive jaundice and episodes of pancreatitis in childhood and early adulthood. A more frequent type combined with congenital hepatic fibrosis is usually manifested with bleeding from esophageal varices consequential to portal hypertension. Treatment options, both conservative and surgical, are relatively limited and depend on the clinical presentation, localization of cysts in the liver, and stage of the disease. A 20-year-old man with Caroli's disease manifested with cholelithiasis and choledocholithiasis with recurrent pancreatitis at the age of 16 is presented. The diagnosis was confirmed by endoscopic retrograde cholangiopancreatography and magnetic resonance cholangiopancreatography. Treatment with ursodeoxycholic acid was initiated and after two years of follow-up the disease is stable.

  1. Alzheimer's disease. (United States)

    Scheltens, Philip; Blennow, Kaj; Breteler, Monique M B; de Strooper, Bart; Frisoni, Giovanni B; Salloway, Stephen; Van der Flier, Wiesje Maria


    Although the prevalence of dementia continues to increase worldwide, incidence in the western world might have decreased as a result of better vascular care and improved brain health. Alzheimer's disease, the most prevalent cause of dementia, is still defined by the combined presence of amyloid and tau, but researchers are gradually moving away from the simple assumption of linear causality as proposed in the original amyloid hypothesis. Age-related, protective, and disease-promoting factors probably interact with the core mechanisms of the disease. Amyloid β42, and tau proteins are established core cerebrospinal biomarkers; novel candidate biomarkers include amyloid β oligomers and synaptic markers. MRI and fluorodeoxyglucose PET are established imaging techniques for diagnosis of Alzheimer's disease. Amyloid PET is gaining traction in the clinical arena, but validity and cost-effectiveness remain to be established. Tau PET might offer new insights and be of great help in differential diagnosis and selection of patients for trials. In the search for understanding the disease mechanism and keys to treatment, research is moving increasingly into the earliest phase of disease. Preclinical Alzheimer's disease is defined as biomarker evidence of Alzheimer's pathological changes in cognitively healthy individuals. Patients with subjective cognitive decline have been identified as a useful population in whom to look for preclinical Alzheimer's disease. Moderately positive results for interventions targeting several lifestyle factors in non-demented elderly patients and moderately positive interim results for lowering amyloid in pre-dementia Alzheimer's disease suggest that, ultimately, there will be a future in which specific anti-Alzheimer's therapy will be combined with lifestyle interventions targeting general brain health to jointly combat the disease. In this Seminar, we discuss the main developments in Alzheimer's research. Copyright © 2016 Elsevier Ltd. All

  2. Coeliac disease. (United States)

    Leeds, John S; Hopper, Andrew D; Sanders, David S


    Coeliac disease is a common but often under diagnosed condition with important complications. It is due to immune-mediated gluten intolerance and may present in a number of ways. It has become more frequently diagnosed due to the recognition of the atypical presentations. In recent years, more sensitive and specific serological markers have been developed but the gold standard of diagnosis remains duodenal biopsy. Compliance with a strict, lifelong gluten-free diet is the cornerstone of management, improving symptoms and reducing complications of the disease. For this review, we focused on papers published on coeliac disease in recent years. Particular emphasis was given to clinical papers examining new methods for the diagnosis of coeliac disease or newer therapies for managing complications. The main source was PubMed and the major gastroenterology journals. Coeliac disease is more common than once thought with a prevalence of around 1%. Diagnosis should always be confirmed with a duodenal biopsy. Management of coeliac disease with a gluten-free diet remains the cornerstone of treatment. Some complications of coeliac disease, especially neurological, are not widely accepted despite growing support from the literature. Management of enteropathy-associated lymphoma has been difficult, and the optimal therapy is not known. Current understanding is such that coeliac disease is the most widely understood autoimmune condition. 'Atypical' presentations are becoming the most common presenting features of coeliac disease. Alternatives to the gluten-free diet are about to go into clinical studies. Similarly, better serological screening tests may obviate the need for duodenal biopsy. This review will try to summarize the current understanding of coeliac disease with regard to diagnosis, management, complications and future perspectives.

  3. Celiac Disease

    Directory of Open Access Journals (Sweden)

    Manoochehr Karjoo


    Full Text Available Celiac disease also known as gluten-sensitive enteropathy is characterized by intestinal mucosal damage and malabsorption from dietary intake of wheat, rye or barley. Symptoms may appear with introduction of cereal in the first 3 years of life. A second peak in symptoms occurs in adults during the third or forth decade and even as late as eight decade of life. The prevalence of this disease is approximately 1 in 250 adults. The disease is more prevalent in Ireland as high as 1 in 120 adults. The disorder occurs in Arab, Hispanics, Israeli Jews, Iranian and European but is rare in Chinese and African American. To have celiac disease the patient should have the celiac disease genetic markers as HLA DQ 2 and HLA DQ 8. Patient with celiac disease may have 95 per cent for DQ 2 and the rest is by DQ 8. Someone may have the genetic marker and never develops the disease. In general 50 percent with markers may develop celiac disease. To develop the disease the gene needs to become activated. This may happen with a viral or bacterial infection, a surgery, delivery, accident, or psychological stress. After activation of gene cause the tight junction to opens with the release of Zonulin This results in passage of gluten through the tight junction and formation of multiple antibodies and autoimmune disease. This also allows entrance of other proteins and development of multiple food allergies. As a result is shortening, flattening of intestinal villi resulting in food, vitamins and minerals malabsorption.

  4. Thyroid diseases and cerebrovascular disease

    NARCIS (Netherlands)

    Squizzato, A.; Gerdes, V. E. A.; Brandjes, D. P. M.; Büller, H. R.; Stam, J.


    Background and Purpose-Acute cerebral ischemia has been described in different diseases of the thyroid gland, and not only as a result of thyrotoxic atrial fibrillation and cardioembolic stroke. The purpose of this review is to summarize the studies on the relationship between thyroid diseases and

  5. Morgellons Disease. (United States)

    Ohn, Jungyoon; Park, Seon Yong; Moon, Jungyoon; Choe, Yun Seon; Kim, Kyu Han


    Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination showed only mild lymphocytic infiltration, and failed to reveal evidence of any microorganism. The polymerase chain reaction for Borrelia burgdorferi was negative in her serum.

  6. Crohn's disease.

    LENUS (Irish Health Repository)

    Shanahan, Fergus


    Crohn\\'s disease is a disorder mediated by T lymphocytes which arises in genetically susceptible individuals as a result of a breakdown in the regulatory constraints on mucosal immune responses to enteric bacteria. Regulation of immune reactivity to enteric antigens has improved understanding of the pathophysiological mechanisms of Crohn\\'s disease, and has expanded therapeutic options for patients with this disorder. Disease heterogeneity is probable, with various underlying defects associated with a similar pathophysiological outcome. Although most conventional drug treatments are directed at modification of host response, therapeutic manipulation of the enteric flora is becoming a realistic option.

  7. Celiac Disease (United States)

    ... Intestinal Pseudo-obstruction Irritable Bowel Syndrome (IBS) Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Irritable Bowel Syndrome (IBS) in Children Lactose Intolerance Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the ...

  8. Infectious Diseases (United States)

    ... yeasts. Athlete's foot is a common fungal infection. Parasites - animals or plants that survive by living on or in other living things. Malaria is an infection caused by a parasite. Infectious diseases can cause many different symptoms. Some ...

  9. Raynaud's Disease (United States)

    ... who have a rare disease that leads to hardening and scarring of the skin (scleroderma) have Raynaud's. ... conditioner to a warmer temperature. Use insulated drinking glasses. By Mayo Clinic Staff . Mayo Clinic Footer Legal ...

  10. Leishmaniasis Disease (United States)

    ... Leishmaniasis General Information Leishmaniasis FAQs Epidemiology & Risk Factors Biology Disease Diagnosis Treatment Prevention & Control Resources for Health Professionals Publications Additional Resources Get Email Updates To receive email updates about this page, enter ...

  11. Diverticular Disease (United States)

    ... The most common conditions of diverticular disease are:Diverticulosis. This is the base condition where the pouches ... more common as you age. Most people with diverticulosis don’t know they have it.Diverticulitis. This ...

  12. Endocrine Diseases (United States)

    ... hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United ...

  13. Autoinflammatory Diseases (United States)

    ... Arthritis Lupus Polymyalgia Rheumatica Reactive Arthritis Psoriatic Arthritis Rheumatoid Arthritis Scleroderma Sjögren’s ... diseases refer to problems with the immune system, which usually fights off viruses, bacteria, and infection. It results when your immune cells ...

  14. Glomerular Diseases (United States)

    ... Transplant Financial Help for Treatment of Kidney Failure Lupus Nephritis Nephrotic Syndrome in Adults Pain Medicine & Kidney Damage ... has also been implicated as a triggering factor. Lupus nephritis is the name given to the kidney disease ...

  15. Stargardt Disease (United States)

    ... sharp central vision — for tasks like reading, watching television, and looking at faces. Decreased central vision is ... and ways to prevent it. A decrease in color perception also occurs in Stargardt disease. This is ...

  16. Celiac Disease (United States)

    ... wheat. However, wheat-free doesn't mean gluten-free . Lawmakers are working to make labels easier for people with celiac disease by requiring companies to identify other components, such as hidden ingredients ...

  17. Huntington's Disease (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Huntington's Disease Information ...

  18. Krabbe Disease (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Krabbe Disease Information ...

  19. Canavan Disease (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Canavan Disease Information ...

  20. Gaucher Disease (United States)

    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Gaucher Disease Information ...

  1. Thyroid Diseases (United States)

    ... gland does not make enough thyroid hormones Thyroid cancer Thyroid nodules - lumps in the thyroid gland Thyroiditis - swelling of the thyroid To diagnose thyroid diseases, doctors use a medical history, physical exam, and thyroid tests. They sometimes also ...

  2. Retinal Diseases (United States)

    ... Linked Retinoschisis (XLRS) X-Linked Retinitis Pigmentosa (XLRP) Usher Syndrome Other Retinal Diseases Glossary News & Research News & Research ... central portion of the retina called the macula. Usher Syndrome Usher syndrome is an inherited condition characterized by ...

  3. Fungal Diseases (United States)

    ... also can infect the brain, bones, and heart (endocarditis). Superficial infections can occur in children with healthy ... B. Last Updated 11/21/2015 Source Immunizations & Infectious Diseases: An Informed Parent's Guide (Copyright © 2006 American ...

  4. Crohn's disease. (United States)

    Ballester Ferré, María Pilar; Boscá-Watts, Marta Maia; Mínguez Pérez, Miguel


    Crohn's disease is a chronic inflammatory bowel disease of unknown etiology associated with an impaired immune response, with periods of activity and remission. It is characterised by patchy and transmural lesions which can affect the entire gastrointestinal tract, from the mouth to the anus. The most frequent symptoms are abdominal pain and diarrhoea, which can seriously affect patients' quality of life. The increasing incidence and prevalence of the disease in our area has had a large impact on clinical practice, with the rapid development of diagnostic and therapeutic techniques. To reduce the risk of complications, primary care physicians and gastroenterologists should be familiar with the management of the disease. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  5. Hashimoto's Disease (United States)

    ... can lead to problems during pregnancy, such as: Preeclampsia Anemia Miscarriage Placental abruption Postpartum bleeding It also ... AIDS Awareness Day National Women's Health Week Supporting Nursing Moms at Work Popular Topics Autoimmune diseases Breastfeeding ...

  6. Hirschsprung Disease (United States)

    ... but they do know it can run in families and affects boys more often than girls. In fact, Hirschsprung disease is about five times more common in males than females. Children with Down syndrome and genetic heart conditions also ...

  7. Chagas disease (United States)

    ... major health problems in South America. Due to immigration, the disease also affects people in the United ... nodes Irregular heartbeat Rapid heartbeat Tests include: Blood culture to look for signs of infection Chest x- ...

  8. Krabbe Disease (United States)

    ... A gene provides a kind of blueprint for producing proteins. If there is an error in this ... Make a donation. Patient Care & Health Info Healthy Lifestyle Symptoms A-Z Diseases & Conditions A-Z Tests & ...

  9. Fabry Disease (United States)

    ... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and ...

  10. Batten Disease (United States)

    ... SEARCH Definition Treatment ... In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are ...

  11. Parkinson's Disease (United States)

    ... a loss of neurons that produce a chemical messenger in your brain called dopamine. When dopamine levels ... Diagnosis & treatment July 07, 2015 Print Share on: Facebook Twitter References Longo DL, et al. Parkinson's disease ...

  12. Huntington disease (United States)

    ... that may be associated with this disease: Anxiety, stress, and tension Difficulty swallowing Speech impairment Symptoms in children: Rigidity Slow movements Tremor Exams and Tests The health care provider will perform ...

  13. Sever's Disease (United States)

    ... place on hard surfaces, such as track, basketball, soccer, and gymnastics. Sever's disease also can result from ... plate flat or high arch , which affects the angle of the heel within the foot, causing tightness ...

  14. Crohn disease (United States)

    Stappenbeck, Thaddeus S.; Rioux, John D.; Mizoguchi, Atsushi; Saitoh, Tatsuya; Huett, Alan; Darfeuille-Michaud, Arlette; Wileman, Tom; Mizushima, Noboru; Carding, Simon; Akira, Shizuo; Parkes, Miles; Xavier, Ramnik J.


    Crohn disease (CD) is a chronic and debilitating inflammatory condition of the gastrointestinal tract.1 Prevalence in western populations is 100–150/100,000 and somewhat higher in Ashkenazi Jews. Peak incidence is in early adult life, although any age can be affected and a majority of affected individuals progress to relapsing and chronic disease. Medical treatments rely significantly on empirical corticosteroid therapy and immunosuppression, and intestinal resectional surgery is frequently required. Thus, 80% of patients with CD come to surgery for refractory disease or complications. It is hoped that an improved understanding of pathogenic mechanisms, for example by studying the genetic basis of CD and other forms of inflammatory bowel diseases (IBD), will lead to improved therapies and possibly preventative strategies in individuals identified as being at risk. PMID:20729636

  15. [Wilson's disease


    Duclos-Vallée, Jean-Charles; Ichaï, Philippe; Chapuis, Philippe; Misrahi, Micheline; Woimant, France

    2006-01-01; Wilson's disease is an autosomal recessive disorder of copper excess. This illness results from mutations of the ATP7B gene chromosome 13. The discovery of the gene allowed a better understanding of cytosolic copper trafficking its relationship with ceruloplasmin synthesis. Symptomatic patients may present with hepatic, neurologic or psychiatric forms. Clinical and phenotypic evidences provide only presumptive arguments for this disease which can be rou...

  16. Menkes disease

    DEFF Research Database (Denmark)

    Tümer, Zeynep; Møller, Lisbeth B


    Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority...... of surplus copper from cells. Severely affected MD patients die usually before the third year of life. A cure for the disease does not exist, but very early copper-histidine treatment may correct some of the neurological symptoms....

  17. Borna disease.


    Hatalski, C G; Lewis, A J; Lipkin, W. I.


    Borna disease virus, a newly classified nonsegmented negative-strand RNA virus with international distribution, infects a broad range of warm-blooded animals from birds to primates. Infection causes movement and behavioral disturbances reminiscent of some neuropsychiatric syndromes. The virus has not been clearly linked to any human disease; however, an association between infection with the virus and selected neuropsychiatric disorders has been suggested. We reviewed recent advances in Borna...

  18. Pilonidal Disease


    Khanna, Amit; Rombeau, John L.


    Pilonidal disease presents many therapeutic challenges to surgeons throughout the world. Its varied clinical presentations necessitate a wide range of treatments, thus underscoring the need to tailor the treatment to the patient and the severity of disease. Recent studies confirm the efficacy of smaller, more conservative operations for appropriate indications. When flap closures are performed, every attempt should be directed to placing sutures off (lateral) to the midline gluteal cleft. Met...

  19. Ollier disease

    Directory of Open Access Journals (Sweden)

    Jüppner Harald


    Full Text Available Abstract Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology. The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery. Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma. The condition in which multiple enchondromatosis is associated with soft tissue hemangiomas is known as Maffucci syndrome. Until now both Ollier disease and Maffucci syndrome have only occurred in isolated patients and not familial. It remains uncertain whether the disorder is caused by a single gene defect or by combinations of (germ-line and/or somatic mutations. The diagnosis is based on clinical and conventional radiological evaluations. Histological analysis has a limited role and is mainly used if malignancy is suspected. There is no medical treatment for enchondromatosis. Surgery is indicated in case of complications (pathological fractures, growth defect, malignant transformation. The prognosis for Ollier disease is difficult to assess. As is generally the case, forms with an early onset appear more severe. Enchondromas in Ollier disease present a risk of malignant transformation of enchondromas into chondrosarcomas.

  20. [Chagas disease]. (United States)

    Develoux, M; Lescure, F-X; Le Loup, G; Pialoux, G


    Chagas disease (human American trypanosomiasis) is a zoonose caused by the protozoan Trypanosoma cruzi. Vectors are Triatoma spp. insects. T. cruzi can also be transmitted by blood transfusion, organ transplantation, and transplacentally. Infection is generally acquired during infancy. The acute infection is rarely symptomatic and is followed by a chronic phase. Chronic infected people are asymptomatic (indeterminate stage) and may remain at this stage for the rest of their lives. About a third of infected people will develop a chronic Chagas disease which affects the heart and the digestive tract. Morbidity and mortality of chronic Chagas cardiomyopathy (CCC) are high. Specific treatment of asymptomatic infected individual could reduce the risk of progression to CCC. With control initiatives case incidence declined in most endemic countries. American trypanosomiasis has become an emerging imported disease in North America and Europe because of the migration of population originating from endemic zones. They are only two available drugs for specific treatment of Chagas disease: benznidazole and nifurtimox. Both have frequent side effects and variable efficacy according the phase of the disease. There is an urgent need for new treatments and better serological tests. Policies must be developed to avoid the risk of transmission trough blood transfusion and transplantation in developed countries.

  1. HIV and Rheumatic Disease (United States)

    ... A Patient / Caregiver Diseases & Conditions HIV & Rheumatic Diseases HIV and Rheumatic Disease Fast Facts Rheumatic diseases related ... knows he or she has HIV. What are HIV-associated rheumatic diseases? Some diseases of the joints ...

  2. Disease Outbreak News (United States)

    ... Diseases Biorisk reduction Disease outbreak news Disease Outbreak News (DONs) Latest DONs Rift Valley fever – Gambia ... Disease outbreaks by country RSS feeds Disease outbreak news Related links Ebola virus disease - website Avian influenza ...

  3. Celiac disease

    DEFF Research Database (Denmark)

    Hvas, Christian Lodberg; Jensen, Michael Dam; Reimer, Maria Christina


    This national clinical guideline approved by the Danish Society for Gastroenterology and Hepatology describes the diagnosis and treatment of celiac disease (CD) in adults. CD is a chronic immunemediated enteropathy of the small intestine triggered by the ingestion of gluten-containing proteins......, which are found in wheat, rye, and barley. The disease prevalence is 0.5-1.0%, but CD remains under-diagnosed. The diagnosis relies on the demonstration of lymphocyte infiltration, crypt hyperplasia, and villous atrophy in duodenal biopsies. Serology, malabsorption, biochemical markers...... the small intestinal mucosa and absorption. Adherence to a GFD usually requires dietary advice from a clinical dietician. The monitoring of antibody levels and malabsorption markers is crucial during follow-up and allows for early treatment of disease complications. Important complications include...

  4. [Dupuytren disease]. (United States)

    Wagner, Pablo; Román, Javier A; Vergara, Jorge


    Dupuytren disease (DD) is a connective tissue disorder that consists in fibromatosis of the palmar and digital fascia (in form of nodules or flanges) that leads to the development of flexion contractures of the palm and fingers. The little and ring finger are particularly affected. The disease can limit hand function, reducing the quality of life. The disease can have a traumatic origin and is also associated with conditions such as diabetes mellitus, alcoholism, dyslipidemia, epilepsy and AIDS, among others. However, none of these conditions can fully explain the genesis of DD. A hereditary component is described in 40% of patients and is attributed to an autosomal dominant gene of variable penetrance, probably related to collagen synthesis. However there are also spontaneous and recessive inheritance cases. The diagnosis is clinical and based on physical examination. Treatment ranges from observation or use of injectable collagenase to the surgical option in cases with significant functional limitations.

  5. Alzheimer's disease. (United States)

    Moody, G H; Drummond, J R; Newton, J P


    Alzheimer's disease (AD) is a debilitating and progressive disease that can affect dental practice in a number of ways. Not only will increasing numbers of AD patients be treated by dentists in the future but the dentist and members of his family may also be unfortunate enough to become affected. In the United Kingdom, nearly 10% of the population over 65 years of age, and more than 20% of those over 80 years develop progressive deterioration of memory, resulting in a breakdown of intellectual capacity and personality. More than half of those are suffering from AD. The purpose of this review is to describe the aetiology and behavioural aspects of this distressing disease and to highlight some problems that the dentist may encounter when treating those patients.

  6. Parkinson's disease

    DEFF Research Database (Denmark)

    Astradsson, Arnar; Aziz, Tipu Z


    INTRODUCTION: The mean age of onset of Parkinson's disease is about 65 years, with a median time of 9 years between diagnosis and death. METHODS AND OUTCOMES: We conducted a systematic review and aimed to answer the following clinical question: What are the effects of fetal cell or stem cell......-derived therapy in people with Parkinson's disease? We searched: Medline, Embase, The Cochrane Library and other important databases up to September 2014 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from...

  7. Dupuytren's disease. (United States)

    Worrell, Michael


    Dupuytren's disease is a benign contractile disorder of the hand. The condition commonly affects older men of Celtic descent. Although fibroproliferation and collagen alteration play a role in its etiology, defining a cause remains elusive. Nonoperative intervention for advanced disease has shown only short-term benefit. Therefore, open fasciectomy has become the mainstay of treatment. Associated morbidity and recurrence have prompted investigation into less invasive techniques, including needle aponeurotomy and enzymatic fasciotomy. Data from phase III studies using injectable collagenase are changing treatment algorithms. Postoperative rehabilitation includes nighttime splinting and immediate active range of motion exercises to facilitate return to function. Copyright 2012, SLACK Incorporated.

  8. Dent's disease

    Directory of Open Access Journals (Sweden)

    Thakker Rajesh V


    Full Text Available Abstract Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be present in early childhood, whereas female carriers may show a milder phenotype. Prevalence is unknown; the disorder has been reported in around 250 families to date. Complications such as rickets or osteomalacia may occur. The disease is caused by mutations in either the CLCN5 (Dent disease 1 or OCRL1 (Dent disease 2 genes that are located on chromosome Xp11.22 and Xq25, respectively. CLCN5 encodes the electrogenic Cl-/H+ exchanger ClC-5, which belongs to the CLC family of Cl- channels/transporters. OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2 5-phosphatase and mutations are also associated with Lowe Syndrome. The phenotype of Dent's disease is explained by the predominant expression of ClC-5 in the proximal tubule segments of the kidney. No genotype-phenotype correlation has been described thus far, and there is considerable intra-familial variability in disease severity. A few patients with Dent's disease do not harbour mutations in CLCN5 and OCRL1, pointing to the involvement of other genes. Diagnosis is based on the presence of all three of the following criteria: low-molecular-weight proteinuria, hypercalciuria and at least one of the following: nephrocalcinosis, kidney stones, hematuria, hypophosphatemia or renal insufficiency. Molecular genetic testing confirms the diagnosis. The differential diagnosis includes other causes of generalized dysfunction of the proximal tubules (renal Fanconi syndrome, hereditary, acquired, or caused by exogenous substances. Antenatal diagnosis and pre-implantation genetic testing is not advised. The care of patients with Dent's disease is supportive, focusing on the treatment of hypercalciuria and

  9. Pilonidal disease. (United States)

    Khanna, Amit; Rombeau, John L


    Pilonidal disease presents many therapeutic challenges to surgeons throughout the world. Its varied clinical presentations necessitate a wide range of treatments, thus underscoring the need to tailor the treatment to the patient and the severity of disease. Recent studies confirm the efficacy of smaller, more conservative operations for appropriate indications. When flap closures are performed, every attempt should be directed to placing sutures off (lateral) to the midline gluteal cleft. Meticulous attention to the details of immediate and long-term postoperative care is paramount.

  10. Ostrich diseases. (United States)

    Verwoerd, D J


    Scientific knowledge of ostrich diseases is incomplete and very fragmented, with specific details on technical aspects of diagnostic and/or screening tests completely absent in most cases. Salmonella Typhimurium is common in multispecies collections and causes mortality in chicks younger than three months on commercial farms, but is rarely found in chicks older than six months, or slaughter birds of twelve to fourteen months in southern Africa. Campylobacter jejuni and Chlamydia psittaci are occasionally reported, mainly in young ostriches, but both remain a diagnostic challenge. Crimean-Congo haemorrhagic fever is transmitted to domestic animals including ostriches, principally by ticks of the genus Hyalomma. In the ostrich, the disease causes no clinical symptoms during a viraemia of approximately four days. Spongiform encephalopathy has not been reliably reported in ostriches, while anthrax has occurred rarely in modern times but was reportedly an important cause of death approximately 100 years ago in South Africa. Salmonella Gallinarum and S. Pullorum are unknown in ostriches. Pasteurella multocida occurs but is easily contained with antibiotics. Mycoplasma spp. are regularly found in an upper respiratory disease syndrome complicated by opportunistic bacterial pathogens. Ostriches of all ages are susceptible to challenge by velogenic Newcastle disease virus (NDV), but standard inactivated La Sota poultry vaccines can stimulate protective immunity lasting over six months. The viraemic period in vaccinated slaughter ostriches is between nine and eleven days and there are no indications of a carrier state or presence of the virus in the meat or any other tissues after this period, with peak immunoglobulin G response reached on day fourteen post infection. Haemagglutination inhibition tests are significantly less sensitive and less specific than enzyme-linked immunosorbent assays. Cloacal and choanal swabs used for direct virological screening in clinically

  11. Hansen's disease: a vanishing disease?

    Directory of Open Access Journals (Sweden)

    Sinésio Talhari


    Full Text Available The introduction, implementation, successes and failures of multidrug therapy (MDT in all Hansen's disease endemic countries are discussed in this paper. The high efficacy of leprosy treatment with MDT and the global reduction of prevalence led the World Health Organization, in 1991, to establish the goal of elimination of Hansen's disease (less than 1 patient per 10,000 inhabitants to be accomplished by the year 2000. Brazil, Nepal and East Timor are among the few countries that didn't reach the elimination goal by the year 2000 or even 2005. The implications of these aspects are highlighted in this paper. Current data from endemic and previously endemic countries that carry a regular leprosy control programme show that the important fall in prevalence was not followed by the reduction of the incidence. This means that transmission of Mycobacterium leprae is still an issue. It is reasonable to conclude that we are still far from the most important goal of Hansen's disease control: the interruption of transmission and reduction of incidence. It is necessary to emphasize to health managers the need of keeping Hansen's disease control activities to better develop control programmes in the future. The recent international proposal to interrupt the transmission of leprosy by the year 2020 seems to unrealistic and it is discussed in this paper. The possibility of epidemiological impact related to the human immunodeficiency virus/Hansen's disease coinfection is also considered.

  12. Huntington's disease: a perplexing neurological disease ...

    African Journals Online (AJOL)

    Huntington's disease has served as a model for the study of other more common neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. Symptomatic treatment of Huntington's disease involves use of Dopamine antagonists, presynaptic dopamine depleters, Antidepressants, Tranquillizers ...

  13. Bone Diseases (United States)

    ... need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. Different kinds of bone problems include Low bone density and osteoporosis, which make your bones weak and ...

  14. Wilson Disease (United States)

    ... people taking zinc usually do not experience side effects, some people may experience stomach upset. A health care provider ... 738–4929 Email: Internet: ... diseases to people with digestive disorders and to their families, health ...

  15. Behcet's Disease (United States)

    ... síndrome de Behçet? (Esenciales: hojas informativas de fácil lectura) View/Download/Order Publications Behçet’s Disease, Easy-to- ... Media Moderation Policy FOIA Privacy Statement Accessibility Disclaimer Digital Strategy Open Source Data Public Data Listing NIH... ...

  16. Fifth Disease (United States)

    ... recently infected. The blood test may be particularly helpful for pregnant women who may have been exposed to parvovirus B19 and are suspected to have fifth disease. Top of Page Prevention & Treatment Prevention There is no vaccine or medicine that can prevent parvovirus B19 infection. ...

  17. [Trophoblastic diseases

    NARCIS (Netherlands)

    Kate-Booij, M.J. ten; Lok, C.A.; Verheijen, R.H.; Massuger, L.F.A.G.; Trommel, N.E. van


    Hydatidiform mole is the most frequently-occurring gestational trophoblastic disease (GTD). Patients with GTD have elevated human chorionic gonadotrophin (HCG) produced by the trophoblast. After evacuation of the mole, weekly serum HCG determinations can be used to assess whether the trophoblast is

  18. Prionic diseases

    Directory of Open Access Journals (Sweden)

    Abelardo Q-C Araujo


    Full Text Available Prion diseases are neurodegenerative illnesses due to the accumulation of small infectious pathogens containing protein but apparently lacking nucleic acid, which have long incubation periods and progress inexorably once clinical symptoms appear. Prions are uniquely resistant to a number of normal decontaminating procedures. The prionopathies [Kuru, Creutzfeldt-Jakob disease (CJD and its variants, Gerstmann-Sträussler-Scheinker (GSS syndrome and fatal familial insomnia (FFI] result from accumulation of abnormal isoforms of the prion protein in the brains of normal animals on both neuronal and non-neuronal cells. The accumulation of this protein or fragments of it in neurons leads to apoptosis and cell death. There is a strong link between mutations in the gene encoding the normal prion protein in humans (PRNP - located on the short arm of chromosome 20 – and forms of prion disease with a familial predisposition (familial CJD, GSS, FFI. Clinically a prionopathy should be suspected in any case of a fast progressing dementia with ataxia, myoclonus, or in individuals with pathological insomnia associated with dysautonomia. Magnetic resonance imaging, identification of the 14-3-3 protein in the cerebrospinal fluid, tonsil biopsy and genetic studies have been used for in vivo diagnosis circumventing the need of brain biopsy. Histopathology, however, remains the only conclusive method to reach a confident diagnosis. Unfortunately, despite numerous treatment efforts, prionopathies remain short-lasting and fatal diseases.

  19. Huntington's disease

    DEFF Research Database (Denmark)

    Hjermind, Lena Elisabeth; Law, Ian; Jønch, Aia


    In this open-label pilot study, the authors evaluated the effect of memantine on the distribution of brain glucose metabolism in four Huntington's disease (HD) patients as determined by serial 18-fluoro-deoxyglucose [F(18)]FDG-PET scans over a period of 3-4 months (90-129 days, with one patient...

  20. Parasitic Diseases (United States)

    ... to live. You can get them from contaminated food or water, a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not. Parasites range in size from tiny, one-celled organisms called protozoa to worms that can be seen with the naked eye. ...

  1. Blount Disease (United States)

    ... a while. You'll also probably need physical therapy . The good news is that most teens make a complete recovery. The Outlook Most teens who have surgery to correct Blount disease can return to all their normal activities, even competitive sports. One lesson many people take away from dealing ...

  2. Graves' Disease (United States)

    ... to pump enough blood to the body (congestive heart failure). Thyroid storm. A rare, but life-threatening complication of Graves' disease is thyroid storm, also known as accelerated hyperthyroidism or thyrotoxic crisis. It's more likely when severe hyperthyroidism is untreated ...

  3. Cushing disease (United States)

    ... Symptoms Symptoms of Cushing disease include: Upper body obesity (above the waist) and thin arms and legs ... blood glucose and A1C to test for diabetes Lipid and cholesterol ... Medicine, Division of Metabolism, Endocrinology & Nutrition, University of Washington School of Medicine, ...

  4. Crohn's Disease (United States)

    ... nutrition are sometimes given to Crohn’s disease patients to give the inflamed intestine a respite from solid food. top of page This page was reviewed on May 24, 2016 Send us your feedback Did you find the information you were looking ...

  5. Rh Disease (United States)

    ... immunoglobulin called Rho(D) immune globulin (brand name RhoGAM®). RhoGAM can prevent your body from producing Rh antibodies ... and future pregnancies won’t get Rh disease. RhoGAM doesn’t work if your body has already ...

  6. Cardiovascular disease

    African Journals Online (AJOL)


    +2348153319600. ABSTRACT: Background: Cardiovascular disease is a global epidemic; the prevalence is currently stable in the developed world but .... that culminate in malnutrition are believed to predominate. However, urbanization of .... risk factors promotes migration of inflammatory cells from the circulation and the ...

  7. Periodontal diseases. (United States)

    Kinane, Denis F; Stathopoulou, Panagiota G; Papapanou, Panos N


    Periodontal diseases comprise a wide range of inflammatory conditions that affect the supporting structures of the teeth (the gingiva, bone and periodontal ligament), which could lead to tooth loss and contribute to systemic inflammation. Chronic periodontitis predominantly affects adults, but aggressive periodontitis may occasionally occur in children. Periodontal disease initiation and propagation is through a dysbiosis of the commensal oral microbiota (dental plaque), which then interacts with the immune defences of the host, leading to inflammation and disease. This pathophysiological situation persists through bouts of activity and quiescence, until the affected tooth is extracted or the microbial biofilm is therapeutically removed and the inflammation subsides. The severity of the periodontal disease depends on environmental and host risk factors, both modifiable (for example, smoking) and non-modifiable (for example, genetic susceptibility). Prevention is achieved with daily self-performed oral hygiene and professional removal of the microbial biofilm on a quarterly or bi-annual basis. New treatment modalities that are actively explored include antimicrobial therapy, host modulation therapy, laser therapy and tissue engineering for tissue repair and regeneration.

  8. Fabry disease

    Directory of Open Access Journals (Sweden)

    Germain Dominique P


    Full Text Available Abstract Fabry disease (FD is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain, cutaneous (angiokeratoma, renal (proteinuria, kidney failure, cardiovascular (cardiomyopathy, arrhythmia, cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes signs of the disease while heterozygous females have symptoms ranging from very mild to severe. Deficient activity of lysosomal α-galactosidase A results in progressive accumulation of globotriaosylceramide within lysosomes, believed to trigger a cascade of cellular events. Demonstration of marked α-galactosidase A deficiency is the definitive method for the diagnosis of hemizygous males. Enzyme analysis may occasionnally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation so that molecular testing (genotyping of females is mandatory. In childhood, other possible causes of pain such as rheumatoid arthritis and 'growing pains' must be ruled out. In adulthood, multiple sclerosis is sometimes considered. Prenatal diagnosis, available by determination of enzyme activity or DNA testing in chorionic villi or cultured amniotic cells is, for ethical reasons, only considered in male fetuses. Pre-implantation diagnosis is possible. The existence of atypical variants and the availability of a specific therapy singularly complicate genetic counseling. A disease-specific therapeutic option - enzyme replacement therapy using recombinant human α-galactosidase A - has been recently introduced and its long term outcome is currently still being investigated. Conventional management consists of pain relief with

  9. Morgellons disease? (United States)

    Accordino, Robert E; Engler, Danielle; Ginsburg, Iona H; Koo, John


    Morgellons disease, a pattern of dermatologic symptoms very similar, if not identical, to those of delusions of parasitosis, was first described many centuries ago, but has recently been given much attention on the internet and in the mass media. The present authors present a history of Morgellons disease, in addition to which they discuss the potential benefit of using this diagnostic term as a means of building trust and rapport with patients to maximize treatment benefit. The present authors also suggest "meeting the patient halfway" and creating a therapeutic alliance when providing dermatologic treatment by taking their cutaneous symptoms seriously enough to provide both topical ointments as well as antipsychotic medications, which can be therapeutic in these patients.

  10. [Crohn's disease]. (United States)

    Márquez, V R; Sanz, M; Calderaro-di Ruggiero, F; Daza Ramírez, A; Casale Ochoa, E; Márquez Atars, I


    A 48 years old male patient was admitted in the Risquez Hospital of Caracas, Venezuela presenting intestinal obstruction. An exploratory laparotomy was performed and two stenotic lesions in the small intestine were found. One of them in the proximal jejunum and the other in distal ileum. Both were resected and terminal jejunum-jejunum anastomosis and terminal jejunum-ileum anastomosis were performed. Pathological diagnosis was Crohn's Disease. Post operative evolution was satisfactory and four years after the patient is well.

  11. What is the best diagnostic and therapeutic management strategy for an Addison patient during pregnancy? (United States)

    Lebbe, Marie; Arlt, Wiebke


    A new diagnosis of primary adrenal insufficiency (PAI) during pregnancy is extremely rare and difficult to recognize as signs and symptoms such as nausea, fatigue and hypotension may resemble features of normal pregnancy. However, if the diagnosis is overlooked and steroid replacement delayed, subsequent adrenal crisis triggered by hyperemesis gravidarum, fever or delivery can cause severe maternal and foetal morbidity and even mortality. In case of clinical suspicion of PAI, we recommend to measure paired samples of cortisol and ACTH and, if clinically feasible, a short synacthen test. We propose trimester-specific pass cut-offs for the short synacthen test that take into account the rise of total and also free cortisol during pregnancy. Empirical hydrocortisone treatment should never be delayed if the clinical suspicion is high. All pregnant women with PAI should be monitored by a team of endocrine and obstetric specialists. The third trimester is physiologically associated with a rise not only in total but also free cortisol and thus requires regular adjustment of the glucocorticoid dose. Mineralocorticoid requirements may change during pregnancy due to the anti-mineralocorticoid properties of progesterone. As plasma renin physiologically increases in pregnancy, monitoring is limited to clinical assessment including blood pressure and serum electrolytes. It is crucial that a pregnant woman with PAI and her partner are well educated regarding the adjustment of glucocorticoid dose in intercurrent illness and that both are trained in hydrocortisone emergency injection techniques. The obstetric staff should be provided with clear and written guidance for hydrocortisone cover during labour and delivery. With the appropriate replacement therapy, PAI patients can expect to have an uneventful pregnancy and deliver a healthy infant. © 2012 Blackwell Publishing Ltd.

  12. Flood of June 1972: Canisteo River, Tuscarora Creek, and Tioga River near Addison, New York (United States)

    Wagner, L.A.; Hamecher, P.H.


    In June 1972, tropical storm Agnes caused sever flooding in Pennsylvania and southern New York. The flood, on many major streams were the highest known since the river valleys were settled. Maximum discharges were as much as twice the discharge of a 50-year flood. In southern New York, large areas in Corning, Elmire, Wellsville, Salamanca, and in many smaller communities were inundated to depths of several feet. Levels of all of the Finger Lakes were higher than any previously recorded, and extensive flooding of lakeside properties resulted. The extent of flooding shown on the map was delineated by the U.S. Geological Survey from earlier photography and limited field survey. The investigation was conducted in cooperation with the State of New York and the U.S. Army Corps of Engineers.

  13. Dollar Summary of Prime Contract Awards by State, Place, and Contractor. Part 1 (Addison-Leesburg) (United States)


    uA -0 < -4d LI C" aI. 3. I ’ 0~~~~~~~~~ I 0. I 4 N -N- 04 .4 P4) ’ -40’ - 0 W0 I 0 I 14 af 4 *0 r C oyl CIaDI 0 a 1.a.)i Cm in WI 4w Col P. a-m .* 0’ C

  14. Children's Play: An Introduction for Care Providers. Addison-Wesley Early Childhood Education. (United States)

    Mulligan, Vicki

    Intended as an aid for students on their way to becoming professional teachers and caregivers, This book encourages the student to contemplate his or her own ideas regarding play, including the concept of play and specific memories of play in their own past, and then use these thoughts to reshape the student's ideas about play. This book deals…

  15. Heavy Chain Diseases (United States)

    ... heavy chain produced: Alpha Gamma Mu Alpha Heavy Chain Disease Alpha heavy chain disease (IgA heavy chain ... disease or lead to a remission. Gamma Heavy Chain Disease Gamma heavy chain disease (IgG heavy chain ...

  16. Diabetic Eye Disease (United States)

    ... Disease, & Other Dental Problems Diabetes & Sexual & Urologic Problems Diabetic Eye Disease What is diabetic eye disease? Diabetic eye disease is a group ... eye diseases that can threaten your sight are Diabetic retinopathy The retina is the inner lining at ...

  17. Chronic Beryllium Disease (United States)

    ... Science Education & Training Home Conditions Chronic Beryllium Disease Chronic Beryllium Disease Make an Appointment Find a Doctor Ask a ... MD, MSPH, FCCP (February 01, 2016) What is chronic beryllium disease (CBD)? Chronic beryllium disease (CBD) is a disease ...

  18. What Is Vascular Disease? (United States)

    ... Policy What Is Vascular Disease? What Is Vascular Disease? Vascular disease is any abnormal condition of the blood ... Privacy Policy × Your ticket for the: What Is Vascular Disease? Title What Is Vascular Disease? USD Close Print

  19. Cardiovascular Disease

    Directory of Open Access Journals (Sweden)

    Cheung Angela


    Full Text Available Abstract Health Issue Cardiovascular disease (CVD is the leading cause of death in Canadian women and men. In general, women present with a wider range of symptoms, are more likely to delay seeking medial care and are less likely to be investigated and treated with evidence-based medications, angioplasty or coronary artery bypass graft than men. Key Findings In 1998, 78,964 Canadians died from CVD, almost half (39,197 were women. Acute myocardial infarction, which increases significantly after menopause, was the leading cause of death among women. Cardiovascular disease accounted for 21% of all hospital admissions for Canadian women over age 50 in 1999. Admissions to hospital for ischemic heart disease were more frequent for men, but the mean length of hospital stay was longer for women. Mean blood pressure increases with age in both men and women. After age 65, however, high blood pressure is more common among Canadian women. More than one-third of postmenopausal Canadian women have hypertension. Diabetes increases the mortality and morbidity associated with CVD in women more than it does in men. Depression also contributes to the incidence and recovery from CVD, particularly for women who experience twice the rate of depression as men. Data Gaps and Recommendations CVD needs to be recognized as a woman's health issue given Canadian mortality projections (particularly heart failure. Health professionals should be trained to screen, track, and address CVD risk factors among women, including hypertension, elevated lipid levels, smoking, physical inactivity, depression, diabetes and low socio-economic status.

  20. [MENETRIER DISEASE]. (United States)

    Maev, I V; Andreev, D N; Samsonov, A A


    Menetrier disease (MD) is a very rare stomach pathology of unknown etiology characterized by manifest hypertrophy of gastric mucosa. The main causes of MD are believed to be Helicobacter pylori and cytomegalovirus infections. The most frequent symptom is epigastric pain. Also common are peripheral oedema due to hypoalbuminemia and increased permeability of gastric mucosa. The main diagnostic signs of MD include diffusive enhancement of mucosal folds, foveolar hyperplasia and glandular atrophy with a decrease in the number of main and parietal cells, hypoalbuminemia and peripheral oedema. MD being a very rare condition, the optimal methodfor its treatment is unknown.

  1. Cardiovascular disease. (United States)

    Gavagan, Thomas


    The primary care physician is in a position to advise patients on the efficacy of alternative and complementary therapies as they relate to cardiovascular diseases. Anti-oxidant vitamin supplementation has not been shown to be efficacious in decreasing cardiovascular events. N-3 fatty acids appear to be beneficial in secondary prevention of cardiovascular events but their use in primary prevention is not clear. Adoption of vegetable-based diets, including whole grains, can be recommended to decrease cardiovascular events, lower cholesterol and help lower blood pressure. For patients with hypercholesterolemia, cholestin, a red-yeast rice supplement, has been shown to be effective. Garlic supplements may have some mild cholesterol-lowering effect, but this effect is not significant enough to recommend clinically. Herbal therapies with hawthorn and ubiquinone (Q10) are of possible benefit in congestive heart failure. An integrated program of rigorous diet, exercise and stress reduction in motivated patients with cardiovascular disease may have value as an alternative to cardiovascular medications and surgical interventions.

  2. Association between periodontal diseases and systemic diseases


    Patrícia Weidlich; Renata Cimões; Claudio Mendes Pannuti; Rui Vicente Oppermann


    Current evidence suggests that periodontal disease may be associated with systemic diseases. This paper reviewed the published data about the relationship between periodontal disease and cardiovascular diseases, adverse pregnancy outcomes, diabetes and respiratory diseases, focusing on studies conducted in the Brazilian population. Only a few studies were found in the literature focusing on Brazilians (3 concerning cardiovascular disease, 7 about pregnancy outcomes, 9 about diabetes and one r...

  3. Alzheimer Disease (United States)

    Apostolova, Liana G.


    ABSTRACT Purpose of Review: This article discusses the recent advances in the diagnosis and treatment of Alzheimer disease (AD). Recent Findings: In recent years, significant advances have been made in the fields of genetics, neuroimaging, clinical diagnosis, and staging of AD. One of the most important recent advances in AD is our ability to visualize amyloid pathology in the living human brain. The newly revised criteria for diagnosis of AD dementia embrace the use for biomarkers as supportive evidence for the underlying pathology. Guidelines for the responsible use of amyloid positron emission tomography (PET) have been developed, and the clinical and economic implications of amyloid PET imaging are actively being explored. Summary: Our improved understanding of the clinical onset, progression, neuroimaging, pathologic features, genetics, and other risk factors for AD impacts the approaches to clinical diagnosis and future therapeutic interventions. PMID:27042902

  4. Hirayama disease

    Directory of Open Access Journals (Sweden)

    Atul T Tayade


    Full Text Available A 17-year-old male, who gave up his favorite sport cricket and started playing football, presented with one-year history of slowly progressive atrophic weakness of forearms and hands. Neurological examination showed weak and wasted arms, forearms and hand but no evidence of pyramidal tract, spinothalmic tract and posterior column lesions. Plain cervical spine radiographs showed no abnormal findings. Cervical magnetic resonance imaging (MRI showed asymmetric cord atrophy; images obtained with neck flexed showed the anterior shifting of the posterior wall of the lower cervical dural sac resulting in cord compression. These findings suggest Hirayama disease, a kind of cervical myelopathy related to the flexion movements of the neck.

  5. Vibroacoustic disease. (United States)

    Branco, N A A Castelo; Alves-Pereira, M


    Vibroacoustic disease (VAD) is a whole-body, systemic pathology, characterized by the abnormal proliferation of extra-cellular matrices, and caused by excessive exposure to low frequency noise (LFN). VAD has been observed in LFN-exposed professionals, such as, aircraft technicians, commercial and military pilots and cabin crewmembers, ship machinists, restaurant workers, and disk-jockeys. VAD has also been observed in several populations exposed to environmental LFN. This report summarizes what is known to date on VAD, LFN-induced pathology, and related issues. In 1987, the first autopsy of a deceased VAD patient was performed. The extent of LFN induced damage was overwhelming, and the information obtained is, still today, guiding many of the associated and ongoing research projects. In 1992, LFN-exposed animal models began to be studied in order to gain a deeper knowledge of how tissues respond to this acoustic stressor. In both human and animal models, LFN exposure causes thickening of cardiovascular structures. Indeed, pericardial thickening with no inflammatory process, and in the absence of diastolic dysfunction, is the hallmark of VAD. Depressions, increased irritability and aggressiveness, a tendency for isolation, and decreased cognitive skills are all part of the clinical picture of VAD. LFN is a demonstrated genotoxic agent, inducing an increased frequency of sister chromatid exchanges in both human and animal models. The occurrence of malignancies among LFN-exposed humans, and of metaplastic and displastic appearances in LFN-exposed animals, clearly corroborates the mutagenic outcome of LFN exposure. The inadequacy of currently established legislation regarding noise assessments is a powerful hindrance to scientific advancement. VAD can never be fully recognized as an occupational and environmental pathology unless the agent of disease--LFN--is acknowledged and properly evaluated. The worldwide suffering of LFN-exposed individuals is staggering and it is

  6. Autoimmune Polyglandular Syndrome Type 2: An Unusual Presentation

    Directory of Open Access Journals (Sweden)

    Hamdollah Karamifar


    Full Text Available "nAutoimmune polyglandular syndrome (APS type 2 is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type 1 diabetes mellitus. APS type 2 occurs most often in middle aged females and is rare in children. Here an 11 year old boy is reported with Addison's disease who developed symptom's of diabetes mellitus, goiter, malabsorption, macrocytic anemia and keratitis. APS type 2 occurs most often in middle aged females and is quite rare in children but one should think to autoimmune poly glandular syndrome type II in patient at any age especially in patients with Addison's disease.

  7. Newcastle Disease Virus (PDQ) (United States)

    ... to Ask about Your Treatment Research Newcastle Disease Virus (PDQ®)–Patient Version Overview Go to Health Professional ... Question 8 ). Questions and Answers About Newcastle Disease Virus What is Newcastle disease virus? Newcastle disease virus ( ...

  8. Kidney Disease Basics (United States)

    ... Heart Disease Mineral & Bone Disorder What Is Chronic Kidney Disease? Chronic kidney disease (CKD) means your kidneys ... work, be active, and enjoy life. Will my kidneys get better? Kidney disease is often “progressive”, which ...

  9. Living with Kawasaki Disease (United States)

    ... Research Home / Kawasaki Disease Kawasaki Disease What Is Kawasaki (KAH-wah-SAH-ke) disease is a rare ... condition involves inflammation of the blood vessels. In Kawasaki disease, the walls of the blood vessels throughout ...

  10. Progression of Liver Disease (United States)

    ... The Progression of Liver Disease Diagnosing Liver Disease – Liver Biopsy and Liver Function Tests Clinical Trials Liver Transplant ... The Progression of Liver Disease Diagnosing Liver Disease: Liver Biopsy and Liver Function Tests Clinical Trials Liver Transplant ...

  11. Poorly Responsive Celiac Disease (United States)

    ... Celiac Disease › Poorly Responsive Celiac Disease Poorly Responsive Celiac Disease It is estimated that up to 30% of ... continuing to ingest gluten. Causes of Poorly Responsive Celiac Disease Continuing Gluten Ingestion The most common reason for ...

  12. Testing for Kidney Disease (United States)

    ... hypertension artérielle Heart Disease Mineral & Bone Disorder Chronic Kidney Disease Tests & Diagnosis How can I tell if I have kidney disease? Early kidney disease usually doesn’t have any ...

  13. Fatty Liver Disease (United States)

    ... two main types: Nonalcoholic fatty liver disease (NAFLD) Alcoholic fatty liver disease, also called alcoholic steatohepatitis What is nonalcoholic ... lead to cirrhosis or liver cancer. What is alcoholic fatty liver disease? Alcoholic fatty liver disease is due to ...

  14. Parkinson's Disease Dementia (United States)

    ... Find your local chapter Join our online community Parkinson's Disease Dementia Parkinson's disease dementia is an impairment ... disease. About Symptoms Diagnosis Causes & risks Treatments About Parkinson's disease dementia The brain changes caused by Parkinson's ...

  15. Thyroid Disease and Teens (United States)

    ... Situations Talking to Your Parents - or Other Adults Thyroid Disease KidsHealth > For Teens > Thyroid Disease Print A ... other parts of your body. continue What Is Thyroid Disease? Thyroid disease occurs when the thyroid gland ...

  16. Thyroid Disease (for Parents) (United States)

    ... Late for the Flu Vaccine? Eating Disorders Arrhythmias Thyroid Disease KidsHealth > For Parents > Thyroid Disease Print A ... many other parts of the body. What Is Thyroid Disease? Thyroid disease is when the thyroid gland ...

  17. About Chronic Kidney Disease (United States)

    ... Advocacy Donate A to Z Health Guide About Chronic Kidney Disease Tweet Share Print Email Chronic kidney disease (CKD) ... Learn about Glomerular Filtration Rate (GFR) What is chronic kidney disease (CKD)? Chronic kidney disease includes conditions that damage ...

  18. Men and Heart Disease (United States)

    ... Pressure Salt Cholesterol Million Hearts® WISEWOMAN Men and Heart Disease Fact Sheet Recommend on Facebook Tweet Share Compartir Source: Interactive Atlas of Heart Disease and Stroke Heart Disease Facts in Men Heart disease is the leading ...

  19. [Castleman disease]. (United States)

    Belletti, Gerardo A; Savio, Verónica; Minoldo, Daniel; Caminos, Susana; Yorio, Marcelo A


    A 66 years female, who was since last year under astenia, arthralgias, pimply lesions in spread plates and tests showing eritrosedimentation over 100 mm, anemi, leucocitosis with neutrofilia, policlonal hypergammaglobulinemia, slight proteinuria and IgE on 900. This patient was sporadically treated with corticoids. When made the medical consult had lost 34lb., was under anorexy, as well as dyspepsia. Hemoglobyn 6.9 gr/dl, leucocytes 20000/mm3, neutrofils at 90%, proteinogram the same as former, with hypoalbuminemia. She was taking prednisona, 16 mg/day. When examined showed depress of conscience, astenia, and dermic lesions already quoted. 4 cm nonpainful right axillary adenopaty adhered to deep planes. Medulogram with increased iron, hyperegenerative. Ganglionar biopsia: linfoid hyperplasic process linked to inmune response. Toracoabdominal tomography with adenomegalia in torax and retroperitoneo. Skin biopsia: neutrofilic vasculitis. The patient suspends the 16 mg of prednisona and fever as well as generalized adenopatias come up. After laying aside other ethiologies, and understanding as Castleman Multicentric disease, it is started to supply prednisona 1 mg/kg of weight with a clinical and biochemical fast and outstanding response. After 7 months it was progressively suspended the esteroids and 60 days later, the process fall back; for that, corticoids are restarted, with a good evolution. The illness of Castleman although it is not very frequent, it should be considered as differential diagnosis in those clinical cases that are accompanied with important general commitment, linphadenopaties and respons to steroid therapy.

  20. [Fukuhara disease]. (United States)

    Fukuhara, Nobuyoshi


    MERRF is an acronym of myoclonus epilepsy associated with ragged-red fibers and was first reported as a new nosological entity belonging to mitochondrial encephalomyopathies in San Remo symposium on "Mitochondrial Pathology" in 1982. MERRF was named Fukuhara disease by Rowland (1983). The first reported patient had been diagnosed as having Ramsay Hunt syndrome associated with Friedreich's ataxia. However, nowadays, the previously reported cases as having Ramsay Hunt syndrome associated with Friedreich's ataxia are regarded as having been suffered from MERRF. The history in establishing the nosological entity of MERRF was described. Patients with MERRF develop myoclonus, epileptic seizures, cerebellar ataxia, dementia, sensorineural hearing disturbance, optic atrophy, muscular wasting, and foot deformities at the advanced stage. Pathological findings show degeneration of the dentate nuclei, globus pallidus, and red nuclei, substantia nigra, inferior olivary nuclei, cerebellar cortex, and spinal cord. The posterior columns, the spinocerebellar tracts, and Clark's columns are degenerating in the spinal cord. The pyramidal tracts never show a severe degeneration as in Friedreich's ataxia. The skeletal muscles show mitochondrial abnormalities histologically and electron microscopically. Clinical features of MERRF are not necessarily uniform in the early stage and muscle biopsy findings are also very mild in some patients with MERRF, necessitating genetic analysis for diagnosis. Most of patients show a point mutation (A --> G) of nt 8344 in mitochondrial DNA.

  1. Castleman disease and associated autoimmune disease. (United States)

    Muskardin, Theresa W; Peterson, Bruce A; Molitor, Jerry A


    Castleman disease can occur in association with autoimmune connective tissue disease and confound the clinical picture, resulting in delayed diagnosis and suboptimal treatment. This review focuses on the intersection of Castleman disease and autoimmunity with an emphasis on shared pathology and mutually beneficial treatments. Targeting CD-20, interleukin-6, and the nuclear factor-κB pathway has shown promise in achieving long-term remission in patients with Castleman disease and associated autoimmune features. Advances in understanding of pathogenic cell types and cytokines in Castleman disease have allowed the development of targeted therapies successful in the treatment of both Castleman disease and associated autoimmune disease.

  2. A Reversible Cause of Skin Hyperpigmentation and Postural Hypotension

    Directory of Open Access Journals (Sweden)

    Rabia Cherqaoui


    Full Text Available Vitamin B12 deficiency results in neuropsychiatric, hematologic, gynecologic, cardiovascular, and cutaneous manifestations. It is seen most commonly in the elderly, malabsorption diseases  (>60% of all cases, vegans, and vegetarians. Manifestations of pernicious anemia may be similar to Addison disease and may lead to a misdiagnosis. Herein, we report two cases of vitamin B12 deficiency in which clinical features shared many similarities with Addison disease. Both patients presented with progressive darkening of hands and postural hypotension that reversed with replenishment of vitamin B12. Vitamin B12 deficiency should be considered in patients presenting with skin lesions especially with other coexisting autoimmune diseases.

  3. Common hyperpigmentation disorders in adults: Part I. Diagnostic approach, café au lait macules, diffuse hyperpigmentation, sun exposure, and phototoxic reactions. (United States)

    Stulberg, Daniel L; Clark, Nicole; Tovey, Daniel


    The cause of hyperpigmentation usually is traced to the activity and presence of melanocytes. Café au lait macules may be solitary benign findings or may indicate the presence of neurofibromatosis with its associated complications. Diffuse hyperpigmentation should prompt a search for offending medications or systemic diseases such as hemochromatosis, hyperthyroidism, and Addison's disease. In these instances, the hyperpigmentation may be ameliorated by discontinuing offending medications, performing serial phlebotomy in patients with hemochromatosis, instituting cause-specific treatments in patients with hyperthyroidism, and replacing deficient glucocorticoids and mineralocorticoids in patients with Addison's disease. Cosmetic treatment with bleaching agents or lasers can be used to decrease pigmentation of ephelides (freckles) and lentigines.

  4. CK (Creatine Kinase) Test (United States)

    ... thyroid disorders , Addison disease or Cushing disease Strenuous exercise Prolonged surgeries Seizures Infections – viral (such as influenza and HIV ), bacterial , fungal , and parasitic (such as malaria ) Connective tissue disorders (e.g. lupus , rheumatoid arthritis ) Celiac disease Renal failure In critically ...

  5. Associated Autoimmune Diseases (United States)

    ... commonly associated with celiac disease - Grave’s disease and Hashimoto’s disease. Grave’s Disease: An overactive thyroid. Symptoms may ... feeling too warm, restlessness, insomnia, diarrhea, irritability, palpitations. Hashimoto’s Disease: An underactive thyroid. Symptoms may include weight ...

  6. Alzheimer's Disease: The Death of the Disease. (United States)

    McBroom, Lynn W.


    Alzheimer's disease, a form of dementia in middle-age and older adults is becoming more evident because of growing numbers of older people and better diagnosis and detection methods. Describes the behavioral and physical symptoms of the disease as well as specific suggestions for care of patients with Alzheimer's disease, including dealing with…

  7. Chronic kidney disease and cardiovascular disease

    African Journals Online (AJOL)


    Aug 16, 2007 ... disease (CKD). It is unclear how much of the association between kidney and vascular disease results from. • vascular disease causing kidney failure. • kidney failure causing vascular ... patients with CKD, with acute myocardial infarction accounting for 20% of ... failure and death. Valvular calcification may.

  8. Lysosomal storage disease 2 - Pompe's disease

    NARCIS (Netherlands)

    van der Ploeg, Ans T.; Reuser, Arnold J. J.


    Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage. Pompe's disease is also

  9. Understanding cardiovascular disease (United States)

    ... page: // Understanding cardiovascular disease To use the sharing features on this ... lead to heart attack or stroke. Types of Cardiovascular Disease Coronary heart disease (CHD) is the most ...

  10. Learn About Neuromuscular Disease (United States)

    ... for MDA Blog Donate Search Close Learn About Neuromuscular Disease Muscular dystrophy, ALS and related ... power of a multiple-disease approach, MDA leverages learnings from one disease to accelerate progress in others ...

  11. Heart Disease and Stroke (United States)

    ... email updates Enter email Submit Heart Disease and Stroke Heart disease and stroke are important health issues ... Stroke risk factors View more Heart Disease and Stroke resources Related information Heart-healthy eating Stress and ...

  12. Pediatric Celiac Disease (United States)

    ... of Pediatric Gastroenterology and Nutrition Nurses Print Share Celiac Disease Many kids have sensitivities to certain foods, and ... protein found in wheat, rye, and barley. Pediatric Celiac Disease If your child has celiac disease, consuming gluten ...

  13. Pregnancy and Kidney Disease (United States)

    ... Donate A to Z Health Guide Pregnancy and Kidney Disease Tweet Share Print Email A new baby is ... disease and pregnancy. Can a woman with "mild" kidney disease have a baby? That depends. There is good ...

  14. Chronic Kidney Diseases (United States)

    ... Weight for Me? Your Teeth Heart Murmurs Chronic Kidney Diseases KidsHealth > For Kids > Chronic Kidney Diseases Print A ... pressure at a healthy level. continue Kinds of Kidney Diseases Like any complicated machine, not all kidneys work ...

  15. Parkinson disease - discharge (United States)

    Your doctor has told you that you have Parkinson disease . This disease affects the brain and leads ... have you take different medicines to treat your Parkinson disease and many of the problems that may ...

  16. Chronic Kidney Disease (CKD) (United States)

    ... store Donate Now Give Monthly Give In Honor Chronic kidney disease (CKD) > Kidney Disease > Chronic Kidney ... treated? Kidney-friendly diet for CKD What causes chronic kidney disease (CKD)? Anyone can get CKD. Some people are ...

  17. Lyme Disease Data (United States)

    ... Lyme disease FAQ Health care providers Educational materials Data and Statistics Recommend on Facebook Tweet Share Compartir ... sixth most common Nationally Notifiable disease . Lyme Disease Data File To facilitate the public health and research ...

  18. Autoimmune liver disease panel (United States)

    Liver disease test panel - autoimmune ... Autoimmune disorders are a possible cause of liver disease. The most common of these diseases are autoimmune hepatitis and primary biliary cholangitis (formerly called primary biliary cirrhosis). This group of tests ...

  19. Liver Disease and IBD (United States)

    ... Home > Resources > Liver Disease and IBD Go Back Liver Disease and IBD Email Print + Share Several complications ... be necessary to make the definitive diagnosis. FATTY LIVER DISEASE (HEPATCI STEATOSIS) This is the most common ...

  20. Eye Disease Simulations (United States)

    ... USAJobs Home > Eye Health Information > Eye Disease Simulations Eye Disease Simulations Age-Related Macular Degeneration Cataract Diabetic ... information page Back to top Diabetic Retinopathy Diabetic Eye Disease information page Back to top Glaucoma Glaucoma ...

  1. Quiz: Alzheimer's Disease (United States)

    ... of this page please turn JavaScript on. Feature: Alzheimer's Disease Quiz: Alzheimer's Disease Past Issues / Winter 2015 Table of Contents ... How many Americans over age 65 may have Alzheimer's disease? as many as 5 million as many ...

  2. Pelvic Inflammatory Disease (PID) (United States)

    Pelvic Inflammatory Disease (PID) - CDC Fact Sheet Untreated sexually transmitted diseases (STDs) can cause pelvic inflammatory disease (PID), a serious condition, in women. 1 in 8 women with a history of ...

  3. Heart Diseases and Disorders (United States)

    ... Resources Heart Diseases & Disorders Back to Patient Resources Heart Diseases & Disorders Millions of people experience irregular or abnormal ... harmless and happen in healthy people free of heart disease. However, some abnormal heart rhythms can be serious ...

  4. Heart Disease (For Kids) (United States)

    ... System Taking Care of Your Teeth Bad Breath Heart Disease KidsHealth > For Kids > Heart Disease Print A A ... chest pain, heart attacks, and strokes . What Is Heart Disease? The heart is the center of the cardiovascular ...

  5. Lyme disease (image) (United States)

    Lyme disease is an acute inflammatory disease characterized by skin changes, joint inflammation and symptoms similar to ... that is caused by the bacterium Borrelia burgdorferi . Lyme disease is transmitted by the bite of a ...

  6. Changes in cortisol metabolism following rifampicin therapy. (United States)

    Edwards, O M; Courtenay-Evans, R J; Galley, J M; Hunter, J; Tait, A D


    A patient with Addison's disease required increased corticosteroid dosage whilst receiving rifampicin. The pharmacological half-life of cortisol was reduced, but returned to normal when rifampicin was stopped. Cortisolproduction rates in four patients with pulmonary tuberculosis rose during treatment with rifampicin, as did urinary D-glucaric-acid excretion, an index of liver microsomal-enzyme activity. The alteration of the corticosteroid requirement in the patient with Addison's disease and the elevation of the cortisol-production rates were attributed to increased cortisol catabolism following hepatic macrosomal-enzyme induction by rifampicin.

  7. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Anxiety in Parkinson's Disease Expert Briefings: Cognitive Issues: Advice for Parkinson's Care Partners Expert Briefings: Nutrition and Parkinson's Disease NY Nightly News with Chuck ...

  8. Biomarker for Glycogen Storage Diseases (United States)


    Fructose Metabolism, Inborn Errors; Glycogen Storage Disease; Glycogen Storage Disease Type I; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Glycogen Storage Disease Type VI; Glycogen Storage Disease Type VII; Glycogen Storage Disease Type VIII

  9. Disease: H00131 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available splenomegaly, and cardiac valve disease. Inherited metabolic disease; Lysosomal storage disease (MPS6) ARSB;... TITLE ... Current strategies in the management of lysosomal storage diseases. ...

  10. Cardiovascular disease biomarkers across autoimmune diseases. (United States)

    Ahearn, Joseph; Shields, Kelly J; Liu, Chau-Ching; Manzi, Susan


    Cardiovascular disease is increasingly recognized as a major cause of premature mortality among those with autoimmune disorders. There is an urgent need to identify those patients with autoimmune disease who are at risk for CVD so as to optimize therapeutic intervention and ultimately prevention. Accurate identification, monitoring and stratification of such patients will depend upon a panel of biomarkers of cardiovascular disease. This review will discuss some of the most recent biomarkers of cardiovascular diseases in autoimmune disease, including lipid oxidation, imaging biomarkers to characterize coronary calcium, plaque, and intima media thickness, biomarkers of inflammation and activated complement, genetic markers, endothelial biomarkers, and antiphospholipid antibodies. Clinical implementation of these biomarkers will not only enhance patient care but also likely accelerate the pharmaceutical pipeline for targeted intervention to reduce or eliminate cardiovascular disease in the setting of autoimmunity. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. Rheumatic diseases and pregnancy

    African Journals Online (AJOL)

    In rheumatoid arthritis, on the other hand, there is spontaneous improvement in disease symptoms. However, rheumatic diseases and their treatment can have a significant impact on pregnancy outcomes. Poor pregnancy outcomes are largely associated with high disease activity. Pregnant women with rheumatic diseases ...

  12. The integrated disease network. (United States)

    Sun, Kai; Buchan, Natalie; Larminie, Chris; Pržulj, Nataša


    The growing body of transcriptomic, proteomic, metabolomic and genomic data generated from disease states provides a great opportunity to improve our current understanding of the molecular mechanisms driving diseases and shared between diseases. The use of both clinical and molecular phenotypes will lead to better disease understanding and classification. In this study, we set out to gain novel insights into diseases and their relationships by utilising knowledge gained from system-level molecular data. We integrated different types of biological data including genome-wide association studies data, disease-chemical associations, biological pathways and Gene Ontology annotations into an Integrated Disease Network (IDN), a heterogeneous network where nodes are bio-entities and edges between nodes represent their associations. We also introduced a novel disease similarity measure to infer disease-disease associations from the IDN. Our predicted associations were systemically evaluated against the Medical Subject Heading classification and a statistical measure of disease co-occurrence in PubMed. The strong correlation between our predictions and co-occurrence associations indicated the ability of our approach to recover known disease associations. Furthermore, we presented a case study of Crohn's disease. We demonstrated that our approach not only identified well-established connections between Crohn's disease and other diseases, but also revealed new, interesting connections consistent with emerging literature. Our approach also enabled ready access to the knowledge supporting these new connections, making this a powerful approach for exploring connections between diseases.

  13. some thoughts on medical training from a morbidity survey in ...

    African Journals Online (AJOL)

    963 classification of disease-amended version-of the. :ollege of General ..... second a case of Addison's disease-I have been searching in vain for the past 10 years ... treatment and those not, and that every patient presents three features for ...

  14. HIV/AIDS stigma at the workplace: Exploratory findings from Pakistan

    African Journals Online (AJOL)

    Sajid Bashir PhD a


    Aug 20, 2012 ... (2000) examined stigma at the workplace for different diseases/ disabilities but HIV/AIDS .... years after diagnosis of the disease, indicating that job loss is an imminent ..... Needs, Addison-Wesley, Reading, MA. Sikkema, K.J. ...

  15. [Periodontal disease in pediatric rheumatic diseases]. (United States)

    Fabri, Gisele M C; Savioli, Cynthia; Siqueira, José T; Campos, Lucia M; Bonfá, Eloisa; Silva, Clovis A


    Gingivitis and periodontitis are immunoinflammatory periodontal diseases characterized by chronic localized infections usually associated with insidious inflammation This narrative review discusses periodontal diseases and mechanisms influencing the immune response and autoimmunity in pediatric rheumatic diseases (PRD), particularly juvenile idiopathic arthritis (JIA), childhood-onset systemic lupus erythematosus (C-SLE) and juvenile dermatomyositis (JDM). Gingivitis was more frequently observed in these diseases compared to health controls, whereas periodontitis was a rare finding. In JIA patients, gingivitis and periodontitis were related to mechanical factors, chronic arthritis with functional disability, dysregulation of the immunoinflammatory response, diet and drugs, mainly corticosteroids and cyclosporine. In C-SLE, gingivitis was associated with longer disease period, high doses of corticosteroids, B-cell hyperactivation and immunoglobulin G elevation. There are scarce data on periodontal diseases in JDM population, and a unique gingival pattern, characterized by gingival erythema, capillary dilation and bush-loop formation, was observed in active patients. In conclusion, gingivitis was the most common periodontal disease in PRD. The observed association with disease activity reinforces the need for future studies to determine if resolution of this complication will influence disease course or severity. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.

  16. Treating neglected tropical diseases

    Directory of Open Access Journals (Sweden)

    Director: Mectizan Donation Program, Georgia, USA.


    Full Text Available The name neglected tropical diseases (NTDs covers a range of diseases that cause disability, early death, and slowed physical and mental development. The first two in entries Table 1 are diseases that cause blindness. These diseases of neglected and impoverished peoples maintain a cycle of poverty and delayed development of the populations affected. The diseases themselves have been neglected in the push to control malaria, TB and AIDS.

  17. The Relationship Between Fatty Liver Disease and Periodontal Disease (United States)


    Periodontitis is a highly prevalent and destructive chronic disease. Numerous studies support an association between periodontal disease and other...systemic diseases ( diabetes , cardiovascular disease, chronic kidney disease, adverse pregnancy outcome, etc.). Non-alcoholic fatty liver disease is a...destruction seen in periodontal disease. The association between the two diseases has never been investigated. A reasonable mechanism in which periodontal

  18. Neuroinflammation in Alzheimer's disease and prion disease

    NARCIS (Netherlands)

    Eikelenboom, P.; Bate, C.; van Gool, W. A.; Hoozemans, J. J. M.; Rozemuller, J. M.; Veerhuis, R.; Williams, A.


    Alzheimer's disease (AD) and prion disease are characterized neuropathologically by extracellular deposits of Abeta and PrP amyloid fibrils, respectively. In both disorders, these cerebral amyloid deposits are co-localized with a broad variety of inflammation-related proteins (complement factors,

  19. Coronary Artery Disease - Coronary Heart Disease (United States)

    ... other risk factors. Overweight and obese adults with risk factors for cardiovascular disease such as high blood pressure, high cholesterol, ... lead to clinically meaningful reductions in some risk factors, larger weight ... of developing cardiovascular disease. Even when glucose levels are under control, ...

  20. Lyme disease associated with Alzheimer's disease. (United States)

    Meer-Scherrer, Laurence; Chang Loa, Chien; Adelson, Martin E; Mordechai, Eli; Lobrinus, Johannes Alexander; Fallon, Brian A; Tilton, Richard C


    This case report discusses a patient with co-occurring neuroborreliosis and Alzheimer's disease (AD). Although no claim is made for causality nor is there objective evidence that spirochetes are involved in AD, co-infection may exacerbate the symptoms of either neuroborreliosis or AD. Much is to be learned about the role of spirochetes in degenerative central nervous system disease.

  1. Mycobacterial disease in patients with rheumatic disease.

    NARCIS (Netherlands)

    Ingen, J. van; Boeree, M.J.; Dekhuijzen, P.N.R.; Soolingen, D van


    This Review focuses on the emergence of mycobacterial disease in patients undergoing treatment for rheumatic disease with four new drug classes--tumor necrosis factor (TNF) inhibitors, human interleukin (IL)-1 receptor antagonists, anti-CD20 antibodies and CD4(+) T-cell costimulation

  2. Inflammatory bowel diseases, celiac disease, and bone. (United States)

    Bianchi, Maria Luisa


    The article summarizes the current knowledge on the pathogenesis, clinical aspects and treatment of bone problems in the major inflammatory bowel diseases (Crohn's disease and ulcerative colitis) and celiac disease. It presents the physiological relationship between intestine and bone as well as the alterations determined by disease-disrupted intestinal integrity. Two hypotheses about the pathogenetic mechanisms of bone metabolism derangements and bone loss are discussed: the classical one, that indicates calcium malabsorption as the main culprit, and the new one, that emphasizes the role of inflammation. The article summarizes the available epidemiological data about osteopenia/osteoporosis and fragility fractures in these chronic intestinal diseases and presents the state-of-the-art treatment options. Copyright © 2010 Elsevier Inc. All rights reserved.

  3. Obesity and cardiovascular disease. (United States)

    Jokinen, E


    Cardiovascular disease is the most common cause of mortality in rich countries and today it has the same meaning for health care as the epidemics of past centuries had for medicine in earlier times: 50% of the population in these countries die of cardiovascular disease. The amount of cardiovascular disease is also increasing in the developing countries together with economic growth. By 2015 one in three deaths will globally be due to cardiovascular diseases. Coronary heart disease is a chronic disease that starts in childhood, even if the symptoms first occur in the middle age. The risks for coronary heart disease are well-known: lipid disorders, especially high serum LDL-cholesterol concentration, high blood pressure, tobacco smoking, obesity, diabetes, male gender and physical inactivity. Obesity is both an independent risk factor for cardiovascular disease but is also closely connected with several other risk factors. This review focuses on the connection between overweight or obesity and cardiovascular disease.

  4. Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (United States)


    Rare Disorders; Undiagnosed Disorders; Disorders of Unknown Prevalence; Cornelia De Lange Syndrome; Prenatal Benign Hypophosphatasia; Perinatal Lethal Hypophosphatasia; Odontohypophosphatasia; Adult Hypophosphatasia; Childhood-onset Hypophosphatasia; Infantile Hypophosphatasia; Hypophosphatasia; Kabuki Syndrome; Bohring-Opitz Syndrome; Narcolepsy Without Cataplexy; Narcolepsy-cataplexy; Hypersomnolence Disorder; Idiopathic Hypersomnia Without Long Sleep Time; Idiopathic Hypersomnia With Long Sleep Time; Idiopathic Hypersomnia; Kleine-Levin Syndrome; Kawasaki Disease; Leiomyosarcoma; Leiomyosarcoma of the Corpus Uteri; Leiomyosarcoma of the Cervix Uteri; Leiomyosarcoma of Small Intestine; Acquired Myasthenia Gravis; Addison Disease; Hyperacusis (Hyperacousis); Juvenile Myasthenia Gravis; Transient Neonatal Myasthenia Gravis; Williams Syndrome; Lyme Disease; Myasthenia Gravis; Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome); Isolated Klippel-Feil Syndrome; Frasier Syndrome; Denys-Drash Syndrome; Beckwith-Wiedemann Syndrome; Emanuel Syndrome; Isolated Aniridia; Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11; Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15; Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion; Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication; Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion; Axenfeld-Rieger Syndrome; Aniridia-intellectual Disability Syndrome; Aniridia - Renal Agenesis - Psychomotor Retardation; Aniridia - Ptosis - Intellectual Disability - Familial Obesity; Aniridia - Cerebellar Ataxia - Intellectual Disability; Aniridia - Absent Patella; Aniridia; Peters Anomaly - Cataract; Peters Anomaly; Potocki-Shaffer Syndrome; Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11; Silver-Russell Syndrome Due to Imprinting Defect of 11p15; Silver-Russell Syndrome Due to 11p15 Microduplication; Syndromic Aniridia; WAGR Syndrome; Wolf

  5. Living with Diabetic Heart Disease (United States)

    ... Home / Diabetic Heart Disease Diabetic Heart Disease What Is The term "diabetic heart ... Web page. What Heart Diseases Are Involved in Diabetic Heart Disease? DHD may include coronary heart disease ( ...

  6. Nonalcoholic Fatty Liver Disease & NASH (United States)

    ... NASH). Weight loss can reduce fat in the liver, inflammation, and fibrosis. No medicines have been approved to treat NAFLD ... Health Information Diabetes Digestive Diseases Kidney Disease Weight Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  7. Vanishing White Matter Disease (United States)

    ... In Memory Of Obituaries Contact Us Donate Vanishing White Matter Disease What is Vanishing White Matter Disease? ... of the genetic basis of VWM was a great step forward. First of all, it allows genetic ...

  8. APOE Genotyping, Cardiovascular Disease (United States)

    ... Resources For Health Professionals Subscribe Search APOE Genotyping, Cardiovascular Disease Send Us Your Feedback Choose Topic At ... help understand the role of genetic factors in cardiovascular disease . However, the testing is sometimes used in ...

  9. Parkinson's Disease: Exercise (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  10. What Is Parkinson's Disease? (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  11. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  12. Parkinson's Disease Foundation News (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  13. Mobility (Parkinson's Disease) (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  14. Diagnosis (Parkinson's Disease) (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  15. What Is Kawasaki Disease? (United States)

    ANSWERS by heart Cardiovascular Conditions What is Kawasaki Disease? Kawasaki disease is a children’s illness. It’s also known as Kawasaki syndrome or mucocutaneous lymph node syndrome. About 75 percent of people ...

  16. Heart disease and women (United States)

    ... 22367731 . Ridker PM, Libby P, Buring JE. Risk markers and the primary prevention of cardiovascular disease. In: Mann DL, Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine . 10th ed. ...

  17. Coronary heart disease (United States)

    ... 21325087 . Ridker PM, Libby P, Buring JE. Risk markers and the primary prevention of cardiovascular disease. In: Mann DL, Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine . 10th ed. ...

  18. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  19. Disseminated hydatid disease. (United States)

    Canda, Aras Emre


    Echinococcus infestation is endemic in certain parts of the world. Extrahepatic dissemination of the disease is rare. Successful management of these patients and possible routes for abdominopelvic dissemination of the disease are discussed.

  20. Celiac disease - sprue (United States)

    ... Gluten intolerance; Gluten-sensitive enteropathy; Gluten-free diet celiac disease ... The exact cause of celiac disease is unknown. The lining of the intestines have small areas called villi which project outward into the opening of the ...

  1. Celiac disease - nutritional considerations (United States)

    ... this page: // Celiac disease - nutritional considerations To use the sharing features on this page, please enable JavaScript. Celiac disease is an immune disorder passed down through families. ...

  2. Lewy Body Disease (United States)

    Lewy body disease is one of the most common causes of dementia in the elderly. Dementia is the loss ... enough to affect normal activities and relationships. Lewy body disease happens when abnormal structures, called Lewy bodies, ...

  3. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis What Are Some Strategies for Problems with Urination? CareMAP: Changes Around the House: Part 1 CareMAP: Cambios para ...

  4. Diabetic Heart Disease (United States)

    ... about other tests and procedures, go to the diagnosis sections of the Health Topics Coronary Heart Disease , Heart Failure , and Cardiomyopathy articles. Treatment Diabetic heart disease (DHD) is treated ...

  5. Cat Scratch Disease (United States)

    Cat scratch disease (CSD) is an illness caused by the bacterium Bartonella henselae. Almost half of all cats carry the infection ... symptoms of CSD, call your doctor. Centers for Disease Control and Prevention

  6. Pelvic Inflammatory Disease (United States)

    Pelvic inflammatory disease (PID) is an infection and inflammation of the uterus, ovaries, and other female reproductive organs. It causes scarring ... United States. Gonorrhea and chlamydia, two sexually transmitted diseases, are the most common causes of PID. Other ...

  7. Carotid Artery Disease (United States)

    ... head with blood. If you have carotid artery disease, the arteries become narrow or blocked, usually because ... other substances found in the blood. Carotid artery disease is serious because it can block the blood ...

  8. Creutzfeldt-Jakob Disease (United States)

    Creutzfeldt-Jakob disease (CJD) is a rare, degenerative brain disorder. Symptoms usually start around age 60. Memory problems, behavior changes, vision ... during a medical procedure Cattle can get a disease related to CJD called bovine spongiform encephalopathy (BSE) ...

  9. Peripheral Arterial Disease (United States)

    Peripheral arterial disease (PAD) happens when there is a narrowing of the blood vessels outside of your heart. The cause of ... smoking. Other risk factors include older age and diseases like diabetes, high blood cholesterol, high blood pressure, ...

  10. Chronic Kidney Disease (United States)

    ... help control blood pressure, and make hormones. Chronic kidney disease (CKD) means that your kidneys are damaged and ... people don't have any symptoms until their kidney disease is very advanced. Blood and urine tests are ...

  11. Interstitial Lung Disease (United States)

    ... may include: Silica dust Asbestos fibers Grain dust Bird and animal droppings Radiation treatments Indoor hot tubs ... be at increased risk of interstitial lung disease. Smoking. Some forms of interstitial lung disease are more ...

  12. Parkinson's Disease Glossary (United States)

    ... Bachmann-Strauss Prize Alpha-Synuclein Imaging Prize HOME › PARKINSON'S DISEASE GLOSSARY A | B | C | D | E | F | ... used to treat mild to moderate dementia in Parkinson's disease. These drugs increase brain levels of a ...

  13. Alcoholic Liver Disease (United States)

    ... liver disease is more likely to develop if people Drink large amounts of alcohol Have been drinking a long time (usually, for more than 8 years) Are women Have a genetic makeup that makes them susceptible to alcoholic liver disease ...

  14. Gestational trophoblastic disease (United States)

    ... this page: // Gestational trophoblastic disease To use the sharing features on this page, please enable JavaScript. Gestational trophoblastic disease (GTD) is a group of conditions in which ...

  15. Diet - chronic kidney disease (United States)

    ... page: // Diet - chronic kidney disease To use the sharing features on this page, ... make changes to your diet when you have chronic kidney disease (CKD). These changes may include limiting fluids, eating ...

  16. Motor Neuron Diseases (United States)

    ... conducting clinical trials to study drugs to stimulate muscle growth in Kennedy’s disease and to suppress endogenous retroviruses ... conducting clinical trials to study drugs to stimulate muscle growth in Kennedy’s disease and to suppress endogenous retroviruses ...

  17. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Disease Affect the Urinary System? How Does Speech Therapy Help Parkinson's Patients? How Does the DBS Device Work? How ... OHSU - Parkinson's Disease: Managing Depression, Anxiety & Psychosis OHSU - ... - Therapeutic Approaches for PD: Depression, Anxiety & Psychosis Out of ...

  18. Alcoholic liver disease (United States)

    Liver disease due to alcohol; Cirrhosis or hepatitis - alcoholic; Laennec's cirrhosis ... Alcoholic liver disease occurs after years of heavy drinking. Over time, scarring and cirrhosis can occur. Cirrhosis is the ...

  19. Diet - liver disease (United States)

    ... page: // Diet - liver disease To use the sharing features on this page, please enable JavaScript. Some people with liver disease must eat a special diet. This diet ...

  20. The Human Disease Network

    National Research Council Canada - National Science Library

    Kwang-Il Goh; Michael E. Cusick; David Valle; Barton Childs; Marc Vidal; Albert-László Barabási


    A network of disorders and disease genes linked by known disordergene associations offers a platform to explore in a single graphtheoretic framework all known phenotype and disease gene associations...

  1. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Issues: Advice for Parkinson's Care Partners Expert Briefings: Nutrition and Parkinson's Disease NY Nightly News with Chuck ... Briefings: What's in the Parkinson's Pipeline? Expert Briefings: Nutrition and Parkinson's Disease 2010 Expert Briefings: Legal Issues: ...

  2. Inflammation and Heart Disease (United States)

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More Inflammation and Heart Disease Updated:Jun 13,2017 Understand the risks of inflammation. Although it is not proven that inflammation causes ...

  3. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... here Home PD Library Search library Topic Type Nurse Webinars: Interdisciplinary Education on Parkinson's Disease Expert Briefings: ... Disease: Financial, Legal and Medical Planning Tips for Care Partners Help is just a click away. The ...

  4. Treatments for Alzheimer's Disease (United States)

    ... 3900 Find your chapter: search by state Home > Alzheimer's Disease > Treatments Overview What Is Dementia? What Is Alzheimer's? ... and move closer to a cure. Treatments for Alzheimer's disease Currently, there is no cure for Alzheimer's. But ...

  5. American Behcet's Disease Association (United States)

    ... org/en/community/behcet-s-syndrome Upcoming Events American Behcet's Disease Association PO BOX 80576 Rochester, MI 48308 Contact Us | Website Policy | American Behcet's Disease Association Copyright 2014

  6. Blood and Lymph Diseases (United States)

    ... as well as to serious conditions such as cancer. Diseases Anemia, sickle cell Burkitt lymphoma Gaucher ... View Cite this Page National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): ...

  7. Chronic thyroiditis (Hashimoto disease) (United States)

    ... this page: // Chronic thyroiditis (Hashimoto disease) To use the sharing features on this page, ... Hashimoto Images Endocrine glands Thyroid enlargement - scintiscan Hashimoto's disease (chronic thyroiditis) Thyroid gland References Amino N, Lazarus JH, ...

  8. Anemia of chronic disease (United States)

    ... Anemia of chronic disease To use the sharing features on this page, ... There are many types of anemia. Anemia of chronic disease (ACD) is anemia that is found in people ...

  9. Children and Parasitic Diseases (United States)

    ... this infection if their mother was infected during pregnancy. Several parasitic diseases occur occasionally in the United States and ... clothing. Soil-transmitted helminth (STH) diseases ("helminth" means ... intestinal obstruction, anemia, and retarded growth and cognitive development. ...

  10. Acquired Cystic Kidney Disease (United States)

    ... Diabetes Inspidus Glomerular Diseases Goodpasture Syndrome Henoch-Schönlein Purpura IgA Nephropathy Kidney Disease in Children Childhood Nephrotic ... will treat infections with antibiotics—medications that kill bacteria. If large cysts are causing pain, a health ...

  11. Collagen vascular disease (United States)

    ... page: // Collagen vascular disease To use the sharing features on this page, ... previously said to have "connective tissue" or "collagen vascular" disease. We now have names for many specific conditions ...

  12. Pregnancy and Thyroid Disease (United States)

    ... People Who Were Treated with hGH Thyroid Disease & Pregnancy Thyroid disease is a group of disorders that ... prescribes. What role do thyroid hormones play in pregnancy? Thyroid hormones are crucial for normal development of ...

  13. Tay-Sachs Disease (United States)

    ... SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in ...

  14. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Briefings: Dealing with Dementia in PD Expert Briefings: Anxiety in Parkinson's Disease Expert Briefings: Cognitive Issues: Advice ... and Tomorrow Expert Briefings: A Closer Look at Anxiety and Depression in Parkinson's Disease Expert Briefings: Driving ...

  15. Hypertensive heart disease (United States)

    ... page: // Hypertensive heart disease To use the sharing features on this page, please enable JavaScript. Hypertensive heart disease refers to heart problems that occur because of ...

  16. Heart disease and intimacy (United States)

    ... this page: // Heart disease and intimacy To use the sharing features on ... Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, ...

  17. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Expert Briefings: Anxiety in Parkinson's Disease Expert Briefings: Cognitive Issues: Advice for Parkinson's Care Partners Expert Briefings: Nutrition and Parkinson's Disease NY Nightly News with Chuck ...

  18. Hands in Systemic Disease (United States)

    ... because of disease ( gout in this case). Pyogenic Granuloma (Figure 10) This is a fleshy, moist, easily ... Figures Figure 1 - Arthritic Swelling Figure 10 - Pyogenic Granuloma Figure 11 - Terry's Nails Figure 2 - Buerger's Disease ...

  19. Cardiovascular diseases in China

    National Research Council Canada - National Science Library

    Liu, Lisheng


    .... World Health Organization statistics on the death rate for total cardiovascular disease, coronary heart disease, and stroke in men and women aged 35-74 years revealed discrepancies between rural...

  20. Fungal Diseases: Ringworm (United States)

    ... Patients Medications that Weaken Your Immune System Outbreaks Rhizopus Investigation CDC at Work Global Fungal Diseases Cryptococcal ... August 16, 2017 Content source: Centers for Disease Control and Prevention National Center for Emerging and Zoonotic ...

  1. Immunotherapy of Crohn's disease

    NARCIS (Netherlands)

    van Montfrans, C.; Camoglio, L.; van Deventer, S. J.


    Although the initiating events of Crohn's disease are unknown, models of experimental colitis have provided new insights in the immunologically mediated pathways of mucosal inflammation. In Crohn's disease activated mucosal T lymphocytes produce proinflammatory cytokines within the mucosal

  2. Osteoporosis and Gastrointestinal Disease


    Katz, Seymour; Weinerman, Stuart


    Gastrointestinal disease is often overlooked or simply forgotten as a cause of osteoporosis. Yet, the consequences of osteoporotic fractures can be devastating. Although the bulk of the published experience regarding osteoporosis is derived from the postmenopausal population, this review will focus on gastrointestinal disorders implicated in osteoporosis, with an emphasis on inflammatory bowel disease and celiac disease. The unique aspects of gastrointestinal diseases associated with osteopor...

  3. Functional bowel disease

    DEFF Research Database (Denmark)

    Rumessen, J J; Gudmand-Høyer, E


    Twenty-five patients with functional bowel disease were given fructose, sorbitol, fructose-sorbitol mixtures, and sucrose. The occurrence of malabsorption was evaluated by means of hydrogen breath tests and the gastrointestinal symptoms, if any, were recorded. One patient could not be evaluated...... with functional bowel disease. The findings may have direct influence on the dietary guidance given to a major group of patients with functional bowel disease and may make it possible to define separate entities in this disease complex....

  4. Comorbidity of periodontal disease

    DEFF Research Database (Denmark)

    Holmstrup, Palle; Damgaard, Christian; Olsen, Ingar


    Increasing evidence has suggested an independent association between periodontitis and a range of comorbidities, for example cardiovascular disease, type 2 diabetes, rheumatoid arthritis, osteoporosis, Parkinson's disease, Alzheimer's disease, psoriasis, and respiratory infections. Shared....... The present article presents an overview of the evidence linking periodontitis with selected systemic diseases and calls for increased cooperation between dentists and medical doctors to provide optimal screening, treatment, and prevention of both periodontitis and its comorbidities....

  5. Kawasaki Disease (For Parents) (United States)

    ... Late for the Flu Vaccine? Eating Disorders Arrhythmias Kawasaki Disease KidsHealth > For Parents > Kawasaki Disease Print A A A What's in this ... Complications Diagnosis Treatment en español La enfermedad de Kawasaki Kawasaki disease is an illness that involves the ...

  6. Occlusive Peripheral Arterial Disease (United States)

    ... but also to the worsening of the disease. Obstructive peripheral arterial disease most commonly develops in the arteries of the legs, including the two branches of the aorta (iliac arteries), main arteries of the thighs (femoral arteries), of ... arterial disease may also develop in the part ...

  7. sickle cell disease

    African Journals Online (AJOL)

    Summary. Background: Biochemical abnormalities have been associated with sickle cell disease. Studies on phosphorus and magnesium in sickle cell disease have been conflicting. The re is paucity of information on the role of these ions in the pathogenesis and management of sickle cell disease. This study was set out to ...

  8. Tick-Borne Diseases (United States)

    ... Topics Publications and Products Programs Contact NIOSH NIOSH TICK-BORNE DISEASES Recommend on Facebook Tweet Share Compartir Tick-borne ... viruses, or parasites. Some of the most common tick-borne diseases in the United States include: Lyme disease, babesiosis, ...

  9. Heart Disease in Women (United States)

    ... United States, 1 in 4 women dies from heart disease. The most common cause of heart disease in both men and women is narrowing ... the blood vessels that supply blood to the heart itself. This is called coronary artery disease, and ...

  10. Undifferentiated Connective Tissue Disease (United States)

    ... Examples of connective tissue diseases include lupus , scleroderma , rheumatoid arthritis , Sjögren's syndrome , myositis and vasculitis . There are many people who have features of connective tissue disease, however, they do not fulfill the diagnostic criteria established for any one disease. In such ...

  11. Gender and Cardiovascular Disease

    NARCIS (Netherlands)

    Den Ruijter, Hester M.; Pasterkamp, Gerard


    More women than men die of cardiovascular disease (CVD) each year in every major developed country and most emerging economies. Nonetheless, CVD has often been considered as men’s disease due to the higher rates of coronary artery disease (CAD) of men at younger age. This has led to the

  12. What Is Crohn's Disease? (United States)

    ... What are Crohn's & Colitis? > What is Crohn’s Disease? Crohn’s Disease is a Chronic Condition By understanding your body ... live a full and rewarding life What is Crohn’s Disease? Email Print + Share Named after Dr. Burrill B. ...

  13. Pompe disease: clinical perspectives

    Directory of Open Access Journals (Sweden)

    Cabello JF


    Full Text Available Juan Francisco Cabello,1 Deborah Marsden21Genetics and Metabolic Disease Laboratory, Nutrition and Food Technology Institute (INTA, University of Chile, Santiago, Chile; 2Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA Abstract: Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300 is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage disease type II. There is a broad clinical presentation: the most severe form that presents in the first few months of life with cardiomyopathy and generalized muscle weakness that rapidly progresses to death from cardio-respiratory failure in the first year of life (infant-onset Pompe disease. A more slowly progressive disease, with little or no cardiac involvement, presents with proximal myopathy and/or pulmonary insufficiency, from the second year of life to late adulthood (late-onset Pompe disease. The recent development and introduction of enzyme replacement therapy with intravenous infusion of recombinant human acid alpha-glucosidase have made a major improvement in the morbidity and mortality of this disease. New therapies are also in development. With the availability of treatment, diagnostic methods have also improved, allowing for earlier recognition and potential early therapeutic intervention. The advent of newborn screening for Pompe disease may identify patients who can be treated before significant irreversible disease has occurred. Keywords: Pompe disease, glycogen storage disease, lysosomal storage disease, enzyme replacement therapy, gene therapy, chaperone therapy, genotype/phenotype, newborn screening

  14. Lyme disease blood test (United States)

    The Lyme disease blood test looks for antibodies in the blood to the bacteria that causes Lyme disease. The test is used to help ... specialist looks for Lyme disease antibodies in the blood sample using the ELISA test . If the ELISA test is positive, it must ...

  15. Disease-modifying drugs in Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Ghezzi L


    Full Text Available Laura Ghezzi, Elio Scarpini, Daniela Galimberti Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Abstract: Alzheimer's disease (AD is an age-dependent neurodegenerative disorder and the most common cause of dementia. The early stages of AD are characterized by short-term memory loss. Once the disease progresses, patients experience difficulties in sense of direction, oral communication, calculation, ability to learn, and cognitive thinking. The median duration of the disease is 10 years. The pathology is characterized by deposition of amyloid beta peptide (so-called senile plaques and tau protein in the form of neurofibrillary tangles. Currently, two classes of drugs are licensed by the European Medicines Agency for the treatment of AD, ie, acetylcholinesterase inhibitors for mild to moderate AD, and memantine, an N-methyl-D-aspartate receptor antagonist, for moderate and severe AD. Treatment with acetylcholinesterase inhibitors or memantine aims at slowing progression and controlling symptoms, whereas drugs under development are intended to modify the pathologic steps leading to AD. Herein, we review the clinical features, pharmacologic properties, and cost-effectiveness of the available acetylcholinesterase inhibitors and memantine, and focus on disease-modifying drugs aiming to interfere with the amyloid beta peptide, including vaccination, passive immunization, and tau deposition. Keywords: Alzheimer's disease, acetylcholinesterase inhibitors, memantine, disease-modifying drugs, diagnosis, treatment

  16. Pathogenesis-Targeted, Disease-Modifying Therapies in Parkinson Disease

    National Research Council Canada - National Science Library

    AlDakheel, Amaal; Kalia, Lorraine V; Lang, Anthony E


    Parkinson disease is an inexorably progressive neurodegenerative disorder. Multiple attempts have been made to establish therapies for Parkinson disease which provide neuroprotection or disease modification...

  17. Addison′s disease

    Directory of Open Access Journals (Sweden)

    Soumya Brata Sarkar


    Full Text Available Addison′s disease is a rare endocrinal disorder, with several oral and systemic manifestations. A variety of pathological processes may cause Addison′s disease. Classically, hyperpigmentation is associated with the disease, and intraoral pigmentation is perceived as the initial sign and develops earlier than the dermatological pigmentation. The symptoms of the disease usually progress slowly and an event of illness or accident can make the condition worse and may lead to a life-threatening crisis. In this case, several oral as well as systemic manifestation of the Addison′s disease was encountered.

  18. Human Environmental Disease Network

    DEFF Research Database (Denmark)

    Taboureau, Olivier; Audouze, Karine


    During the past decades, many epidemiological, toxicological and biological studies have been performed to assess the role of environmental chemicals as potential toxicants for diverse human disorders. However, the relationships between diseases based on chemical exposure have been rarely studied...... by computational biology. We developed a human environmental disease network (EDN) to explore and suggest novel disease-disease and chemical-disease relationships. The presented scored EDN model is built upon the integration on systems biology and chemical toxicology using chemical contaminants information...

  19. Genetics of complex diseases

    DEFF Research Database (Denmark)

    Mellerup, Erling; Møller, Gert Lykke; Koefoed, Pernille


    A complex disease with an inheritable component is polygenic, meaning that several different changes in DNA are the genetic basis for the disease. Such a disease may also be genetically heterogeneous, meaning that independent changes in DNA, i.e. various genotypes, can be the genetic basis...... for the disease. Each of these genotypes may be characterized by specific combinations of key genetic changes. It is suggested that even if all key changes are found in genes related to the biology of a certain disease, the number of combinations may be so large that the number of different genotypes may be close...

  20. Viral Skin Diseases. (United States)

    Ramdass, Priya; Mullick, Sahil; Farber, Harold F


    In the vast world of skin diseases, viral skin disorders account for a significant percentage. Most viral skin diseases present with an exanthem (skin rash) and, oftentimes, an accompanying enanthem (lesions involving the mucosal membrane). In this article, the various viral skin diseases are explored, including viral childhood exanthems (measles, rubella, erythema infectiosum, and roseola), herpes viruses (herpes simplex virus, varicella zoster virus, Kaposi sarcoma herpes virus, viral zoonotic infections [orf, monkeypox, ebola, smallpox]), and several other viral skin diseases, such as human papilloma virus, hand, foot, and mouth disease, molluscum contagiosum, and Gianotti-Crosti syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Hereditary Renal Diseases. (United States)

    Mehta, Lakshmi; Jim, Belinda


    Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract. We provide the nephrologist with a general strategy to approach hereditary disorders, which includes a discussion of commonly used genetic tests, a guide to genetic counseling, and reproductive options such as prenatal diagnosis or pre-implantation genetic diagnosis for at-risk couples. Finally, we review pregnancy outcomes in certain renal diseases. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. Osteoporosis and gastrointestinal disease. (United States)

    Katz, Seymour; Weinerman, Stuart


    Gastrointestinal disease is often overlooked or simply forgotten as a cause of osteoporosis. Yet, the consequences of osteoporotic fractures can be devastating. Although the bulk of the published experience regarding osteoporosis is derived from the postmenopausal population, this review will focus on gastrointestinal disorders implicated in osteoporosis, with an emphasis on inflammatory bowel disease and celiac disease. The unique aspects of gastrointestinal diseases associated with osteoporosis include early onset of disease (and, therefore, prolonged exposure to risk factors for developing osteoporosis, particularly with inflammatory bowel disease and celiac disease), malabsorption, and maldigestion of nutrients necessary for bone health and maintenance (eg, calcium, vitamin D), as well as the impact of glucocorticoids. These factors, when added to smoking, a sedentary lifestyle, hypogonadism, and a family history of osteoporosis, accumulate into an imposing package of predictors for osteoporotic fracture. This paper will review the identification and treatment strategies for patients with gastrointestinal disorders and osteoporosis.

  3. Diagnosis of Pompe disease

    DEFF Research Database (Denmark)

    Vissing, John; Lukacs, Zoltan; Straub, Volker


    The diagnosis of Pompe disease (acid maltase deficiency, glycogen storage disease type II) in children and adults can be challenging because of the heterogeneous clinical presentation and considerable overlap of signs and symptoms found in other neuromuscular diseases. This review evaluates some...... to identify late-onset Pompe disease often leads to false-negative results and subsequent delays in identification and treatment of the disorder. Serum creatine kinase level can be normal or only mildly elevated in late-onset Pompe disease and is not very helpful alone to suggest the diagnosis...... of the methods used in the diagnosis and differential diagnosis of late-onset Pompe disease. Muscle biopsy is commonly used as an early diagnostic tool in the evaluation of muscle disease. However, experience has shown that relying solely on visualizing a periodic acid-Schiff-positive vacuolar myopathy...

  4. Celiac disease and autoimmune thyroid disease. (United States)

    Ch'ng, Chin Lye; Jones, M Keston; Kingham, Jeremy G C


    Celiac disease (CD) or gluten sensitive enteropathy is relatively common in western populations with prevalence around 1%. With the recent availability of sensitive and specific serological testing, many patients who are either asymptomatic or have subtle symptoms can be shown to have CD. Patients with CD have modest increases in risks of malignancy and mortality compared to controls. The mortality among CD patients who comply poorly with a gluten-free diet is greater than in compliant patients. The pattern of presentation of CD has altered over the past three decades. Many cases are now detected in adulthood during investigation of problems as diverse as anemia, osteoporosis, autoimmune disorders, unexplained neurological syndromes, infertility and chronic hypertransaminasemia of uncertain cause. Among autoimmune disorders, increased prevalence of CD has been found in patients with autoimmune thyroid disease, type 1 diabetes mellitus, autoimmune liver diseases and inflammatory bowel disease. Prevalence of CD was noted to be 1% to 19% in patients with type 1 diabetes mellitus, 2% to 5% in autoimmune thyroid disorders and 3% to 7% in primary biliary cirrhosis in prospective studies. Conversely, there is also an increased prevalence of immune based disorders among patients with CD. The pathogenesis of co-existent autoimmune thyroid disease and CD is not known, but these conditions share similar HLA haplotypes and are associated with the gene encoding cytotoxic T-lymphocyte-associated antigen-4. Screening high risk patients for CD, such as those with autoimmune diseases, is a reasonable strategy given the increased prevalence. Treatment of CD with a gluten-free diet should reduce the recognized complications of this disease and provide benefits in both general health and perhaps life expectancy. It also improves glycemic control in patients with type 1 diabetes mellitus and enhances the absorption of medications for associated hypothyroidism and osteoporosis. It

  5. Disease: H00069 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00069 Glycogen storage diseases (GSD), including: von Gierke disease (GSD type Ia); Pompe (GSD type II); Cori disease, Forbe disease (GSD type III); Andersen disease (GSD type IV); McArdle (GSD type V); Hers disease (GSD type VI); Tarui disease (GSD type VII); Phosphorylase kinase ...e deficiency (GSD type 0) Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and...gen, and type 0 for glycogen synthesis. Pompe disease (type II) is a lysosomal storage disease. Inherited metabolic disea

  6. [The Idiopathic Parkinson's disease: A metabolic disease?]. (United States)

    Rieu, I; Boirie, Y; Morio, B; Derost, P; Ulla, M; Marques, A; Debilly, B; Bannier, S; Durif, F


    Parkinson's disease is a neurodegenerative disorder clinically characterized by motor impairments (tremor, bradykinesia, rigidity and postural instability) associated or not with non-motor complications (cognitive disorders, dysautonomia). Most of patients loose weight during evolution of their disease. Dysregulations of hypothalamus, which is considered as the regulatory center of satiety and energy metabolism, could play a major role in this phenomenon. Deep brain stimulation of the subthalamic nucleus (NST) is an effective method to treat patients with advanced Parkinson's disease providing marked improvement of motor impairments. This chirurgical procedure also induces a rapid and strong body weight gain and sometimes obesity. This post-operative weight gain, which exceeds largely weight lost recorded in non-operated patient, could be responsible of metabolic disorders (such as diabetes) and cardiovascular diseases. This review describes body weight variations generated by Parkinson' disease and deep brain stimulation of the NST, and focuses on metabolic disorders capable to explain them. Finally, this review emphasizes on the importance of an adequate nutritional follow up care for parkinsonian patient. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

  7. Heart Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination (United States)

    ... Adult Vaccination Records Vaccine-Preventable Adult Diseases Resources Heart Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination ... are hospitalized, and some even die. People with heart disease and those who have suffered stroke are at ...

  8. Pediatric celiac disease. (United States)

    Zawahir, Shamila; Safta, Anca; Fasano, Alessio


    Celiac disease is an extremely common, although underdiagnosed, disorder. Knowledge about the varied clinical manifestations and the proper approach to screening and diagnosing celiac disease will lead to appropriate early intervention in affected children New age-dependent algorithms are emerging to properly screen for celiac disease. There is new evidence on the patchy nature of celiac disease supporting the practice of multiple duodenal biopsies including the bulb of the duodenum. Therapeutic dietary compliance, particularly in asymptomatic children, can be poor, and therefore, the involvement of a dietician trained in celiac disease is instrumental in keeping patients up to date with dietary guidelines and to improve their compliance to the diet. Expanding knowledge about the pathogenesis of celiac disease has led to the development of investigational therapeutic alternatives to the gluten-free diet. Ongoing clinical trials are evaluating methods of celiac disease prevention in at-risk infants. This review aims at outlining the different manifestations of celiac disease in children as well as a step-wise approach to screen and diagnose the disease. A better understanding of the pathogenic mechanisms of celiac disease is paving the way to innovative diagnostic tools, preventive strategies, and therapeutic interventions alternative to a gluten-free diet.

  9. Coeliac disease and epilepsy.

    LENUS (Irish Health Repository)

    Cronin, C C


    Whether there is an association between coeliac disease and epilepsy is uncertain. Recently, a syndrome of coeliac disease, occipital lobe epilepsy and cerebral calcification has been described, mostly in Italy. We measured the prevalence of coeliac disease in patients attending a seizure clinic, and investigated whether cerebral calcification occurred in patients with both coeliac disease and epilepsy. Screening for coeliac disease was by IgA endomysial antibody, measured by indirect immunofluorescence using sections of human umbilical cord. Of 177 patients screened, four patients were positive. All had small-bowel histology typical of coeliac disease. The overall frequency of coeliac disease in this mixed patient sample was 1 in 44. In a control group of 488 pregnant patients, two serum samples were positive (1 in 244). Sixteen patients with both coeliac disease and epilepsy, who had previously attended this hospital, were identified. No patient had cerebral calcification on CT scanning. Coeliac disease appears to occur with increased frequency in patients with epilepsy, and a high index of suspicion should be maintained. Cerebral calcification is not a feature of our patients with epilepsy and coeliac disease, and may be an ethnically-or geographically-restricted finding.

  10. Multiple cystic lung disease. (United States)

    Ferreira Francisco, Flavia Angélica; Soares Souza, Arthur; Zanetti, Gláucia; Marchiori, Edson


    Multiple cystic lung disease represents a diverse group of uncommon disorders that can present a diagnostic challenge due to the increasing number of diseases associated with this presentation. High-resolution computed tomography of the chest helps to define the morphological aspects and distribution of lung cysts, as well as associated findings. The combination of appearance upon imaging and clinical features, together with extrapulmonary manifestations, when present, permits confident and accurate diagnosis of the majority of these diseases without recourse to open-lung biopsy. The main diseases in this group that are discussed in this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis and folliculin gene-associated syndrome (Birt-Hogg-Dubé); other rare causes of cystic lung disease, including cystic metastasis of sarcoma, are also discussed. Disease progression is unpredictable, and understanding of the complications of cystic lung disease and their appearance during evolution of the disease are essential for management. Correlation of disease evolution and clinical context with chest imaging findings provides important clues for defining the underlying nature of cystic lung disease, and guides diagnostic evaluation and management. Copyright ©ERS 2015.

  11. Neonatal renal cystic diseases. (United States)

    Khare, Anshika; Krishnappa, Vinod; Kumar, Deepak; Raina, Rupesh


    Neonatal renal cystic diseases have a great impact on the morbidity and mortality of the affected neonates and infants. A good insight into the pathophysiology, diagnosis and treatment options of various neonatal renal cystic diseases aid in early diagnosis and intervention, thereby preventing complications. PubMed search was done for articles on "neonatal renal cystic diseases" and relevant publications including reviews were considered for our article. Both hereditary and nonhereditary causes of cystic kidney diseases can result in severe morbidity and mortality. The main diagnostic modality is ultrasound imaging and most of the neonatal renal cystic diseases are detected during prenatal ultrasound screening. Commonly encountered neonatal renal cystic diseases are autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease and multicystic dysplastic kidney. A thorough knowledge of various renal cystic diseases can be of extreme prognostic value. Physicians should be aware of the impact of early diagnosis and intervention on the lives of those affected. Further research about treatment of these diseases is ongoing and can result in breakthrough therapies for these patients.

  12. Genetics of Proteasome Diseases

    Directory of Open Access Journals (Sweden)

    Aldrin V. Gomes


    Full Text Available The proteasome is a large, multiple subunit complex that is capable of degrading most intracellular proteins. Polymorphisms in proteasome subunits are associated with cardiovascular diseases, diabetes, neurological diseases, and cancer. One polymorphism in the proteasome gene PSMA6 (−8C/G is associated with three different diseases: type 2 diabetes, myocardial infarction, and coronary artery disease. One type of proteasome, the immunoproteasome, which contains inducible catalytic subunits, is adapted to generate peptides for antigen presentation. It has recently been shown that mutations and polymorphisms in the immunoproteasome catalytic subunit PSMB8 are associated with several inflammatory and autoinflammatory diseases including Nakajo-Nishimura syndrome, CANDLE syndrome, and intestinal M. tuberculosis infection. This comprehensive review describes the disease-related polymorphisms in proteasome genes associated with human diseases and the physiological modulation of proteasome function by these polymorphisms. Given the large number of subunits and the central importance of the proteasome in human physiology as well as the fast pace of detection of proteasome polymorphisms associated with human diseases, it is likely that other polymorphisms in proteasome genes associated with diseases will be detected in the near future. While disease-associated polymorphisms are now readily discovered, the challenge will be to use this genetic information for clinical benefit.

  13. Author Details

    African Journals Online (AJOL)

    Mahajan, BB. Vol 6, No 1 (2008) - Articles Leukemia cutis in an Indian female – a rare entity. Abstract · Vol 8, No 2 (2010) - Articles Addisons disease in an Indian female – A rarity. Abstract. ISSN: 1815-3941. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More ...

  14. Examination of Urinary Beta-Naphthol as a Biomarker Indicative of Jet Fuel Exposures (United States)


    Disease Control and Prevention (CDC), 2005.Third National Report on Human Exposure to EnvironmentalChemicals. Department of Health and Human Services...bloxplot outlier? J Stat Educ (2011) 19:1-13. 15. Tukey JW. Exploratory Data Analysis. (1977) Addison -Wesley. 16. Kirkman TW. Statistics to Use. (1996

  15. Quality Attribute-Guided Evaluation of NoSQL Databases: An Experience Report (United States)


    such as insurance payers, public health, and clinical studies, can extract new insights for disease treatment and prevention, and reduce costs by...NoSQL Distilled. Addison -Wesley Professional, 2012. [5] E. Brewer, “CAP twelve years later: How the "rules" have changed,” Computer, vol. 45, no. 2

  16. Primary biliary cirrhosis: Diagnostic and therapeutic aspects

    NARCIS (Netherlands)

    E.M.M. Kuiper (Edith)


    textabstractPrimary Biliary Cirrhosis (PBC) is a relatively rare cholestatic liver disease. The first case was described by Addison and Gull in 1851. The name PBC is generally accepted, however in fact this is a misnomer since cirrhosis is found in a minority of patients. PBC is one of the most

  17. Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population.

    NARCIS (Netherlands)

    Sanches, S.A.; Wiegers, T.A.; Otten, B.J.; Claahsen-van der Grinten, H.L.


    BACKGROUND: Most research concerning congenital adrenal hyperplasia (CAH) and related conditions caused by primary adrenal insufficiency, such as Addison's or Cushing's disease, has focused on medical aspects rather than on patients' quality of life. Therefore, our objective was to investigate the

  18. Dissimilary in patients' and spouses' representations of chronic illness: exploration of relations to patient adaptation.

    NARCIS (Netherlands)

    Heijmans, M.; Ridder, D. de; Bensing, J.


    In this cross-sectional study, the illness representations of patients suffering from Chronic Fatigue Syndrome (n=49) and Addison's Disease (n=52) and those of their spouses were compared. Couples generally held similar views with regard to the dimensions of illness identity and cause but disagreed

  19. Browse Title Index

    African Journals Online (AJOL)

    Items 1 - 50 of 799 ... B Ordinioha, W Sawyer. Vol 16, No 1 (2007), Acute pulmonary embolism: A review, Abstract. JA Saleh, DD Alasia. Vol 15, No 4 (2006), Addison's disease presenting as acute chest syndrome: Case report and review of literature, Abstract. MR Akpa, OJ Odia. Vol 15, No 3 (2006), Adults perspective of ...

  20. Untitled

    African Journals Online (AJOL)

    pus erythematosis, Addisons disease, multiple sclerosis, .... not necessarily mean that it is the cause of the presenting dis- ease ... Gene therapy is another area receiving attention and trials. It is targeted at the correction of the identified immunoregulatoty aberrations which has become a new{ direction in the treatment of ...