Diagnosis and management of Addison's disease: insights gained ...

African Journals Online (AJOL)

The prevalence of Addison's disease in South Africa is lower than in Western countries. This is concerning, since patients could be dying, undiagnosed. Enhanced awareness of this highly treatable condition is warranted. The epidemiology, aetiology, clinical presentation, screening and management of Addison's disease ...

A suspected case of Addison's disease in cattle.

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Lambacher, Bianca; Wittek, Thomas

2015-09-01

A 4.75-year old Simmental cow was presented with symptoms of colic and ileus. The clinical signs and blood analysis resulted in the diagnosis of suspected primary hypoadrenocorticism (Addison's disease). Although Addison's disease has been frequently described in other domestic mammals, to our knowledge, this disease has not previously been reported in cattle.

Treatment of Addison's disease during pregnancy.

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Oliveira, Diana; Lages, Adriana; Paiva, Sandra; Carrilho, Francisco

2018-01-01

Addison's disease, or primary adrenocortical insufficiency, is a long-term, potentially severe, rare endocrine disorder. In pregnancy, it is even rarer. We report the case of a 30-year-old pregnant patient with Addison's disease, referred to Obstetrics-Endocrinology specialty consult at 14 weeks gestation. She had been to the emergency department of her local hospital various times during the first trimester presenting with a clinical scenario suggestive of glucocorticoid under-replacement (nausea, persistent vomiting and hypotension), but this was interpreted as normal pregnancy symptoms. Hydrocortisone dose was adjusted, and the patient maintained regular follow-up. No complications were reported for the remainder of gestation and delivery. Pregnant patients with Addison's disease should be monitored during gestation and in the peripartum period by multidisciplinary teams. Adjustments in glucocorticoid and mineralocorticoid replacement therapy are often necessary, and monitoring should be based mainly on clinical findings, which becomes increasingly difficult during pregnancy. Patient education and specialized monitoring are key to avoiding complications from under- or over-replacement therapy in this period. An increase in glucocorticoid replacement dose is expected to be necessary during pregnancy in a woman with Addison's disease.Patient education regarding steroid cover and symptoms of acute adrenal crisis are fundamental.Monitoring in this period is challenging and remains mainly clinical.The increase in hydrocortisone dose often obviates the need to increase fludrocortisone dose.

Computed tomography in the diagnosis of Addison's disease

International Nuclear Information System (INIS)

Yamauchi, Teiyu; Yashiro, Naofumi; Iio, Masahiro

1985-01-01

The computed tomography (CT) findings of the adrenal glands were described in six patients with Addison's disease. Three of four patients due to tuberculosis showed calcification in bilateral adrenal glands. In all three, non-calcified portions of left adrenal glands were identified by CT. One showed bilaterally enlarged adrenal glands. Bilateral adrenal glands were small in a patient with idiopatic Addison's disease. One patient of metastatic infiltration of the adrenal glands showed nodular masses in bilateral adrenal beds. CT findings were useful to clarify the etiology of Addison's patients. (author)

Immunology of Addison's disease and premature ovarian failure.

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Husebye, Eystein S; Løvås, Kristian

2009-06-01

Autoimmune Addison's disease and autoimmune ovarian insufficiency are caused by selective targeting by T and B lymphocytes to the steroidogenic apparatus in these organs. Autoantibodies toward 21-hydroxylase are a clinically useful marker for autoimmune Addison's disease. Autoantibodies to 21-hydroxylase are found in premature ovarian insufficiency, but others also can be present, notably antibodies against side-chain cleavage enzyme. The autoimmune response primarily targets the theca cells, yielding elevated concentrations of inhibin, which is emerging as a useful diagnostic marker for autoimmune etiology of ovarian insufficiency. Little is known about its immunogenetics, but in contrast to Addison's disease, several experimental models of autoimmune premature ovarian insufficiency are available for study.

Cure of Psoriasis and Arthritis when Addison's Disease Was Detected.

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Lind, Marcus

2010-06-01

INTRODUCTION: Corticoid therapy is well-known to improve the symptoms of psoriasis. Addison's disease is an autoimmune disease which leads to a loss of cortisol production in the adrenal glands. This case report describes a patient with wide-spread psoriasis for 34 years who was cured when Addison's disease was detected and substitution to reach normal biological cortisol levels was introduced. CASE REPORT: A 59-year-old man was diagnosed with Addison's disease. He had been tired for several years and had had difficulties in continuing his work. His brother had Addison's disease and recommended him to make a screen for the disease. Synacthen test diagnosed Addison's disease with a clear deficiency of cortisol production. After substitution with hydrocortisone the patient's constitution improved rapidly and he felt no longer tired during work. At the same time, all skin lesions of psoriasis disappeared as well as aches in several joints, both symptoms having been present for a couple of decades. Previously, salves of cortisol had been used to reduce the symptoms of psoriasis, but now, 1-2 years later, after the treatment of Addison's disease, no symptoms in the skin or joints have reoccurred. CONCLUSIONS: This report illustrates that Addison's disease, although a rare condition, should be kept in mind before treatment of psoriasis is started. Especially if other symptoms such as fatigue are present, a screening test of serum cortisol in the morning should be liberally made. The report also illustrates a need of examining corticoid levels in patients with psoriasis compared to the general population.

Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease.

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

2013-09-01

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.

Development of a disease-specific quality of life questionnaire in Addison's disease.

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

2010-02-01

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).

The neuropsychiatric aspect of Addison's disease: a case report.

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Abdel-Motleb, Mohamed

2012-10-01

Chronic adrenal insufficiency, known as Addison's disease, presents with a constellation of symptoms and signs. The neuropsychiatric aspect of this condition is not fully understood and not much has been documented about it in the English literature. This article presents a case of a 41-year old male patient who presented initially with depression after a recent life stressor. After his condition escalated and therapy continued to fail, the medical team revised its diagnosis to Addison's disease. Neuropsychiatric symptoms could be the first presentation of Addison's disease, and thus should be kept in mind whenever such a case presents to the physician.

Misdiagnosis of Addison's disease in a patient with end-stage renal disease.

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Kocyigit, Ismail; Unal, Aydin; Tanriverdi, Fatih; Hayri Sipahioglu, Murat; Tokgoz, Bulent; Oymak, Oktay; Utas, Cengiz

2011-01-01

Addison's disease is a rare disorder in patients with end-stage renal disease (ESRD). In patients, the diagnosis of Addison's disease is difficult in clinical practice because most of the clinical findings of this disease are similar to those of the renal failure. We present a 51-year-old male patient, who underwent hemodialysis therapy for 8 years, diagnosed with Addison's disease after having myalgia, skin hyperpigmentation, weight loss, sweating, and nausea for the past few weeks. The physical examination was completely normal except for muscle weakness, hyperpigmentation on labial mucosa and skin in a patient. The laboratory tests revealed anemia and hypoglycemia. Serum cortisol, adrenocorticotropic hormone (ACTH) levels, and ACTH stimulation test results were consistent with Addison's disease. Adrenal computerized tomography revealed bilateral atrophic glands. Additionally, it was found that elevated serum thyroid stimulating hormone levels and antithyroid peroxidase antibody titer were positive. Our purpose is to emphasize that physicians should be alert to the potential for additional different conditions particularly in terms of adrenal failure in patients with ESRD.

Autoimmune Addison's disease.

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Napier, Catherine; Pearce, Simon H S

2012-12-01

Addison's disease is a rare autoimmune disorder. In the developed world, autoimmune adrenalitis is the commonest cause of primary adrenal insufficiency, where the majority of patients have circulating antibodies against the key steroidogenic enzyme 21-hydroxylase. A complex interplay of genetic, immunological and environmental factors culminates in symptomatic adrenocortical insufficiency, with symptoms typically developing over months to years. Biochemical evaluation and further targeted investigations must confirm primary adrenal failure and establish the underlying aetiology. The diagnosis of adrenocortical insufficiency will necessitate lifelong glucocorticoid and mineralocorticoid replacement therapy, aiming to emulate physiological patterns of hormone secretion to achieve well-being and good quality of life. Education of patients and healthcare professionals is essential to minimise the risk of a life-threatening adrenal crisis, which must be promptly recognised and aggressively managed when it does occur. This article provides an overview of our current understanding of the natural history and underlying genetic and immunological basis of this condition. Future research may reveal novel therapeutic strategies for patient management. Until then, optimisation of pharmacological intervention and continued emphasis on education and empowerment of patients should underpin the management of individuals with autoimmune Addison's disease. Copyright © 2012. Published by Elsevier Masson SAS.

[Acute renal failure: a rare presentation of Addison's disease].

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Salhi, Houda

2016-01-01

Addison's disease is a rare condition. Its onset of symptoms most often is nonspecific contributing to a diagnostic and therapeutic delay. Acute renal failure can be the first manifestation of this disease. We report the case of a patient with Addison's disease who was initially treated for acute renal failure due to multiple myeloma and whose diagnosis was adjusted thereafter. Patient's condition dramatically improved after treatment with intravenous rehydration; injectable hydrocortisone.

Addison's disease and ACTH-producing pituitary microadenoma

Directory of Open Access Journals (Sweden)

S.S. Ortega

2015-10-01

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.

Computerised tomography in tuberculous Addison's disease

International Nuclear Information System (INIS)

Perry, M.C.; Eason, R.J.; Croxson, M.S.

1983-01-01

The important contribution computerised tomography played in the diagnosis of tuberculous Addison's disease is described. While conventional radiographic methods of demonstrating this disease are often unhelpful, C.T. is an excellent technique for demonstrating the morphology of normal and abnormal adrenal glands

Screening for Addison's disease in patients with type 1 diabetes mellitus and recurrent hypoglycaemia.

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Likhari, Taruna; Magzoub, Saeed; Griffiths, Melanie J; Buch, Harit N; Gama, R

2007-06-01

Addison's disease may present with recurrent hypoglycaemia in subjects with type 1 diabetes mellitus. There are no data, however, on the prevalence of Addison's disease presenting with recurrent hypoglycaemia in patients with diabetes mellitus. Three year retrospective study of diabetic patients with "unexplained" recurrent hypoglycaemia investigated with a short Synacthen test to exclude adrenocortical insufficiency. 95 patients with type 1 diabetes mellitus were studied. Addison's disease was identified as the cause of recurrent hypoglycaemia in one patient with type 1 diabetes mellitus. Addison's disease is a relatively rare but remedial cause of recurrent hypoglycaemia in patients with type 1 diabetes mellitus. A low threshold for investigating patients with type 1 diabetes mellitus and recurrent hypoglycaemia to detect Addison's disease is therefore suggested.

What is the optimal bone-preserving strategy for patients with Addison's disease?

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Lee, Paul; Greenfield, Jerry R

2015-08-01

Addison's disease is associated with low bone mineral density and increased risk of hip fractures. Causes are multifactorial, contributed by underlying adrenocortical hormonal deficiency, associated autoimmune endocrinopathies, electrolyte disturbances and, in some patients, supraphysiologic glucocorticoid replacement. Recent realization of physiologic cortisol production rate has revised downwards glucocorticoid replacement dosages. Meanwhile, new research has emerged suggesting complex interplay between sodium and calcium homoeostasis under the influence of mineralocorticoid and parathyroid hormone that may impact bone health. As the prevalence of Addison's disease is rising, and osteoporosis and fractures are associated with significant morbidity and increased mortality, attention to bone preservation in Addison's disease is of clinical relevance and importance. We suggest an approach to bone health in Addison's disease integrating physiologic adrenocortical hormonal replacement with electrolyte and mineral homoeostasis optimization. © 2015 John Wiley & Sons Ltd.

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.

Screening for Addison's disease in patients with type 1 diabetes mellitus and recurrent hypoglycaemia

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Likhari, Taruna; Magzoub, Saeed; Griffiths, Melanie J; Buch, Harit N

2007-01-01

Background Addison's disease may present with recurrent hypoglycaemia in subjects with type 1 diabetes mellitus. There are no data, however, on the prevalence of Addison's disease presenting with recurrent hypoglycaemia in patients with diabetes mellitus. Methods Three year retrospective study of diabetic patients with “unexplained” recurrent hypoglycaemia investigated with a short Synacthen test to exclude adrenocortical insufficiency. Results 95 patients with type 1 diabetes mellitus were studied. Addison's disease was identified as the cause of recurrent hypoglycaemia in one patient with type 1 diabetes mellitus. Conclusion Addison's disease is a relatively rare but remedial cause of recurrent hypoglycaemia in patients with type 1 diabetes mellitus. A low threshold for investigating patients with type 1 diabetes mellitus and recurrent hypoglycaemia to detect Addison's disease is therefore suggested. PMID:17551075

Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.

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Eriksson, D; Bianchi, M; Landegren, N; Nordin, J; Dalin, F; Mathioudaki, A; Eriksson, G N; Hultin-Rosenberg, L; Dahlqvist, J; Zetterqvist, H; Karlsson, Å; Hallgren, Å; Farias, F H G; Murén, E; Ahlgren, K M; Lobell, A; Andersson, G; Tandre, K; Dahlqvist, S R; Söderkvist, P; Rönnblom, L; Hulting, A-L; Wahlberg, J; Ekwall, O; Dahlqvist, P; Meadows, J R S; Bensing, S; Lindblad-Toh, K; Kämpe, O; Pielberg, G R

2016-12-01

Autoimmune disease is one of the leading causes of morbidity and mortality worldwide. In Addison's disease, the adrenal glands are targeted by destructive autoimmunity. Despite being the most common cause of primary adrenal failure, little is known about its aetiology. To understand the genetic background of Addison's disease, we utilized the extensively characterized patients of the Swedish Addison Registry. We developed an extended exome capture array comprising a selected set of 1853 genes and their potential regulatory elements, for the purpose of sequencing 479 patients with Addison's disease and 1394 controls. We identified BACH2 (rs62408233-A, OR = 2.01 (1.71-2.37), P = 1.66 × 10 -15 , MAF 0.46/0.29 in cases/controls) as a novel gene associated with Addison's disease development. We also confirmed the previously known associations with the HLA complex. Whilst BACH2 has been previously reported to associate with organ-specific autoimmune diseases co-inherited with Addison's disease, we have identified BACH2 as a major risk locus in Addison's disease, independent of concomitant autoimmune diseases. Our results may enable future research towards preventive disease treatment. © 2016 The Authors. Journal of Internal Medicine published by John Wiley & Sons Ltd on behalf of Association for Publication of The Journal of Internal Medicine.

[Addison's disease: forms of presentation in paediatrics].

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Royo Gómez, M; Olmos Jiménez, M J; Rodríguez Arnao, M D; Roldán Martín, M B

2013-06-01

Addison's disease or primary adrenal insufficiency is a rare disease in children. The signs and symptoms at diagnosis are frequently non-specific and insidious. Since adrenal crisis represents an emergency, it is important to be aware and to have a high degree of suspicion of the disorder in order to achieve an early diagnosis and treatment. We present a retrospective study describing the epidemiological, clinical and etiological data at diagnosis of five patients with Addison's disease followed up in our hospital. Dehydration, hyponatremia and skin hyperpigmentation were the most prevalent signs and symptoms at onset of the disease. The patients had low serum cortisol levels and positive adrenal antibodies. One patient with negative antibodies presented with a polyglandular syndrome. Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier España, S.L. All rights reserved.

Addison's disease as a presentation of metastatic malignant melanoma.

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Srinivasan, B; Patel, M; Ethunandan, M; Ilankovan, V

2016-01-01

Melanoma accounts for 5% of all skin cancers. The risk of metastasis is related to the thickness of the tumour, and can affect local, regional and distant sites. Adrenal metastasis from melanoma of the head and neck is uncommon and often asymptomatic. Addison's disease as a presentation of metastatic melanoma is extremely rare and we are unaware of previous reports in the world literature. We report a case of a patient with metastatic melanoma presenting with signs and symptoms of Addison's disease.

An unusual coexistence of Addison's disease and ...

African Journals Online (AJOL)

2013-07-17

Jul 17, 2013 ... Case Study: An unusual coexistence of Addison's disease and phaeochromocytoma. 164 ... strongly positive. ... Department of Endocrinology and Metabolism, Ondokuz Mayis University Medical School, Samsun, Turkey.

Episodic memory impairment in Addison's disease: results from a telephonic cognitive assessment.

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Henry, Michelle; Thomas, Kevin G F; Ross, Ian L

2014-06-01

Patients with Addison's disease frequently self-report memory and attention difficulties, even when on standard replacement therapy. However, few published studies examine, using objective measures and assessing across multiple domains, the cognitive functioning of Addison's disease patients relative to healthy controls. The primary aim of this study was to investigate whether the previously reported subjective cognitive deficits in Addison's disease are confirmed by objective measures. Conducting comprehensive neuropsychological assessments of patients with relatively rare clinical disorders, such as Addison's disease, is challenging because access to those patients is often limited, and because their medical condition might prevent extended testing sessions. Brief telephonic cognitive assessments are a useful tool in such circumstances. Hence, we administered the Brief Test of Adult Cognition by Telephone to 27 Addison's disease patients and 27 matched healthy controls. The instrument provides objective assessment of episodic memory, working memory, executive functioning, reasoning, and speed of processing. Statistical analyses confirmed that, as expected, patients performed significantly more poorly than controls on the episodic memory subtest. There were, however, no significant between-group differences on the attention, executive functioning, reasoning, and speed of processing subtests. Furthermore, patients with a longer duration of illness performed more poorly across all domains of cognition. We conclude that, for Addison's disease patients, previously reported subjective cognitive deficits are matched by objective impairment, but only in the domain of episodic memory. Future research might investigate (a) whether these memory deficits are material-specific (i.e., whether non-verbal memory is also affected), and (b) the neurobiological mechanisms underlying these deficits.

An Unusual Presentation of Addison's Disease-A Case Report.

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Choudhary, Sandeep; Alam, Anwer; Dewan, Vivek; Yadav, Dinesh; Dubey, N K

2011-07-01

Addison's disease is most commonly due to autoimmune adrenalitis and tuberculosis and refers to primary hypoadrenalism caused by a total or near total destruction or dysfunction of both adrenal cortices. Usual manifestations involve chronic fatigue, muscle weakness, loss of appetite, nausea, vomiting, diarrhea, hypotension and hyperpigmentation of skin. We herein report a case of primary adrenal insufficiency presenting with fever and seizures in an 11-yr-old boy. His symptoms resolved after starting specific therapy. This kind of presentation of Addison's disease is rather unusual.

Jane Austen and Addison's disease: an unconvincing diagnosis.

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White, K G

2009-12-01

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.

Addison's Disease Caused by Tuberculosis with Atypical Hyperpigmentation and Active Pulmonary Tuberculosis.

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Namikawa, Hiroki; Takemoto, Yasuhiko; Kainuma, Shigeto; Umeda, Sakurako; Makuuchi, Ayako; Fukumoto, Kazuo; Kobayashi, Masanori; Kinuhata, Shigeki; Isaka, Yoshihiro; Toyoda, Hiromitsu; Kamata, Noriko; Tochino, Yoshihiro; Hiura, Yoshikazu; Morimura, Mina; Shuto, Taichi

2017-01-01

We herein report a case of Addison's disease caused by tuberculosis characterized by atypical hyperpigmentation, noted as exacerbation of the pigmentation of freckles and the occurrence of new freckles, that was diagnosed in the presence of active pulmonary tuberculosis. The clinical condition of the patient was markedly ameliorated by the administration of hydrocortisone and anti-tuberculosis agents. When exacerbation of the pigmentation of the freckles and/or the occurrence of new freckles are noted, Addison's disease should be considered as part of the differential diagnosis. In addition, the presence of active tuberculosis needs to be assumed whenever we treat patients with Addison's disease caused by tuberculosis, despite its rarity.

Computed tomographic follow-up in a case of Addison's disease

International Nuclear Information System (INIS)

Pozzi Mucelli, R.S.; Pozzi Mucelli, F.; Muner, G.

1985-01-01

Addison's disease of the adrenal glands presents with different pathological findings depending on the stage. In the acute phase the adrenal glands are bilaterally enlarged while in the chronic phase the glands are small and calcified. A case of Addison's disease with follow-up over a period of a year by CT is reported. CT showed the evolution of the adrenal glands from bilateral masses to small calcified glands. The differential diagnostic problems in the acute phase are also discussed. (orig.)

Recurrent hypoglycaemia in type-1 diabetes mellitus may unravel the association with Addison's disease: a case report.

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Passanisi, Stefano; Timpanaro, Tiziana; Lo Presti, Donatella; Caruso-Nicoletti, Manuela

2014-09-12

Primary adrenocortical insufficiency or Addison's disease is caused by a progressive destruction of the adrenal cortex, resulting into a reduction of glucocorticoids, mineralocorticoids, and androgens. Autoimmune Addison's disease is the most common etiological form, accounting for about 80% of all cases. We describe the case of a 16-year-old Caucasian boy affected by type-1 diabetes mellitus and autoimmune thyroiditis, who experienced recurrent hypoglycaemia as presenting symptom of Addison's disease. Hypoglycaemia is not a common presenting feature of Addison's disease, both in patients with type-1 diabetes mellitus and in non-diabetic patients. However, hypoglycaemia may occur in association with primary and secondary glucocorticoid deficiency as a result of an enhanced insulin sensitivity. Hypoglycaemia is the most common acute complication of insulin therapy in patients with type-1 diabetes mellitus. Addison's disease has been described in approximately 0.5% of patients with type-1 diabetes mellitus, being more frequent in females and occurring in middle-aged patients. An association among type-1 diabetes mellitus, autoimmune thyroiditis, and Addison's disease is found in the "Schmidt's syndrome", a rare disorder that may occur in the paediatric age. Our case suggests that the presence of Addison's disease should be taken into consideration in patients with type-1 diabetes mellitus and frequent episodes of hypoglycaemia. We wish to highlight that there are no specific indications to screen for the association between Addison's disease and type-1 diabetes mellitus, although an early diagnosis of Addison's disease in diabetic patients would prevent the morbidity and potential mortality of this association.

Addison's disease presenting with muscle spasm.

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Bhattacharjee, Rana; Sharma, A; Rays, A; Thakur, I; Sarkar, D; Mandal, B; Mookerjee, S K; Chatterjee, S K; Chowdhury, Pradip Roy

2013-09-01

Primary hypoadrenalism has various causes and protean manifestation. We report a young female patient who presented with severe muscle spasm as her primary complaint. On evaluation she was found to be a case of Addison's disease secondary to adrenal tuberculosis. Her muscle spasm disappeared rapidly with replacement dose of glucocorticoid.

Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease

OpenAIRE

Eriksson, D.; Bianchi, Matteo; Landegren, Nils; Nordin, Jessika; Dalin, Frida; Mathioudaki, Argyri; Eriksson, G. N.; Hultin-Rosenberg, Lina; Dahlqvist, Johanna; Zetterqvist, H.; Karlsson, Andreas; Hallgren, Anna; Farias, F. H. G.; Murén, Eva; Ahlgren, Kerstin M.

2016-01-01

BackgroundAutoimmune disease is one of the leading causes of morbidity and mortality worldwide. In Addisons disease, the adrenal glands are targeted by destructive autoimmunity. Despite being the most common cause of primary adrenal failure, little is known about its aetiology. MethodsTo understand the genetic background of Addisons disease, we utilized the extensively characterized patients of the Swedish Addison Registry. We developed an extended exome capture array comprising a selected se...

Addison's Disease and Dilated Cardiomyopathy: A Case Report and Review of the Literature.

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Mozolevska, Viktoriya; Schwartz, Anna; Cheung, David; Shaikh, Bilal; Bhagirath, Kapil M; Jassal, Davinder S

2016-01-01

Addison's disease is often accompanied by a number of cardiovascular manifestations. We report the case of a 30-year-old man who presented with a new onset dilated cardiomyopathy due to Addison's disease. The clinical presentation, treatment, and outcomes of this rare hormone mediated cardiac disorder are reviewed.

Sarcoidosis Presenting Addison's Disease.

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Takahashi, Kentaro; Kagami, Shin-Ichiro; Kawashima, Hirotoshi; Kashiwakuma, Daisuke; Suzuki, Yoshio; Iwamoto, Itsuo

2016-01-01

We herein describe a second Japanese case of sarcoidosis presenting Addison's disease. A 52-year-old man was diagnosed with sarcoidosis based on clinical and laboratory findings, including bilateral hilar lymphadenopathy and elevated levels of serum angiotensin-converting enzyme and lysozyme, as well as the presence of noncaseating epithelioid granulomas. The patient also exhibited general fatigue, pigmentation, weight loss, hypotension and hyponatremia, suggestive of chronic adrenocortical insufficiency. An endocrine examination confirmed primary adrenocortical insufficiency. This case suggests the direct involvement of sarcoid granuloma in the adrenal glands.

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

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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

2016-09-01

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. The aim of this study was to investigate the quality of life in Dutch patients with Addison's disease particularly regarding the presence of fatigue and the ability to be physically active. In this cross-sectional study, a postal survey was performed among Dutch patients with Addison's disease on stable glucocorticoid replacement therapy with hydrocortisone or cortisone acetate. For quality of life and physical activity assessment, patients completed general and health-related quality of life and physical activity questionnaires, and scores were compared to Dutch controls. A total of 328 patients with Addison's disease were studied. In patients with Addison's disease, only 45·7% met the standard of physical activity (Combinorm) compared to 67·8% of Dutch controls (P < 0·01). Forty-eight per cent of patients showed abnormal fatigue, while 61% had severe fatigue. The CIS fatigue scores were significantly higher compared to controls (P < 0·01). We found reduced general subjective health-related QoL scores in both male and female patients, especially in younger patients <65 years of age. Physical activity is decreased in patients with Addison's disease, combined with a reduced subjective health-related QoL and increased fatigue. © 2016 John Wiley & Sons Ltd.

Recovery of adrenal function in a patient with confirmed Addison's disease.

Science.gov (United States)

Baxter, M; Gorick, S; Swords, F M

2013-01-01

Addison's disease is a condition characterised by immune-mediated destruction of the adrenal glands leading to a requirement of lifelong replacement therapy with mineralocorticoid and glucocorticoid. We present a case of a 53-year-old man who presented at the age of 37 years with nausea, fatigue and dizziness. He was found to have postural hypotension and buccal pigmentation. His presenting cortisol level was 43 nmol/l with no response to Synacthen testing. He made an excellent response to conventional replacement therapy with hydrocortisone and fludrocortisone and then remained well for 16 years. On registering with a new endocrinologist, his hydrocortisone dose was revised downwards and pre- and post-dose serum cortisol levels were assessed. His pre-dose cortisol was surprisingly elevated, and so his dose was further reduced. Subsequent Synacthen testing was normal and has remained so for further 12 months. He is now asymptomatic without glucocorticoid therapy, although he continues on fludrocortisone 50 μg daily. His adrenal antibodies are positive, although his ACTH and renin levels remain elevated after treatment. Addison's disease is generally deemed to lead to irreversible cell-mediated immune destruction of the adrenal glands. For this reason, patients receive detailed counselling and education on the need for lifelong replacement therapy. To our knowledge, this is the third reported case of spontaneous recovery of the adrenal axis in Addison's disease. Recovery may therefore be more common than previously appreciated, which may have major implications for the treatment and monitoring of this condition, and for the education given to patients at diagnosis. Partial recovery from Addison's disease is possible although uncommon.Patients with long-term endocrine conditions on replacement therapy still benefit from regular clinical and biochemical assessment, to revisit optimal management.As further reports of adrenal axis recovery emerge, this may

Normal overall mortality rate in Addison's disease, but young patients are at risk of premature death.

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Erichsen, Martina M; Løvås, Kristian; Fougner, Kristian J; Svartberg, Johan; Hauge, Erik R; Bollerslev, Jens; Berg, Jens P; Mella, Bjarne; Husebye, Eystein S

2009-02-01

Primary adrenal insufficiency (Addison's disease) is a rare autoimmune disease. Until recently, life expectancy in Addison's disease patients was considered normal. To determine the mortality rate in Addison's disease patients. i) Patients registered with Addison's disease in Norway during 1943-2005 were identified through search in hospital diagnosis registries. Scrutiny of the medical records provided diagnostic accuracy and age at diagnosis. ii) The patients who had died were identified from the National Directory of Residents. iii) Background mortality data were obtained from Statistics Norway, and standard mortality rate (SMR) calculated. iv) Death diagnoses were obtained from the Norwegian Death Cause Registry. Totally 811 patients with Addison's disease were identified, of whom 147 were deceased. Overall SMR was 1.15 (95% confidence intervals (CI) 0.96-1.35), similar in females (1.18 (0.92-1.44)) and males (1.10 (0.80-1.39)). Patients diagnosed before the age of 40 had significantly elevated SMR at 1.50 (95% CI 1.09-2.01), most pronounced in males (2.03 (1.19-2.86)). Acute adrenal failure was a major cause of death; infection and sudden death were more common than in the general population. The mean ages at death for females (75.7 years) and males (64.8 years) were 3.2 and 11.2 years less than the estimated life expectancy. Addison's disease is still a potentially lethal condition, with excess mortality in acute adrenal failure, infection, and sudden death in patients diagnosed at young age. Otherwise, the prognosis is excellent for patients with Addison's disease.

What affects the quality of life in autoimmune Addison's disease?

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Meyer, G; Hackemann, A; Penna-Martinez, M; Badenhoop, K

2013-02-01

Several studies have shown a reduced quality of life in patients with Addison's disease, but little is known about the potential influences. We determined the quality of life in 200 patients with Addison's disease using an Addison's disease-specific quality-of-life questionnaire. Data about first symptoms, time to diagnosis and current medication were collected by questionnaires. With increasing latency between first symptoms and diagnosis of adrenal insufficiency, the quality of life decreased in highly significant manner (pdisease (p=0.05), atrophic gastritis (p=0.01) and primary ovarian failure (p=0.01) were highly correlated with reduced scores. Quality of life was significantly lower in female patients and in those with manifestation at older ages. With more autoimmune comorbidities, the quality of life scores dropped. The most important factor, however, was latency between first symptoms and diagnosis that affected patients' quality of life even years after manifestation of the disease. These results confirm and extend previous observations and emphasize the importance of a timely diagnosis. Therefore, medical awareness for this rare but easily treatable disorder needs to be sharpened. © Georg Thieme Verlag KG Stuttgart · New York.

Multifocal oral melanoacanthoma associated with Addison's disease and hyperthyroidism: a case report.

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Dantas, Thinali Sousa; Nascimento, Isabelly Vidal do; Verde, Maria Elisa Quezado Lima; Alves, Ana Paula Negreiros Nunes; Sousa, Fabrício Bitu; Mota, Mário Rogério Lima

2017-01-01

Oral melanoacanthoma is a mucocutaneous, pigmented, rare, benign, and probably reactive lesion. This paper reports for the first time in the literature a case of multifocal oral melanoacanthoma in a patient diagnosed with Addison's disease and concomitant Graves' disease with hyperthyroidism. The patient presented with oral pigmented lesions, which were hypothesized to be mucosal pigmentation associated with Addison's disease. Due to their unusual clinical pattern, these oral lesions were biopsied and diagnosed as oral melanoacanthoma on histopathology and immunohistochemistry for HMB-45. At the moment of this report, the patient was being treated for her systemic conditions, but the lesions had not regressed. Reactive hyperpigmentation of the skin and mucous membranes may be found in Addison's disease and hyperthyroidism. This case reinforces the hypothesis of a reactive nature for oral melanoacanthoma and highlights the need for investigation of endocrine disorders in patients with multifocal oral melanoacanthoma.

Severe hyponatraemia with absence of hyperkalaemia in rapidly progressive Addison's disease.

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Thompson, Michael D; Kalmar, Eileen; Bowden, Sasigarn A

2015-05-28

We present a case of rapidly progressing Addison's disease in adrenal crisis with severe hyponatraemia and absence of hyperkalaemia in a 10-year-old girl. She presented with 2 weeks of vomiting, fatigue and weight loss. Her serum electrolytes obtained 1 week prior to presentation were normal, except for mild hyponatraemia at 131 mmol/L, which dropped to 112 mmol/L on admission. She had normal serum potassium, low-serum osmolality, with elevated urine sodium and osmolality, indistinguishable from syndrome of inappropriate antidiuretic hormone (SIADH). Subsequently, Addison's disease was diagnosed on the basis of gingival hyperpigmentation and undetectable cortisol on adrenocorticotropic hormone stimulation test. She rapidly responded to stress dose hydrocortisone, followed by hydrocortisone and fludrocortisone replacement therapy. The absence of hyperkalaemia in the presence of severe hyponatraemia cannot rule out Addison's disease in children. The mechanism of hypo-osmolar hyponatraemia in primary adrenal insufficiency and clinical clues to differentiate it from SIADH are discussed. 2015 BMJ Publishing Group Ltd.

From Appearance of Adrenal Autoantibodies to Clinical Symptoms of Addison's Disease: Natural History.

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

2016-01-01

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.

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

International Nuclear Information System (INIS)

Ma Ensen; Yang Zhigang; Li Yuan; Guo Yingkun; Deng Yuping; Zhang Xiaochun

2007-01-01

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 ΔCT 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

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

OpenAIRE

Heijmans, M.

1999-01-01

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 representations are directly associated with coping and, via coping, with adaptive outcome. Method: The illness representations held by 63 patients with a diagnosis of Addison's disease were explored using a q...

Recovery of adrenal function in a patient with confirmed Addison's disease

Science.gov (United States)

Baxter, M; Gorick, S; Swords, F M

2013-01-01

Summary Addison's disease is a condition characterised by immune-mediated destruction of the adrenal glands leading to a requirement of lifelong replacement therapy with mineralocorticoid and glucocorticoid. We present a case of a 53-year-old man who presented at the age of 37 years with nausea, fatigue and dizziness. He was found to have postural hypotension and buccal pigmentation. His presenting cortisol level was 43 nmol/l with no response to Synacthen testing. He made an excellent response to conventional replacement therapy with hydrocortisone and fludrocortisone and then remained well for 16 years. On registering with a new endocrinologist, his hydrocortisone dose was revised downwards and pre- and post-dose serum cortisol levels were assessed. His pre-dose cortisol was surprisingly elevated, and so his dose was further reduced. Subsequent Synacthen testing was normal and has remained so for further 12 months. He is now asymptomatic without glucocorticoid therapy, although he continues on fludrocortisone 50 μg daily. His adrenal antibodies are positive, although his ACTH and renin levels remain elevated after treatment. Addison's disease is generally deemed to lead to irreversible cell-mediated immune destruction of the adrenal glands. For this reason, patients receive detailed counselling and education on the need for lifelong replacement therapy. To our knowledge, this is the third reported case of spontaneous recovery of the adrenal axis in Addison's disease. Recovery may therefore be more common than previously appreciated, which may have major implications for the treatment and monitoring of this condition, and for the education given to patients at diagnosis. Learning points Partial recovery from Addison's disease is possible although uncommon.Patients with long-term endocrine conditions on replacement therapy still benefit from regular clinical and biochemical assessment, to revisit optimal management.As further reports of adrenal axis recovery

Apoptosis in subicular neurons: A comparison between suicide and Addison's disease

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Printha, K.; Hulathduwa, S. R.; Samarasinghe, K.; Suh, Y. H.; De Silva, K. R. D.

2009-01-01

Background: Stress and depression shows possible links to neuronal death in hippocampus. Subiculum plays a prominent role in limbic stress integration and direct effect of corticosteroids on subicular neurons needs to be defined to assess its subsequent impact on hippocampal plasticity. Aim: This study was intended to assess apoptosis in subicular neurons of a young depressed suicide victim, where presumably stress induced excess of corticosteroids and a case of young Addison's disease with low level of corticosteroids. Materials and Method: Both bilateral adrenal glands (Addison's) and subiculum (both cases) were initially stained with hematoxylin and eosin; subicular neurons of both cases were examined for the degree of apoptosis using ‘ApopTag Kit’. Apoptotic cell counts were expressed as average number of labeled cells/mm2 and the results were analysed statistically using a non-parametric Mann–Whitney U test. Result: Apoptotic neurons were detected in the subicular region of both suicide and Addison victims, and it is statistically significant in both right and left between the cases (P Addison disease where the number of neuronal cell death between right and left was statistically insignificant (P > 0.05). Conclusion: The present study confirms the vulnerability of the subicular neurons to apoptosis, possibly due to corticosteroids in both ends of spectrum. PMID:20048453

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

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.J.

2016-01-01

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

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.

2016-01-01

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

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

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Ross, Ian Louis; Levitt, Naomi S

2013-01-01

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. 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). Demographic and clinical data were elicited using questionnaires. Biochemical data were obtained from folder reviews and laboratory archived 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. 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.

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

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Rodrigo Antonio Brandão Neto

2012-01-01

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.

Adrenal steroidogenesis after B lymphocyte depletion therapy in new-onset Addison's disease.

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

2012-10-01

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. 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. 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. 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. 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. 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.

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

Directory of Open Access Journals (Sweden)

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.

Radioimmunoassay of gastrin level in duodenal ulcer, atrophic gostritis and Addison-Biermer's disease

International Nuclear Information System (INIS)

Hasik, J.; Kozal, H.; Kosowicz, J.; Hansz, J.

1975-01-01

Radioimmunoassay of gastrin level in the blood was performed in 20 controls, 12 patients with duodenal ulcer, 13 patients with atrophic gastritis and 14 patients with Addison-Biermer's disease. Gastrin level in the serum of the patients with duodenal ulcer did not differ significantly from that of controls. In atrophic gastritis and particularly in Addison-Biermer's disease gastrin level was found to be several times higher. This is probably a result of chronic gastrin secretion stimulation which is normally inhibited by gastric juice. (author)

First presentation of Addison's disease as hyperkalaemia in acute kidney injury.

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Maki, Sara; Kramarz, Caroline; Maria Heister, Paula; Pasha, Kamran

2016-05-11

Addison's disease is a rare endocrine disorder that frequently presents with non-specific symptoms, but may deteriorate rapidly into life-threatening Addisonian crisis if left untreated. Diagnosis can be difficult in patients without a suggestive medical history. We describe a case of a 37-year-old man who was admitted with acute kidney injury and hyperkalaemia, resistant to treatment with insulin/dextrose and calcium gluconate. On clinical examination, he was found to be hyperpigmented; a subsequent random serum cortisol of 49 nmol/L affirmed the preliminary diagnosis of Addison's disease. The patient's hyperkalaemia improved on treatment with hydrocortisone, and a follow-up morning adrenocorticotropic hormone of 1051 ng/L confirmed the diagnosis. 2016 BMJ Publishing Group Ltd.

Male and female hypogonadism are highly prevalent in South Africans with Addison's disease.

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Ross, I L; Levitt, N S; Blom, D J; Haarburger, D

2014-09-01

Hypogonadism may complicate Addison's disease (primary hypoadrenalism), but prevalence and metabolic sequelae of hypogonadism in Addison's disease are poorly described. We recruited patients from the South African Addison's disease national registry who received stable replacement doses of hydrocortisone and had no acute illness. Male biochemical testosterone deficiency was defined as an early morning basal testosterone10 or 12 IU/l). Testosterone deficiency did not correlate with age, disease duration or hydrocortisone dose. Untreated male hypogonadal subjects had a higher (mean ± standard deviation) BMI compared to eugonadal subjects 29.2 ± 4.9 kg/m(2) vs. 24.7 ± 3.4 kg/m(2) (p=0.01) and a higher median (interquartile range) high-sensitive-CRP 6.4 (2.5-14.0) mg/l vs. 1.45 (0.6-2.8) mg/l (p=0.002). There were no differences between the 2 groups in lipids, lipoproteins and fasting glucose. The median (interquartile range) DHEAS was lower in the hypogonadal 0.31 (0.27-0.37) μmol/l, compared with the eugonadal group 0.75 (0.50-1.51) μmol/l (p=0.005). POF was documented in 11% of female patients. Male testosterone deficiency was highly prevalent in this cohort and was primarily due to secondary hypogonadism. Only BMI and hs-CRP were increased in untreated male hypogonadal subjects. Male and female hypogonadism appears to be a common complication of Addison's disease and may contribute to its morbidity. © Georg Thieme Verlag KG Stuttgart · New York.

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

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Smans, Lisanne; Lentjes, Eef; Hermus, Ad; Zelissen, Pierre

2013-01-01

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. The aim of this study was to investigate the use of salivary cortisol day curves (SCDC) in the individual adjustment of GRT in order to approach normal cortisol levels as closely as possible, reduce over- and underreplacement and study the short-term effects on quality of life (QoL). Twenty patients with Addison's disease were included in this prospective study. A SCDC was obtained and compared to normal controls; general and disease specific QoL-questionnaires were completed. Based on SCDC assessment of over- and undertreatment (calculated as duration (h) × magnitude (nmol/L) at different time points, glucocorticoid dose and regime were adjusted. After 4 weeks SCDC and QoL assessment were repeated and the effect of adjusting GRT was analysed. At baseline, underreplacement was present in 3 and overreplacement in 18 patients; total calculated overreplacement was 32.8 h.nmol/L. Overreplacement decreased significantly to 13.3 h. nmol/L (p =0.005) after adjustment of GRT. Overreplacement was found particularly in the afternoon and evening. After reducing overreplacement in the evening, complaints about sleep disturbances significantly decreased. Individual adjustment of GRT based on SCDC to approach normal cortisol concentrations during the day can reduce overreplacement, especially in the evening. This can lead to a reduction of sleep disturbances and fatigue in patients with Addison's disease. A SCDC is a simple and patient-friendly tool for adjusting GRT and can be useful in the follow-up of patients with Addison's disease.

Primary Adrenal Insufficiency (Addison's Disease) Associated with Systemic Lupus Erythematosus: A Rare Occurrence.

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Godswill, Okwuonu Chimezie; Odigie, Ojeh-Oziegbe

2014-10-01

Coexistence of Addison's disease and systemic lupus erythematosus (SLE) is a rare occurrence with only few reported cases in the literature. We describe a 29-year-old woman who presented to us with clinical features of acute Addisonian crisis and SLE. Laboratory investigations were confirmatory of Addison's disease in a background of SLE. The patient made remarkable improvement on administration of steroids as replacement therapy for adrenal insufficiency and treatment of SLE. Clinicians need to have a high-index of suspicion of this possible coexistence in order to avoid the associated deleterious hemodynamic and metabolic consequences.

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

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Sahoo, Jaya Prakash; Selviambigapathy, Jayakumar; Kamalanathan, Sadishkumar; Nagarajan, K; Vivekanandan, Muthupillai

2016-01-01

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. 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. 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. 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.

Residual adrenal function in autoimmune Addison's disease: improvement after tetracosactide (ACTH1-24) treatment.

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Gan, Earn H; MacArthur, Katie; Mitchell, Anna L; Hughes, Beverly A; Perros, Petros; Ball, Stephen G; James, R Andrew; Quinton, Richard; Chen, Shu; Furmaniak, Jadwiga; Arlt, Wiebke; Pearce, Simon H S

2014-01-01

Despite lifelong steroid hormone replacement, there is excess morbidity and mortality associated with autoimmune Addison's disease. In health, adrenocortical cells undergo continuous self-renewal from a population of subcapsular progenitor cells, under the influence of ACTH, suggesting a therapeutic possibility. We aimed to determine whether tetracosactide (synthetic ACTH1-24) could revive adrenal steroidogenic function in autoimmune Addison's disease. Thirteen patients (aged 16-65 y) with established autoimmune Addison's disease for more than 1 year were recruited at the Newcastle University Clinical Research Facility. The intervention included a 20-week study of regular sc tetracosactide (ACTH1-24) therapy. Serum and urine corticosteroids were measured during medication withdrawal at baseline and every 5 weeks during the study. Serum cortisol levels remained less than 100 nmol/L in 11 of 13 participants throughout the study. However, two women achieved peak serum cortisol concentrations greater than 400 nmol/L after 10 and 29 weeks of tetracosactide therapy, respectively, allowing withdrawal of corticosteroid replacement. Concurrently, urine glucocorticoid and mineralocorticoid metabolite excretion increased from subnormal to above the median of healthy controls. One of these responders remains well with improving peak serum cortisol (672 nmol/L) 28 months after stopping all treatments. The other responder showed a gradual reduction in serum cortisol and aldosterone over time, and steroid therapy was recommenced after a 28-week period without glucocorticoid replacement. This is the first study to demonstrate that established autoimmune Addison's disease is amenable to a regenerative medicine therapy approach.

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

DEFF Research Database (Denmark)

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

2008-01-01

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...

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

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Sahoo, Jaya Prakash; Selviambigapathy, Jayakumar; Kamalanathan, Sadishkumar; Nagarajan, K.; Vivekanandan, Muthupillai

2016-01-01

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. PMID:27042409

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

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Kasperlik-Zaluska, Anna A.; Czarnocka, Barbara; Jeske, Wojciech; Papierska, Lucyna

2010-01-01

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. PMID:21188237

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

Directory of Open Access Journals (Sweden)

Anna A. Kasperlik-Zaluska

2010-01-01

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.

Management of hypertension and heart failure in patients with Addison's disease.

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

2015-06-01

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.

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

2001-08-01

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.

Hyperkalaemic periodic paralysis: a rare presentation of Addison's disease.

Science.gov (United States)

Sowden, J. M.; Borsey, D. Q.

1989-01-01

A 44 year old man with longstanding diabetes mellitus gave a 6-month history of periodic attacks of flaccid quadriplegia. Following one of these episodes he was admitted for assessment. In view of persistent hyperkalaemia, hypoadrenalism was suspected and Addison's disease was confirmed biochemically. Adrenal replacement therapy restored the potassium levels to normal and resulted in no further attacks of paralysis. PMID:2594601

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

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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

2018-02-01

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.

Addison's disease due to tuberculosis in a 13-year-old girl

International Nuclear Information System (INIS)

Jagannath, A.; Brill, P.W.; Winchester, P.

1986-01-01

A 13-year-old girl developed Addison's disease during antituberculous therapy for presumed tuberculous ventriculitis. CT of the abdomen showed diffusely enlarged hypodense adrenals and a hypodense lesion in the lower pole of the left kidney. Biopsy of the renal lesion revealed caseating and noncaseating granolomas. (orig.)

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

African Journals Online (AJOL)

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 hereby reported. The patient presented with hyperpigmentation of nipples, ...

Partial recovery of adrenal function in a patient with autoimmune Addison's disease.

Science.gov (United States)

Smans, L C C J; Zelissen, P M J

2008-07-01

To our knowledge, no case of remission in autoimmune Addison's disease has previously been reported. We describe a patient with primary adrenal insufficiency caused by autoimmune adrenalitis in whom partial remission was observed after 7 yr. A 39-yr-old male was referred because of extreme fatigue, weight loss, anorexia, nausea, and bouts of fever. During physical examination hyperpigmentation was seen. Laboratory tests showed a plasma cortisol of 0.02 micromol/l (08:30 h). Cortisol failed to increase during the ACTH stimulation test (0.02 to 0.03 micromol/l) and ACTH was markedly elevated (920 pmol/l). Adrenal auto-antibodies were weakly positive. A CT-scan showed no evidence of calcifications or other abnormalities of the adrenal glands. The diagnosis of autoimmune Addison's disease was made and replacement therapy with hydrocortisone and fludrocortisone was started. During the following years the dose of hydrocortisone was gradually decreased. Eventually, the patient decided to stop his medication completely. A repeated ACTH-stimulation test revealed a basal cortisol of 0.25 micromol/l and a peak cortisol of 0.30 micromol/l with a basal ACTH of 178 pmol/l. The patient did not have any complaints. Recovery of adrenal insufficiency, due to causes other than autoimmune adrenalitis, has been reported in the past. If our case of partial recovery of autoimmune adrenalitis is not unique this could have profound effects on treatment and follow-up of Addison's disease.

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.M.J.

2013-01-01

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.

Recurrent nocturnal hypoglycaemia as a cause of morning fatigue in treated Addison's disease--favourable response to dietary management: a case report.

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Petersen, Kristina S; Rushworth, R Louise; Clifton, Peter M; Torpy, David J

2015-10-24

Addison's disease, or primary adrenal insufficiency, is often associated with reduced well-being and fatigue despite use of currently recommended adrenal hormone replacement. Hypoglycaemia is a known manifestation of glucocorticoid deficiency, but is generally considered rare in adults and not relevant to troubling ongoing symptoms in patients with Addison's disease. A 43 year old woman with a three year history of Addison's disease complained of severe morning fatigue and headaches, despite standard glucocorticoid replacement therapy in the form of thrice daily hydrocortisone and mineralocorticoid replacement with fludrocortisone. Alternative glucocorticoid replacement regimens and the addition of dehydroepiandrosterone replacement therapy had no effect. Nocturnal hypoglycaemia was suspected and a 4-day continuous glucose monitor system (CGMS) revealed hypoglycaemia (interstitial glucose < 2.2 mmol/L) between 0200-0400 h on 3 of 4 days. The patient was counselled to take an evening snack designed to ensure slow absorption of ingested carbohydrates. Nocturnal hypoglycaemia was then absent on follow up CGMS assessment. The patient noted a marked symptomatic improvement in morning symptoms, but with persistent fatigue during the day. Currently, the best strategy for control of non-specific symptoms in treated Addison's disease is unknown, but it may be that investigation for hypoglycaemia and treatment, where necessary, could assist some sufferers to achieve improved wellbeing. A systematic study of this phenomenon in Addison's disease is required.

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

NARCIS (Netherlands)

Heijmans, M.

1999-01-01

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

Addison's Disease and Pituitary Enlargement.

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Winters, Stephen J; Vitaz, Todd; Nowacki, Michael R; Craddock, Durrett C; Silverman, Craig

2015-06-01

A 60-year-old man with Addison's disease, primary hypothyroidism and type 2 diabetes mellitus who was treated with stable doses of hydrocortisone and fludrocortisone developed increasing skin pigmentation and a bitemporal hemianopia. The plasma ACTH level was 14,464 pg/mL, and an invasive pituitary macroadenoma with suprasellar extension was found on magnetic resonance imaging leading to transnasal-transsphenoidal adenomectomy. The tumor demonstrated features of an eosinophilic adenoma and stained uniformly for ACTH. Residual tumor was treated with stereotactic radiotherapy. This case and the 13 cases published previously indicate that primary adrenal failure may predispose to corticotroph hyperplasia, and in some patients to the development of an invasive corticotroph adenoma. The ACTH level should be measured, and a pituitary magnetic resonance imaging is indicated when skin pigmentation increases in a patient with primary adrenal failure who is receiving customary treatment with glucocorticoids and mineralocorticoids.

Autoimmune Addison's disease - An update on pathogenesis.

Science.gov (United States)

Hellesen, Alexander; Bratland, Eirik; Husebye, Eystein S

2018-06-01

Autoimmunity against the adrenal cortex is the leading cause of Addison's disease in industrialized countries, with prevalence estimates ranging from 93-220 per million in Europe. The immune-mediated attack on adrenocortical cells cripples their ability to synthesize vital steroid hormones and necessitates life-long hormone replacement therapy. The autoimmune disease etiology is multifactorial involving variants in immune genes and environmental factors. Recently, we have come to appreciate that the adrenocortical cell itself is an active player in the autoimmune process. Here we summarize the complex interplay between the immune system and the adrenal cortex and highlight unanswered questions and gaps in our current understanding of the disease. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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

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Moore Peter

2010-02-01

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.

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

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Skedros, John G; Kiser, Casey J; Mendenhall, Shaun D

2011-01-01

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.

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

Directory of Open Access Journals (Sweden)

John G. Skedros

2011-01-01

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.

Diagnosis and classification of Addison's disease (autoimmune adrenalitis).

Science.gov (United States)

Brandão Neto, Rodrigo Antonio; de Carvalho, Jozélio Freire

2014-01-01

Autoimmune adrenalitis, or autoimmune Addison disease (AAD), is the most prevalent cause of primary adrenal insufficiency in the developed world. AAD is rare and can easily be misdiagnosed as other conditions. The diagnosis depends on demonstrating inappropriately low cortisol production and the presence of high titers of adrenal cortex autoantibodies (ACAs), along with excluding other causes of adrenal failure using other tests as necessary. The treatment corticosteroid replacement, and the prognosis following the treatment is the same as the normal population. Spontaneous recovery of adrenal function has been described but is rare. Copyright © 2014 Elsevier B.V. All rights reserved.

Addison disease in patients treated with glucocorticoid therapy.

LENUS (Irish Health Repository)

Cronin, C C

2012-02-03

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.

Salivary cortisol day curves in Addison's disease in patients on hydrocortisone replacement.

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

2013-01-01

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.

High frequency of cytolytic 21-hydroxylase-specific CD8+ T cells in autoimmune Addison's disease patients.

Science.gov (United States)

Dawoodji, Amina; Chen, Ji-Li; Shepherd, Dawn; Dalin, Frida; Tarlton, Andrea; Alimohammadi, Mohammad; Penna-Martinez, Marissa; Meyer, Gesine; Mitchell, Anna L; Gan, Earn H; Bratland, Eirik; Bensing, Sophie; Husebye, Eystein S; Pearce, Simon H; Badenhoop, Klaus; Kämpe, Olle; Cerundolo, Vincenzo

2014-09-01

The mechanisms behind destruction of the adrenal glands in autoimmune Addison's disease remain unclear. Autoantibodies against steroid 21-hydroxylase, an intracellular key enzyme of the adrenal cortex, are found in >90% of patients, but these autoantibodies are not thought to mediate the disease. In this article, we demonstrate highly frequent 21-hydroxylase-specific T cells detectable in 20 patients with Addison's disease. Using overlapping 18-aa peptides spanning the full length of 21-hydroxylase, we identified immunodominant CD8(+) and CD4(+) T cell responses in a large proportion of Addison's patients both ex vivo and after in vitro culture of PBLs ≤20 y after diagnosis. In a large proportion of patients, CD8(+) and CD4(+) 21-hydroxylase-specific T cells were very abundant and detectable in ex vivo assays. HLA class I tetramer-guided isolation of 21-hydroxylase-specific CD8(+) T cells showed their ability to lyse 21-hydroxylase-positive target cells, consistent with a potential mechanism for disease pathogenesis. These data indicate that strong CTL responses to 21-hydroxylase often occur in vivo, and that reactive CTLs have substantial proliferative and cytolytic potential. These results have implications for earlier diagnosis of adrenal failure and ultimately a potential target for therapeutic intervention and induction of immunity against adrenal cortex cancer. Copyright © 2014 by The American Association of Immunologists, Inc.

Nocturnal hypoglycemia identified by a continuous glucose monitoring system in patients with primary adrenal insufficiency (Addison's Disease).

Science.gov (United States)

Meyer, Gesine; Hackemann, Annika; Reusch, Juergen; Badenhoop, Klaus

2012-05-01

Hypoglycemia can be a symptom in patients with Addison's disease. The common regimen of replacement therapy with oral glucocorticoids results in unphysiological low cortisol levels in the early morning, the time of highest insulin sensitivity. Therefore patients with Addison's disease are at risk for unrecognized and potentially severe nocturnal hypoglycemia also because of a disturbed counterregulatory function. Use of a continuous glucose monitoring system (CGMS) could help to adjust hydrocortisone treatment and to avoid nocturnal hypoglycemia in these patients. Thirteen patients with Addison's disease were screened for hypoglycemia wearing a CGMS for 3-5 days. In one patient we identified a hypoglycemic episode at 3:45 a.m. with a blood glucose level of 46 mg/dL, clearly beneath the 95% tolerance interval of minimal glucose levels between 2 and 4 a.m. (53.84 mg/dL). After the hydrocortisone replacement scheme was changed, the minimum blood glucose level between 2 and 4 a.m. normalized to 87 mg/dL. Continuous glucose monitoring can detect nocturnal hypoglycemia in patients with primary adrenal insufficiency and hence prevent in these patients an impaired quality of life and even serious adverse effects.

Addison's disease due to bilateral post-traumatic adrenal haemorrhage: CT and MR findings

International Nuclear Information System (INIS)

Wilms, G.; Tits, J.; Vanstraelen, D.; Marchal, G.; Rigauts, H.; Baert, A.L.

1991-01-01

In a patient with Addison's disease, who gave a history of a severe car accident, CT showed bilateral enlargement of the adrenal glands. MRI, by demonstrating paramagnetic T1 shortening due to methaemoglobin and haemosiderin on T2-weighted images, confirmed the haemorrhagic nature of the lesions. (orig.)

Primary anti-phospholipid antibody syndrome causing recurrent venous thrombosis and thrombocytopenia in a patient with Addison's disease.

Science.gov (United States)

Elebrashy, Ibrahim; Yousief, Elham; Saif, Aasem

2014-12-01

We report a case of Addison's disease presenting with recurrent deep venous thrombosis and thrombocytopenia and proved to have primary anti-phospholipid antibody syndrome. The case report highlights the shared autoimmune nature of both diseases.

Addison's disease with adrenal enlargement on sonography and computed toimography

International Nuclear Information System (INIS)

Renner, F.; Graninger, W.

1986-01-01

One of the major causes of chronic adrenal insufficiency (Addison's disease) is tuberculous adrenalopathy. Since sonography and computed tomography have become generally available in recent years and are of potential help in the diagnosis of this disease the merits of these methods are discussed in the light of 2 cases of adrenal tuberculosis, followed by a review of the literature. Adrenal calcification is the most significant, although not specific sign of adrenal insufficiency due to tuberculosis. Computed tomography has proven to be the method of choice in the non-invasive diagnosis of tuberculous adrenalopathy and in the monitoring of tuberculostatic treatment in this disease. Sonography is helpful as a preliminary investigation. (Author)

Immunoglobulins of patients with idiopathic Addison's disease block the in vitro action of adrenocorticotropin

NARCIS (Netherlands)

Wulffraat, N. M.; Drexhage, H. A.; Bottazzo, G. F.; Wiersinga, W. M.; Jeucken, P.; van der Gaag, R.

1989-01-01

The presence of serum immunoglobulins (Ig) blocking ACTH-induced adrenal DNA synthesis and/or cortisol production was studied in 25 patients with idiopathic Addison's disease. For this purpose guinea pig adrenal segments kept in organ culture were exposed to ACTH and graded concentrations of patient

The acute effect of a mineralocorticoid receptor agonist on corticotrope secretion in Addison's disease.

Science.gov (United States)

Berardelli, R; Karamouzis, I; D'Angelo, V; Fussotto, B; Minetto, M A; Ghigo, E; Giordano, R; Arvat, E

2016-05-01

Mineralocorticoid receptors (MR) in the hippocampus display an important role in the control of hypothalamic-pituitary-adrenal (HPA) axis, mediating the ''proactive'' feedback of glucocorticoids (GC). Fludrocortisone (FC), a potent MR agonist, has been shown to decrease HPA activity through a hippocampal mechanism. Since it has been demonstrated that FC shows a significant inhibition of the HPA axis response to hCRH stimulus in normal subjects, also at doses usually administered as replacement therapy in patients with Addison's disease, an FC effect at MRs in human pituitary or a GR-pituitary agonism stronger than believed until now has been postulated. Ten patients affected by autoimmune Addison's disease received: (1) placebo p.o. + placebo i.v., (2) hydrocortisone (H) 10 mg p.o. + placebo i.v., (3) FC 0.1 mg p.o. + placebo i.v., (4) FC 0.1 mg and H 10 mg p.o. + placebo i.v. to verify a possible GR FC-mediated effect that might display a repercussion on the GC-replacement therapy. H reduced ACTH (p < 0.01) and increased cortisol levels (p < 0.01) with respect to the placebo session, while FC did not affect either ACTH or cortisol levels compared to placebo, and higher ACTH and lower cortisol levels (p < 0.03 and p < 0.01) were observed compared with the H session; furthermore the co-administration of FC + H showed ACTH and cortisol profiles similar to that observed during H alone. Our study showed a lack of FC effect on corticotrope secretion in Addison's disease, thus making unlikely the hypothesis of its GR pituitary agonism and the risk of glucocorticoid excess in primary adrenal insufficiency.

Vitamin D effects on monocytes' CCL-2, IL6 and CD14 transcription in Addison's disease and HLA susceptibility.

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Kraus, A U; Penna-Martinez, M; Meyer, G; Badenhoop, K

2018-03-01

Addison's disease is a rare autoimmune disorder leading to adrenal insufficiency and life-long glucocorticoid dependency. Vitamin D receptor (VDR) polymorphisms and vitamin D deficiency predispose to Addison's disease. Aim of the current study was, to investigate potential anti-inflammatory vitamin D effects on monocytes in Addison's disease, focusing on inflammatory CCL-2 and IL6, as well on monocyte CD14 markers. Addison's disease is genetically linked to distinct HLA susceptibility alleles. Therefore we analyzed, whether HLA genotypes differed for vitamin D effects on monocyte markers. CD14 + monocytes were isolated from Addison's disease patients (AD, n=13) and healthy controls (HC, n=15) and stimulated with 1,25-dihydroxyvitamin D 3 and IL1β as an inflammatory stimulant. Cells were processed for mRNA expression of CCL-2, IL6 and CD14 and DNA samples were genotyped for major histocompatibility class (MHC) class II-encoded HLA- DQA1-DQB1 haplotypes. We found a downregulation of CCL-2 after vitamin D treatment in IL1β-stimulated monocytes both from AD patients and HC (AD p<0.001; HC p<0.0001). CD14 expression however, was upregulated in both HC and AD patients after vitamin D treatment (p<0.001, respectively). HC showed higher CD14 transcription level than AD patients after vitamin D treatment (p=0.04). Compared to IL1β-induced inflammation, HC have increased CD14 levels after vitamin D treatment (p<0.001), whereas the IL1β-induced CD14 expression of AD patients' monocytes did not change after vitamin D treatment (p=0.8). AD patients carrying HLA high-risk haplotypes showed an increased CCL-2 expression after IL1β-induced inflammation compared to intermediate-risk HLA carriers (p=0.05). Also HC monocytes' CD14 transcription after IL1β and vitamin D co-stimulation differed according to HLA risk profile. We show that vitamin D can exert anti-inflammatory effects on AD patients' monocytes which may be modulated by HLA risk genotypes. Copyright © 2017 Elsevier

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

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R.C. Silva

1998-09-01

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.

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

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Lazare, Kimberly

2017-01-01

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 the first published case of undiagnosed Addison's disease presenting as an eating disorder, with cannabis use likely contributing to symptoms. This case elucidates the importance of ruling out other biologic and psychologic causes of clinical presentations before an eating disorder diagnosis can be made.

No Difference in Mood and Quality of Life in DHEA-S Deficient Adults with Addison's Disease vs. Type 2 Diabetes Patients with Normal DHEA-S Levels: Implications for Management of These Conditions.

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Heald, Adrian H; Walther, Andreas; Davis, Julian R E; Moreno, Gabriela Y C; Kane, John; Livingston, Mark; Fowler, Helen L

2017-01-01

Patients with Addison's disease have relatively high rates of depression and anxiety symptoms compared with population-based reference samples. Addison's disease results in deficiency of dehydroepiandrosterone (DHEA) and DHEA-sulfate (DHEA-S). There is considerable debate about the specific effects of DHEA deficiency on energy level and mood. We measured emotional well-being in 16 patients with Addison's disease and a group of 16 hospital attendees with type 2 diabetes. Participants completed the General Health Questionnaire-28 (GHQ-28), the Hospital Anxiety and Depression Scale (HADS), the World Health Organization's quality of life assessment (WHOQOL-BREF) and the Holmes-Rahe life event scale. DHEA-S was low in Addison's patients (Addison's men: 0.5 ± 0.1 μmol/l [normal range: 2.1-10.8] compared with diabetes men: 3.2 ± 1.2 μmol/l; Addison's women: 0.4 ± 0.01 μmol/l [normal range: 1.0-11.5] compared with diabetes women: 2.2 ± 0.71 μmol/l). Testosterone levels were similar in both groups studied. There were no differences in emotional well-being and quality of life (QOL) between patients with Addison's disease and Type 2 Diabetes Mellitus as measured by GHQ-28 (Addison's: 22.4 ± 2.6, Diabetes: 19.6 ± 2.7), HADS Depression (Addison's: 5.4 ± 0.9, Diabetes: 4.5 ± 1.4), HADS Anxiety and WHOQOL-BREF. There were no gender differences in affective symptomatology within the Addison's group. Life event scores were above average in both groups (Addison's: 195 ± 39.6, Diabetes: 131 ± 43.8), but not significant for difference between groups as was GHQ-28 total score. Both groups scored highly on the GHQ-28 and the life event scale, indicative of poorer health perceptions than the general population. This could be due to the chronicity of both disorders. We have not identified any specific effects of DHEA-S deficiency on mood or QOL.

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

International Nuclear Information System (INIS)

Guo Yingkun; Yang Zhigang; Li Yuan; Ma Ensen; Deng Yuping; Min Pengqiu; Yin Longlin; Hu Jian; Zhang Xiaochun; Chen Tianwu

2007-01-01

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

Addison's disease due to Histoplasma duboisii infection of the adrenal glands

International Nuclear Information System (INIS)

Mudawi, Hatim M.; Baraka, Omer Z.; El-Hassan, Ahmed M.; El-Amin, Elwaleed M.

2008-01-01

Histoplasmosis is a fungal infection caused by Histoplasma capsulatum. In the normal individual, both disseminated histoplasmosis and symptomatic adrenal histoplasmosis are rare. Herein, we describe the case of a 50-year-old gentleman residing in western Sudan who presented with 7-month history of generalized body weakness, easy fatigue and frequent attacks of vomiting and diarrhea. Physical examination and laboratory investigations confirmed the diagnosis of Addison's disease due to histoplasma capsulatum var duboisii infection of the adrenal glands. He was treated with intravenous hydrocortisone, followed by oral prednisolone and itraconazole. (author)

A case of Addison's disease accompanied with bilateral adrenal calcification on CT

International Nuclear Information System (INIS)

Lee, Li-Chik; Fujita, Naohisa; Ohba, Yachiyo

1985-01-01

A 62-year-old woman was admitted to our hospital with complaints of general malaise and hyperpigmentation. We diagnosed her case as primary adrenocortical insufficiency (Addison's disease) by endocrinological studies. CT demonstrated dense calcification in both adrenal beds without evidence of normal glandular remnants. Calcified adrenal is not specific to tuberculosis, but some points of CT findings are useful for pathogenetic approach. Recently, there have been several reports that ACTH producing pituitary tumors develop in patients treated with conventional corticosteroid replacement. Corticosteroid should be administered by monitoring of plasma cortisol and ACTH concentrations. (author)

Value of the radioimmunological ACTH-determination in plasma for the diagnosis and therapy control of Addison's disease

International Nuclear Information System (INIS)

Wagner, H.; Degenhardt, G.; Wenning, N.

1974-01-01

The findings obtained before suggest that plasma ACTH determination is another valuable parameter supplementing the determination of plasma corticoids in the diagnosis of Addison's disease. In the assessment of the success of the treatment, plasma ACTH measurement is superior to the determination of plasma corticoids. (orig./AK) [de

Delayed diagnosis of Addison's disease: an approach to management.

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Mascarenhas, Janice V; Jude, Edward B

2014-07-18

Addison's disease accounts for the majority of cases of adrenal failure that are detected during hospital admissions. Unfortunately, prompt diagnosis of this condition is often delayed due to varied atypical manifestations and inadequate assessment at the time of presentation. We report a case of a 52-year-old woman who was detected to have hypotension during routine colonoscopy for evaluation of anaemia and progressive weight loss. During admission for evaluation of hypotension, she was also detected to have hyponatremia. Hyponatremia and hypotension failed to improve despite fluid resuscitation. Our endocrinological opinion was sought for and on further evaluation she was diagnosed with primary adrenal insufficiency. Glucocorticoid and mineralocorticoid replacement therapy were eventually instituted, which was followed by restoration of blood pressure and normalisation of serum sodium levels. 2014 BMJ Publishing Group Ltd.

Metachronous adrenal metastasis from operated contralateral renal cell carcinoma with adrenalectomy and iatrogenic Addison's disease.

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Ozturk, Hakan; Karaaslan, Serap

2014-09-01

Metachronous adrenal metastasis from contralateral renal cell carcinoma (RCC) surgery is an extremely rare condition. Iatrogenic Addison's disease occurring after metastasectomy (adrenalectomy) is an even rarer clinical entity. We present a case of a 68-year-old male with hematuria and left flank pain 9 years prior. The patient underwent left transperitoneal radical nephrectomy involving the ipsilateral adrenal glands due to a centrally-located, 75-mm in diameter solid mass lesion in the upper pole of the left kidney. The tumour lesion was confined within the renal capsule, and the histo-pathological examination revealed a Fuhrman nuclear grade II clear cell carcinoma. The patient underwent transperitoneal right adrenalectomy. The histopathological examination revealed metastasis of clear cell carcinoma. The patient was diagnosed with iatrogenic Addison's disease based on the measurement of serum cortisol levels and the adrenocorticotropic hormone (ACTH) stimulation test, after which glucocorticoid and mineralocorticoid replacement was initiated. The patient did not have local recurrence or new metastasis in the first year of the follow-up. The decision to perform ipsilateral adrenalectomy during radical nephrectomy constitutes a challenge, and the operating surgeon must consider all these rare factors.

Unusual Onset of Celiac Disease and Addison's Disease in a 12-Year-Old Boy.

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Miconi, Francesco; Savarese, Emanuela; Miconi, Giovanni; Cabiati, Gabriele; Rapaccini, Valentina; Principi, Nicola; Esposito, Susanna

2017-07-29

Celiac disease (CD) is an autoimmune disorder deriving from an aberrant adaptive immune response against gluten-containing grains in genetically predisposed subjects. In a number of patients, CD is associated with one or more other autoimmune diseases. Primary Addison's disease (AD) and CD may co-exist, although this association is relatively uncommon in children. In addition, it is not precisely defined whether a gluten-free diet influences the course of AD. A case of CD in a 12-year-old boy presenting as acute adrenal insufficiency is described here. A gluten-free diet had a significant therapeutic role in this case, wherein most of the clinical signs and symptoms of AD disappeared in a few days. In addition, the dosage of cortisol acetate, initially administered to treat the AD, was able to be rapidly reduced. This case highlights that CD can be associated with AD in children, and a gluten-free diet seems to positively influence the course of AD.

BClI polymorphism of the glucocorticoid receptor gene is associated with increased obesity, impaired glucose metabolism and dyslipidaemia in patients with Addison's disease.

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Giordano, Roberta; Marzotti, Stefania; Berardelli, Rita; Karamouzis, Ioannis; Brozzetti, Annalisa; D'Angelo, Valentina; Mengozzi, Giulio; Mandrile, Giorgia; Giachino, Daniela; Migliaretti, Giuseppe; Bini, Vittorio; Falorni, Alberto; Ghigo, Ezio; Arvat, Emanuela

2012-12-01

Although glucocorticoids are essential for health, several studies have shown that glucocorticoids replacement in Addison's disease might be involved in anthropometric and metabolic impairment, with increased cardiovascular risk, namely if conventional doses are used. As the effects of glucocorticoids are mediated by the glucocorticoid receptor, encoded by NR3C1 gene, different polymorphisms in the NR3C1 gene have been linked to altered glucocorticoid sensitivity in general population as well as in patients with obesity or metabolic syndrome. We investigated the impact of glucocorticoid receptor gene polymorphisms, including the BclI, N363S and ER22/23EK variants, on anthropometric parameters (BMI and waist circumference), metabolic profile (HOMA, OGTT and serum lipids) and ACTH levels in 50 patients with Addison's disease (34 women and 16 men, age 20-82 year) under glucocorticoids replacement. Neither N363S nor ER22/23EK variants were significantly associated with anthropometric, metabolic or hormonal parameters, while patients carrying the homozygous BclI polymorphism GG (n = 4) showed higher (P Addison's disease and may contribute, along with other factors, to the increase in central adiposity, impaired glucose metabolism and dyslipidaemia. © 2012 Blackwell Publishing Ltd.

Adult cerebral adrenoleukodystrophy and Addison's disease in a female carrier.

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

2014-07-10

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.

MANAGEMENT OF ENDOCRINE DISEASE: Regenerative therapies in autoimmune Addison's disease.

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Gan, Earn H; Pearce, Simon H

2017-03-01

The treatment for autoimmune Addison's disease (AAD) has remained virtually unchanged in the last 60 years. Most patients have symptoms that are relatively well controlled with exogenous steroid replacement, but there may be persistent symptoms, recurrent adrenal crisis and poor quality of life, despite good compliance with optimal current treatments. Treatment with conventional exogenous steroid therapy is also associated with premature mortality, increased cardiovascular risk and complications related to excessive steroid replacement. Hence, novel therapeutic approaches have emerged in the last decade attempting to improve the long-term outcome and quality of life of patients with AAD. This review discusses the recent developments in treatment innovations for AAD, including the novel exogenous steroid formulations with the intention of mimicking the physiological biorhythm of cortisol secretion. Our group has also carried out a few studies attempting to restore endogenous glucocorticoid production via immunomodulatory and regenerative medicine approaches. The recent advances in the understanding of adrenocortical stem cell biology, and adrenal plasticity will also be discussed to help comprehend the science behind the therapeutic approaches adopted. © 2017 European Society of Endocrinology.

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

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

2016-01-01

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.

Pulsatile luteinizing hormone secretion in patients with Addison's disease. Impact of glucocorticoid substitution

DEFF Research Database (Denmark)

Hangaard, J; Andersen, M; Grodum, E

1998-01-01

The physiological and pathophysiological role of cortisol in pulsatile LH release was investigated in 14 patients (5 men, 6 premenopausal women, and 3 postmenopausal women) with Addison's disease. The explicit effect of cortisol in relation to the effect of corticotropin-releasing factor (CRF......), ACTH, and opioids was ensured by hypo-, normo-, and hypercortisolism. Hypocortisolism was obtained by 24-h discontinuation of hydrocortisone (HC) followed by 23-h saline infusion. Eucortisolism was secured by infusion of HC (0.5 mg/kg) over 23 h. Stress-appropriate hypercortisolism was obtained...

Addison's disease concomitant with corticotropin deficiency and pituitary CRH resistance - a case report.

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Lewandowski, Krzysztof C; Malicka, Katarzyna; Dąbrowska, Katarzyna; Lewiński, Andrzej

2017-01-01

A 36-year-old woman was found to have a low morning ACTH concentration despite a history of Addison's disease. Past medical history: At the age of 23 years the subject developed Graves's disease, which was treated with radioiodine. At about the same time, she claimed to have two episodes of pancreatitis treated with cholecystectomy. About seven months later she was euthyroid on L-thyroxine (TSH 1.51 mIU/mL) but was admitted with hypotension, hyponatraemia (sodium 109 mmol/L), and low morning cortisol (119 nmol/L). Further investigations confirmed primary adrenal failure with ACTH concentration of 779 pg/mL (ref. range 0-60) prior to the dose of hydrocortisone. About nine years later she complained about tiredness. Clinically she was normotensive and not pigmented. BMI 22.3 kg/m². Periods were regular. ACTH concentration was surprisingly low (ACTH 8.53 pg/mL, ref. range 0-46), despite very low cortisol (3.37 nmol/L). She was admitted for further assessment. Pituitary MRI scan was unremarkable. An insulin tolerance test was performed and showed a clear increase of ACTH (from 15.2 to 165 pg/mL). There was, however, hardly any increase of ACTH after CRH stimulation (from 6.05 pg/mL to 10.2 pg/mL), thus demonstrating central CRH resistance. In summary, this patient developed secondary adrenal failure in the setting of previous Addison's disease. Interestingly, hypoglycaemia (but not CRH) provided a stimulus for ACTH release, thus demonstrating CRH resistance. The case confirms that besides CRH, other factors are responsible for stimulation of the ACTH-cortisol axis during insulin tolerance test.

A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's disease.

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Jyothi, K S; George, Cyriac; Shaji, K S

2016-01-01

Adrenoleukodystrophy (ALD) is an X-linked disorder with diverse clinical presentations. A 30-year-old male, previously diagnosed with Addison's disease, on steroid supplementation for 18 years, presented to us with manic symptoms for 4 years. He was found to have white matter hypodensities in computed tomography head and had white matter signal changes in magnetic resonance imaging, and therefore a diagnosis of ALD was made.

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

Directory of Open Access Journals (Sweden)

Kevin Messacar

2014-01-01

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.

Altered DNA methylation profile in Norwegian patients with Autoimmune Addison's Disease.

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Bjanesoy, Trine E; Andreassen, Bettina Kulle; Bratland, Eirik; Reiner, Andrew; Islam, Shahinul; Husebye, Eystein S; Bakke, Marit

2014-06-01

Autoimmune Addison's Disease (AAD) is an endocrine and immunological disease of uncertain pathogenesis resulting from the immune system's destruction of the hormone producing cells of the adrenal cortex. The underlying molecular mechanisms are largely unknown, but it is commonly accepted that a combination of genetic susceptibility and environmental impact is critical. In the present study, we identified multiple hypomethylated gene promoter regions in patients with isolated AAD using DNA isolated from CD4+ T cells. The identified differentially methylated regions were distributed evenly across the 10.5-kb-promoter regions covered by the array, and a substantial number localized to promoters of genes involved in immune regulation and autoimmunity. This study reveals a hypomethylated status in CD4+ T cells from AAD patients and indicates differential methylation of promoters of key genes involved in immune responses. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

Predicting the onset of Addison's disease: ACTH, renin, cortisol and 21-hydroxylase autoantibodies

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Baker, Peter R.; Nanduri, Priyaanka; Gottlieb, Peter A.; Yu, Liping; Klingensmith, Georgeanna J.; Eisenbarth, George S.; Barker, Jennifer M.

2016-01-01

Summary Context Autoantibodies to 21-hydroxylase (21OH-AA) precede onset of autoimmune Addison's disease (AD). Progression to AD can take months to years, and early detection of metabolic decompensation may prevent morbidity and mortality. Objective To define optimal methods of predicting progression to overt AD (defined by subnormal peak cortisol response to Cosyntropin) in 21OH-AA+ individuals. Design, Setting and Participants Individuals were screened for 21OH-AA at the Barbara Davis Center from 1993 to 2011. Subjects positive for 21OH-AA (n = 87) were tested, and the majority prospectively followed for the development of Addison's disease, including seven diagnosed with AD upon 21OH-AA discovery (discovered), seven who progressed to AD (progressors) and 73 nonprogressors. Main Outcome Measured Plasma renin activity (PRA), ACTH, baseline cortisol, peak cortisol and 21OH-AA were measured at various time points relative to diagnosis of AD or last AD-free follow-up. Results Compared with nonprogressors, in the time period 2 months–2 years prior to the onset of AD, progressors were significantly more likely to have elevated ACTH (11–22 pm, P < 1E-4), with no significant differences in mean PRA (P = 0·07) or baseline cortisol (P = 0·08), and significant but less distinct differences seen with 21OH-AA levels (P < 1E-4) and poststimulation cortisol levels (P = 6E-3). Conclusion Moderately elevated ACTH is a more useful early indicator of impending AD than 21OH-AA, PRA or peak cortisol, in the 2 months–2 years preceding the onset of AD. PMID:22066755

Adrenal crisis in treated Addison's disease: a predictable but under-managed event.

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White, Katherine; Arlt, Wiebke

2010-01-01

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.

COEXISTENCE OF ADDISON'S DISEASE AND PERNICIOUS ANEMIA: IS THE NEW CLASSIFICATION OF AUTOIMMUNE POLYGLANDULAR SYNDROME APPROPRIATE?

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

2015-06-01

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.

Computed tomography morphology of the adrenal glands of patients with Addison's disease

International Nuclear Information System (INIS)

Ammini, A.C.; Gupta, R.; Mukopadhyay, C.; Shah, P.; Sandhu, M.S.; Vijayaraghavan, M.; Berry, M.

1996-01-01

To study the morphology of the adrenal glands of patients with Addison's disease an ultrasound and a computed tomographic scan of the adrenal glands were performed in 28 patients. Thirteen patients had bilateral, asymmetric adrenal enlargement. In six of these patients, areas of necrosis and calcification were also seen. Six patients had atrophic glands with calcification and nine patients had normal/atrophic glands without calcification. After instituting appropriate treatment, computed tomography (CT) was repeated between 6 months and 3 years later in 10 of the 13 patients with adrenal enlargement. A reduction in gland size was noted in all patients and one had functional recovery. It is concluded that the appearance of the adrenal glands on CT depends not only on the nature of the underlying disease but also on the duration of the illness and the type of treatment. The results highlighted the importance of studying adrenal morphology during the initial evaluation of patients with adrenal insufficiency. 11 refs., 4 tabs., 4 figs

Takotsubo-like syndrome triggered by fludrocortisone overdose for Addison's disease: a case report.

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Campean, Radu; Hasun, Matthias; Stöllberger, Claudia; Bucher, Johannes; Finsterer, Josef; Schnack, Christoph; Weidinger, Franz

2016-10-12

Reversible left ventricular dysfunction, also termed Takotsubo cardiomyopathy, is rarely reported in Addison's disease after initiation of hormone replacement therapy. The pathogenesis of this cardiomyopathy is unknown. A 41-year-old white woman with a history of autoimmune Hashimoto thyroiditis diagnosed 3 years earlier and acute adrenal insufficiency diagnosed 3 weeks earlier presented with new onset of heart failure New York Heart Association class IV, which had started shortly after initiation of hormone replacement therapy with hydrocortisone 20 mg/day and fludrocortisone 0.3 mg/day. Nine days before admission she had collapsed because of dizziness and had a cerebral concussion and open fracture of her nasal bone, however, no further investigations were carried out at that time. A physical examination revealed leg edema, tachycardia, tachypnea, bilateral basal crepitations, and blood pressure 110/70 mmHg. An electrocardiogram showed sinus tachycardia, low voltage, negative T-waves in V 5 and V 6 and a corrected QT interval of 590 ms. Echocardiography revealed a reduced left ventricular systolic function with an ejection fraction of 30 %, and septal, apical, and anterior wall akinesia. Cardiac magnetic resonance imaging showed relative enhancement of gadolinium, indicating hyperemia and capillary leakage, and no myocardial scars. Because of the improvement in her cardiac function, lack of cardiovascular risk factors, and lack of signs for ischemia on magnetic resonance imaging, no coronary angiography was carried out. The results of sellar and renal magnetic resonance imaging were normal. Her troponin T was slightly elevated. Bisoprolol and ramipril were started. Her fludrocortisone dose was reduced to 0.05 mg/day. Her electrocardiogram and systolic function, documented by echocardiography and magnetic resonance imaging, normalized within 6 months. Although we could not exclude coronary artery disease by coronary angiography, her clinical course and

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

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

1993-01-01

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...

MAVS is not a Likely Susceptibility Locus for Addison's Disease and Type 1 Diabetes.

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Zurawek, Magdalena; Fichna, Marta; Kazimierska, Marta; Fichna, Piotr; Dzikiewicz-Krawczyk, Agnieszka; Przybylski, Grzegorz; Ruchala, Marek; Nowak, Jerzy

2017-06-01

Mitochondrial antiviral signaling (MAVS) protein is an intracellular adaptor molecule, downstream of viral sensors, retinoid acid-inducible gene I (RIG-I)-like receptors (RLRs). Impaired antiviral cell signaling might contribute to autoimmunity. Studies have recently shown variations in genes encoding RLRs as risk factors for autoimmune diseases. We investigated whether MAVS coding polymorphisms are associated with Addison's disease (AD) and type 1 diabetes (T1D) in Polish population. We genotyped 140 AD, 532 T1D patients and 600 healthy controls for MAVS rs17857295, rs7262903, rs45437096 and rs7269320. Genotyping was performed by TaqMan assays. Distribution of the MAVS genotypes and alleles did not reveal significant differences between patients and controls (p > 0.05). This analysis did not indicate the association of the MAVS locus with susceptibility to AD and T1D.

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.

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Upfal, A

2005-06-01

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.

Maternal and neonatal outcomes of pregnancies in women with Addison's disease: a population-based cohort study on 7.7 million births.

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Schneiderman, M; Czuzoj-Shulman, N; Spence, A R; Abenhaim, H A

2017-10-01

To assess if pregnancies among women with Addison's disease (AD) are at higher risk of adverse maternal and neonatal outcomes. Population-based retrospective cohort study. All births in the United States' Healthcare Cost and Utilization Project-Nationwide Inpatient Sample from 2003 to 2011. Baseline characteristics were compared between women with AD and those without, and prevalence over time was measured. Logistic regression was used to estimate the effect of AD on maternal and neonatal outcomes by calculating the crude and adjusted odds ratios (OR) and corresponding 95% confidence intervals (95% CI). We calculated a prevalence of AD in pregnancy of 5.5/100 000, increasing from 5.6 to 9.6/100 000 (P = 0.0001) over the 9-year study period. Compared with women without AD, women with AD were more likely to deliver preterm (OR 1.50, 95% CI 1.16-1.95), deliver by caesarean section (OR 1.32, 95% CI 1.08-1.61), have impaired wound healing (OR 4.28, 95% CI 2.55-7.18), develop infections (OR 2.44, 95% CI 1.66-3.58) and develop thromboembolism (OR 5.21, 95% CI 2.15-12.63), require transfusions (OR 6.69, 95% CI 4.69-9.54), and have prolonged postpartum hospital admissions (OR 5.71, 95% CI 4.37-7.47). Maternal mortality was significantly higher than in the comparison group (OR 22.30, 95% CI 6.82-72.96). Congenital anomalies (OR 3.62, 95% CI 2.05-6.39) and small-for-gestational age infants (OR 1.78, 95% CI 1.15-2.75) were more likely in these pregnancies. Addison's disease significantly increases the risk of severe adverse maternal and neonatal outcomes, so pregnant women with AD are best managed in tertiary-care centres. Pregnancies complicated by Addison's disease have an increased risk of adverse maternal and neonatal outcomes. © 2016 Royal College of Obstetricians and Gynaecologists.

CTLA-4 as a genetic determinant in autoimmune Addison's disease.

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Wolff, A S B; Mitchell, A L; Cordell, H J; Short, A; Skinningsrud, B; Ollier, W; Badenhoop, K; Meyer, G; Falorni, A; Kampe, O; Undlien, D; Pearce, S H S; Husebye, E S

2015-09-01

In common with several other autoimmune diseases, autoimmune Addison's disease (AAD) is thought to be caused by a combination of deleterious susceptibility polymorphisms in several genes, together with undefined environmental factors and stochastic events. To date, the strongest genomic association with AAD has been with alleles at the HLA locus, DR3-DQ2 and DR4. The contribution of other genetic variants has been inconsistent. We have studied the association of 16 single-nucleotide polymorphisms (SNPs) within the CD28-CTLA-4-ICOS genomic locus, in a cohort comprising 691 AAD patients of Norwegian and UK origin with matched controls. We have also performed a meta-analysis including 1002 patients from European countries. The G-allele of SNP rs231775 in CTLA-4 is associated with AAD in Norwegian patients (odds ratio (OR)=1.35 (confidence interval (CI) 1.10-1.66), P=0.004), but not in UK patients. The same allele is associated with AAD in the total European population (OR=1.37 (CI 1.13-1.66), P=0.002). A three-marker haplotype, comprising PROMOTER_1661, rs231726 and rs1896286 was found to be associated with AAD in the Norwegian cohort only (OR 2.43 (CI 1.68-3.51), P=0.00013). This study points to the CTLA-4 gene as a susceptibility locus for the development of AAD, and refines its mapping within the wider genomic locus.

Autoimmunity predominates in a large South African cohort with Addison's disease of mainly European descent despite long-standing disease and is associated with HLA DQB*0201.

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Ross, Ian; Boulle, Andrew; Soule, Steven; Levitt, Naomi; Pirie, Fraser; Karlsson, Anders; Mienie, Japie; Yang, Ping; Wang, Hongjie; She, Jin-Xiong; Winter, William; Schatz, Desmond

2010-09-01

We sought to determine whether autoimmunity is the predominant cause of Addison's disease in South Africa and whether human leucocyte antigen (HLA) DQ association exists. We compiled a national registry of patients from primary care, referral centres and private practices. A total of 144 patients, 94 of European descent, 34 Mixed Ancestry, 5 Asian and 11 Black Africans (mean age 45.9 years, range 2.7-88 years; mean duration of disease 13.1 years, range 0-50 years) and controls were matched for gender and ethnicity. All potential causes were investigated. Fifty one per cent of cases (74 patients) were autoimmune in aetiology. Either 21-hydroxylase autoantibodies (72 patients, 50% of entire patient group) or adrenocortical autoantibodies (35 patients, 24%) were present, while 23% of patients had both. None of the Asian (n = 5) or Black (n = 11) patients had evidence of autoimmune disease. Overall 8% of patients had tuberculosis, 4% adrenoleucodystrophy, 1% adrenocorticotrophic hormone resistance syndrome and 6% X-linked adrenal hypoplasia. In those with autoimmune disease primary hypothyroidism (47%), premature ovarian failure (8%) and type 1 diabetes (7%) were the most prevalent accompanying autoimmune conditions. HLA DQB1*0201 alleles predominated in the autoimmune group (DQB1*0201: 65%vs 43% of controls P = 0.017) with the *0201/*0302 heterozygous genotype being the most prevalent (28%vs 8%P = 0.02). While autoimmunity accounts for at least half of patients with Addison's disease in South Africa and is associated with HLA DQB1*0201, none of the Black Africans or Asians in this cohort had adrenal autoantibodies. Moreover, 21-hydroxylase autoantibodies were detectable in a higher proportion than adrenocortical autoantibodies, especially in those patients with a long history after disease onset.

Coexistence of Cushing syndrome from functional adrenal adenoma and Addison disease from immune-mediated adrenalitis.

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

2012-06-01

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.

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

2009-12-01

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

Visceral Fat and Novel Biomarkers of Cardiovascular Disease in Patients With Addison's Disease: A Case-Control Study.

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Bergthorsdottir, Ragnhildur; Ragnarsson, Oskar; Skrtic, Stanko; Glad, Camilla A M; Nilsson, Staffan; Ross, Ian Louis; Leonsson-Zachrisson, Maria; Johannsson, Gudmundur

2017-11-01

Patients with Addison's disease (AD) have increased cardiovascular mortality. To study visceral fat and conventional and exploratory cardiovascular risk factors in patients with AD. A cross-sectional, single-center, case-control study. Patients (n = 76; n = 51 women) with AD and 76 healthy control subjects were matched for sex, age, body mass index (BMI), and smoking habits. The primary outcome variable was visceral abdominal adipose tissue (VAT) measured using computed tomography. Secondary outcome variables were prevalence of metabolic syndrome (MetS) and 92 biomarkers of cardiovascular disease. The mean ± standard deviation age of all subjects was 53 ± 14 years; mean BMI, 25 ± 4 kg/m2; and mean duration of AD, 17 ± 12 years. The median (range) daily hydrocortisone dose was 30 mg (10 to 50 mg). Median (interquartile range) 24-hour urinary free cortisol excretion was increased in patients vs controls [359 nmol (193 to 601 nmol) vs 175 nmol (140 to 244 nmol); P 1] and vasodilatory protective marker was decreased (FC, <1). Twenty-six patients (34%) vs 12 control subjects (16%) fulfilled the criteria for MetS (P = 0.01). Despite higher cortisol exposure, VAT was not increased in patients with AD. The prevalence of MetS was increased and several biomarkers of cardiovascular disease were adversely affected in patients with AD. Copyright © 2017 Endocrine Society

MicroRNA expressions in PMBCs, CD4+, and CD8+ T-cells from patients suffering from autoimmune Addison's disease.

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Bernecker, C; Halim, F; Haase, M; Willenberg, H S; Ehlers, M; Schott, M

2013-08-01

Autoimmune Addison's disease (AD) is a rare but potentially life threatening disease. The exact etiology of the immune response to the adrenal gland is still unknown. MicroRNAs (miRNAs) critically control gene-expression and play an important role in regulating the immune response. The aim of this study was to determine key immunoregulatory miRNAs influencing autoimmune adrenal insufficiency. For this purpose selected miRNAs were amplified by a semiquantitative SYBR Green PCR from blood mononuclear cells and after purification from CD4+ and CD 8+ cells of 6 patients with autoimmune adrenal insufficiency and 10 healthy controls. In CD4+ T-cells miRNA 181a*_1 (18.02 in AD vs. 11.99 in CG, p=0.0047) is significantly increased whereas miRNA 200a_1 (12.48 in AD vs. 19.40 in CG, p=0.0003) and miRNA 200a_2* (8.59 in AD vs. 17.94 in CG, p=0.0160) are significantly decreased. miRNA 200a_1 (12.37 in AD group vs. 18.12 in control group, p=0.001) and miRNA 200a_2* (10.72 in AD group vs. 17.84 in control group, p=0.022) are also significantly decreased in CD8+ T-cells. This study could show for the first time a significant change of three defined miRNAs in PBMCs, CD4+, and CD8+ T-cells of autoimmune AD patients in vivo. These data may help to better understand the cause of the autoimmune processes leading to autoimmune AD. They extend our very limited knowledge concerning miRNAs in autoimmune Addison's disease. © Georg Thieme Verlag KG Stuttgart · New York.

Addison's Disease in Evolution: An Illustrative Case and Literature Review.

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Hinz, Laura E; Kline, Gregory A; Dias, Valerian C

2014-09-01

To present a case of symptomatic autoimmune adrenal insufficiency with initially normal serum cortisol and to caution about limitations of the current diagnostic algorithm for adrenal insufficiency, which does not reflect the pathophysiology of early disease. We describe the clinical presentation and relevant investigations of a patient ultimately found to have Addison's disease, which is followed by a focused review of the literature. A 41-year-old Caucasian woman with autoimmune hypothyroidism, premature ovarian failure, and microscopic colitis presented with nausea, salt craving, increased skin pigmentation, and postural hypotension. Initial bloodwork revealed a normal morning cortisol of level of 19.2 μg/dL (normal, 7.2 to 25 μg/dL) but an adrenocorticotropic hormone (ACTH) level 10 times normal, at 513.6 pg/mL (normal, <52.5 pg/mL). Her potassium was normal, but her aldosterone level was 4.12 ng/dL (normal, 12.3 to 62.5 ng/dL) and her renin activity was increased (23.0 mg/dL/hour; normal, <6.0 mg/dL/hour). Six weeks after initial presentation, she was found to have anti-adrenal antibodies. It was not until 10 weeks after her initial symptomatic presentation that her morning cortisol level was found to be subnormal and a formal diagnosis of adrenal insufficiency was made. The present case and literature review reveal that common diagnostic approaches will miss patients with (possibly symptomatic) early adrenal insufficiency. We suggest that serum ACTH level testing or tests of mineralocorticoid function be included in the initial step of investigation for suspected primary adrenal insufficiency.

Addison's Disease

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... of potassium and low levels of sodium. What causes Addison’s disease? Addison’s disease is caused by injury to your ... example, a problem with your pituitary gland can cause secondary Addison’s disease. Or, you may develop Addison’s disease if you ...

Continuous subcutaneous hydrocortisone infusion therapy in Addison's disease: a randomized, placebo-controlled clinical trial.

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Gagliardi, Lucia; Nenke, Marni A; Thynne, Tilenka R J; von der Borch, Jenny; Rankin, Wayne A; Henley, David E; Sorbello, Jane; Inder, Warrick J; Torpy, David J

2014-11-01

Patients with Addison's disease (AD) report impaired subjective health status (SHS). Since cortisol exhibits a robust circadian cycle that entrains other biological clocks, impaired SHS may be due to the noncircadian cortisol profile achieved with conventional glucocorticoid replacement. Continuous subcutaneous hydrocortisone infusion (CSHI) reproduces a circadian cortisol profile, but its effects on SHS have not been objectively evaluated. The aim of this study was to determine the effect of CSHI on SHS in AD. This was a multicentre, double-blind, placebo-controlled trial of CSHI vs oral glucocorticoid therapy. Participants received in random order 4 weeks of: CSHI and oral placebo, and subcutaneous placebo and oral hydrocortisone, separated by a 2-week washout period. SHS was assessed using the Short-Form 36 (SF-36), General Health Questionnaire (GHQ-28), Fatigue Scale (FS), Gastrointestinal Symptom Rating Scale (GSRS); and Addison's Quality of Life Questionnaire (AddiQoL). Participants were asked their (blinded) treatment preference. Twenty-four hour urine free cortisol (UFC) and diurnal salivary cortisol collections compared cortisol exposure during each treatment. Ten participants completed the study. Baseline SHS scores (mean ± SE) were consistent with mild impairment: SF-36 physical component summary 48.4 (± 2.4), mental component summary 53.3 (± 3.0); GHQ-28 18.1 (± 3.3); GSRS 3.7 (± 1.6), and AddiQoL 94.7 (± 3.7). FS was similar to other AD cohorts 13.5 (± 1.0) (P = 0.82). UFC between treatments was not different (P = 0.87). The salivary cortisol at 0800 h was higher during CSHI (P = 0.03), but not at any other time points measured. There was no difference between the treatments in the SHS assessments. Five participants preferred CSHI, four oral hydrocortisone, and one was uncertain. Biochemical measurements indicate similar cortisol exposure during each treatment period, although a more circadian pattern was evident during CSHI. CSHI does not

Role of the X-linked gene GPR174 in autoimmune Addison's disease.

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Napier, C; Mitchell, A L; Gan, E; Wilson, I; Pearce, S H S

2015-01-01

Autoimmune endocrinopathies demonstrate a profound gender bias, but the reasons for this remain obscure. The 1000 genes on the X chromosome are likely to be implicated in this inherent susceptibility; various theories, including skewed X chromosome inactivation and fetal microchimerism, have been proposed. GPR174 is an Xq21 putative purinergic receptor that is widely expressed in lymphoid tissues. A single-nucleotide polymorphism, rs3827440, encoding Ser162Pro, has recently been associated with Graves' disease in Chinese and Polish populations, suggesting a role of this X chromosome gene in autoimmune disease. We investigated the role of rs3827440 in a UK cohort of patients with autoimmune Addison's disease (AAD). Samples from 286 AAD cases and 288 healthy controls were genotyped using TaqMan single-nucleotide polymorphism genotyping assays (C_25954273_10) on the Applied Biosystems 7900HT Fast real-time PCR system. Using a dominant (present/absent) model, the serine-encoding T allele of rs3827440 was present in 189 of 286 AAD patients (66%) compared with 132 of 288 unaffected controls (46%) [P = .010, odds ratio 1.80 (5%-95% confidence interval 1.22-2.67)]. An allele dosage model found a significant excess of the T allele in AAD patients compared with controls [P = .03, odds ratio 1.34 (5%-95% confidence interval 1.07-1.67)]. We have demonstrated a significant association of this X chromosome-encoded immunoreceptor with AAD for the first time. This X-linked gene could have a more generalized role in autoimmunity pathogenesis: G protein-coupled receptors are promising drugable targets, and further work to elucidate the functional role of GPR174 is now warranted.

Addison′s disease

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Soumya Brata Sarkar; Subrata Sarkar; Supratim Ghosh; Subhankar Bandyopadhyay

2012-01-01

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 cr...

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

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2011-01-01

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. PMID:21851588

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

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Brønstad Ingeborg

2011-08-01

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.

Natural history of autoimmune primary ovarian insufficiency in patients with Addison's disease: from normal ovarian function to overt ovarian dysfunction.

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De Bellis, Annamaria; Bellastella, Giuseppe; Falorni, Alberto; Aitella, Ernesto; Barrasso, Mariluce; Maiorino, Maria Ida; Bizzarro, Elio; Bellastella, Antonio; Giugliano, Dario; Esposito, Katherine

2017-10-01

Women with autoimmune Addison's disease with normal ovulatory cycles but positive for steroid cell antibodies (StCA) have been considered at risk of premature ovarian insufficiency (POI). Thirty-three women younger than 40 years, with subclinical-clinical autoimmune Addison's disease but with normally ovulatory menses, were followed up for 10 years to evaluate the long-term time-related variations of StCA, ovarian function and follicular reserve. All patients and 27 control women were investigated at the start and every year for the presence and titre of StCA (by indirect immunofluorescence), serum concentrations of anti-Mullerian hormone (AMH) and ovarian function at four consecutive menses every year. At the start of the study StCA were present in 16 women (group 1), at low/middle titres (≤1:32) in seven of them (43.8%, group 1A), at high titres (>1:32) in the remaining nine patients (group 1B, 56.2%), while they were absent from 17 patients (group 2). During the follow-up period, all women in group 1A remained StCA-positive at low/middle titres with normal ovulatory menses and normal gonadotrophin and AMH levels, while all patients in group 1B showed a further increase of StCA titres (1:128-1:256) and progressed through three stages of ovarian function. None of the patients in group 2 and controls showed the appearance of StCA or ovarian dysfunction during the follow-up. The presence of StCA at high titres can be considered a good predictive marker of subsequent development of autoimmune POI. To single out the stages of autoimmune POI may allow a timely therapeutic choice in the subclinical and early clinical stages. © 2017 European Society of Endocrinology.

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

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De Nardo Pasquale

2012-01-01

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

A study of the epitopes on steroid 21-hydroxylase recognized by autoantibodies in patients with or without Addison's disease

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Volpato, M; Prentice, L; Chen, S; Betterle, C; Rees Smith, B; Furmaniak, J

1998-01-01

Steroid 21-hydroxylase (21-OH) autoantibodies are found in patients with autoimmune Addison's disease (AAD), either isolated or associated with autoimmune polyglandular syndrome (APS) type I and II and in adrenal-cortex autoantibody (ACA)-positive patients without AAD. In order to assess any differences in the 21-OH autoantibodies in these different patient groups, we have studied their reactivity with different epitopes on 21-OH using full length and modified 35S-labelled 21-OH proteins produced in an in vitro transcription/translation system. There were no major differences in the pattern of autoantibody reactivity with the different modified 21-OH proteins in patients with isolated AAD or with APS types I and II, and in 21-OH autoantibody-positive patients with clinical AAD, subclinical AAD and those maintaining a normal adrenal function. Our studies also indicate that the main epitopes for 21-OH autoantibodies in patients with different forms of autoimmune adrenal disease are located in the C-terminal end and in a central region of 21-OH. PMID:9486414

Polymorphisms of the GR and HSD11B1 genes influence body mass index and weight gain during hormone replacement treatment in patients with Addison's disease.

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Molnár, Ágnes; Kövesdi, Annamária; Szücs, Nikolette; Tóth, Miklós; Igaz, Péter; Rácz, Károly; Patócs, Attila

2016-08-01

Glucocorticoid substitution is essential in patients with chronic primary adrenocortical insufficiency (Addison's disease) and both over-treatment and inadequate dosage have deleterious effects. Individual sensitivity to glucocorticoids is partly genetically determined. To test the hypothesis whether the well-characterized SNPs of the GR and HSD11B1 genes may modulate the individual sensitivity to exogenous glucocorticoids and may influence clinical and/or laboratory parameters and the glucocorticoid substitution dosage in patients with Addison's disease. 68 patients with primary adrenocortical insufficiency were involved. Clinical and laboratory data, as well as the dosage of the hormone replacement therapy were collected. Peripheral blood DNA was isolated, and the GR and HSD11B1 SNPs were examined using allele-specific PCR or Taqman assay on Real Time PCR. The allele frequency of the GR N363S polymorphism was higher in patients compared to the control group and the disease appeared significantly earlier in patients harbouring the GR A3669G compared to noncarriers. These patients had higher ACTH level measured at the time of diagnosis. Homozygous BclI carriers had higher body mass index (BMI) and lower total hydrocortisone equivalent supplementation dose needed than heterozygous or noncarriers. The BMI and weight gain during hormone replacement therapy were also higher in carriers of the HSD11B1 rs4844880 treated with glucocorticoids other than dexamethasone. The BclI polymorphism of the GR gene and the rs4844880 of the HSD11B1 gene may contribute to weight gain and may affect the individual need of glucocorticoid substitution dose in these patients. © 2016 John Wiley & Sons Ltd.

VT Lidar Slope (1.6 meter) - 2012 - Addison County

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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"...

VT Lidar Aspect (1.6 meter) - 2012 - Addison County

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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...

Heritability of Addison's disease and prevalence of associated autoimmunity in a cohort of 112,100 Swedish twins.

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Skov, Jakob; Höijer, Jonas; Magnusson, Patrik K E; Ludvigsson, Jonas F; Kämpe, Olle; Bensing, Sophie

2017-12-01

The pathophysiology behind autoimmune Addison's disease (AAD) is poorly understood, and the relative influence of genetic and environmental factors remains unclear. In this study, we examined the heritability of AAD and explored disease-associated autoimmune comorbidity among Swedish twins. A population-based longitudinal cohort of 112,100 Swedish twins was used to calculate the heritability of AAD, and to explore co-occurrence of 10 organ-specific autoimmune disorders in twin pairs with AAD. Diagnoses were collected 1964-2012 through linkage to the Swedish National Patient Register. The Swedish Prescribed Drug Register was used for additional diagnostic precision. When available, biobank serum samples were used to ascertain the AAD diagnosis through identification of 21-hydroxylase autoantibodies. We identified 29 twins with AAD. Five out of nine (5/9) monozygotic pairs and zero out of fifteen (0/15) dizygotic pairs were concordant for AAD. The probandwise concordance for monozygotic twins was 0.71 (95% CI 0.40-0.90) and the heritability 0.97 (95% CI 0.88-99). Autoimmune disease patterns of monozygotic twin pairs affected by AAD displayed a higher degree of similarity than those of dizygotic twins, with an incidence rate ratio of 15 (95% CI 1.8-116) on the number of shared autoimmune diagnoses within pairs. The heritability of AAD appears to be very high, emphasizing the need for further research on the genetic etiology of the disease. Monozygotic twin concordance for multiple autoimmune manifestations suggests strong genetic influence on disease specificity in organ-specific autoimmunity.

Clues for early detection of autoimmune Addison's disease - myths and realities.

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Saevik, Å B; Åkerman, A-K; Grønning, K; Nermoen, I; Valland, S F; Finnes, T E; Isaksson, M; Dahlqvist, P; Bergthorsdottir, R; Ekwall, O; Skov, J; Nedrebø, B G; Hulting, A-L; Wahlberg, J; Svartberg, J; Höybye, C; Bleskestad, I H; Jørgensen, A P; Kämpe, O; Øksnes, M; Bensing, S; Husebye, E S

2018-02-01

Early detection of autoimmune Addison's disease (AAD) is important as delay in diagnosis may result in a life-threatening adrenal crisis and death. The classical clinical picture of untreated AAD is well-described, but methodical investigations are scarce. Perform a retrospective audit of patient records with the aim of identifying biochemical markers for early diagnosis of AAD. A multicentre retrospective study including 272 patients diagnosed with AAD at hospitals in Norway and Sweden during 1978-2016. Scrutiny of medical records provided patient data and laboratory values. Low sodium occurred in 207 of 247 (84%), but only one-third had elevated potassium. Other common nonendocrine tests were largely normal. TSH was elevated in 79 of 153 patients, and hypoglycaemia was found in 10%. Thirty-three per cent were diagnosed subsequent to adrenal crisis, in whom electrolyte disturbances were significantly more pronounced (P < 0.001). Serum cortisol was consistently decreased (median 62 nmol L -1 [1-668]) and significantly lower in individuals with adrenal crisis (38 nmol L -1 [2-442]) than in those without (81 nmol L -1 [1-668], P < 0.001). The most consistent biochemical finding of untreated AAD was low sodium independent of the degree of glucocorticoid deficiency. Half of the patients had elevated TSH levels. Only a minority presented with marked hyperkalaemia or other nonhormonal abnormalities. Thus, unexplained low sodium and/or elevated TSH should prompt consideration of an undiagnosed AAD, and on clinical suspicion bring about assay of cortisol and ACTH. Presence of 21-hydroxylase autoantibodies confirms autoimmune aetiology. Anticipating additional abnormalities in routine blood tests may delay diagnosis. © 2017 The Association for the Publication of the Journal of Internal Medicine.

Impact of Month of Birth on the Risk of Development of Autoimmune Addison's Disease.

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Pazderska, Agnieszka; Fichna, Marta; Mitchell, Anna L; Napier, Catherine M; Gan, Earn; Ruchała, Marek; Santibanez-Koref, Mauro; Pearce, Simon H

2016-11-01

The pathogenesis of autoimmune Addison's disease (AAD) is thought to be due to interplay of genetic, immune, and environmental factors. A month-of-birth effect, with increased risk for those born in autumn/winter months, has been described in autoimmune conditions such as type 1 diabetes and autoimmune thyroid disease. Month-of-birth effect was investigated in 2 independent cohorts of AAD subjects. The monthly distribution of birth in AAD patients was compared with that of the general population using the cosinor test. A total of 415 AAD subjects from the United Kingdom cohort were compared with 8 180 180 United Kingdom births, and 231 AAD subjects from the Polish cohort were compared with 2 421 384 Polish births. Association between month of birth and the susceptibility to AAD. In the entire cohort of AAD subjects, month-of-birth distribution analysis showed significant periodicity with peak of births in December and trough in May (P = .028). Analysis of the odds ratio distribution based on month of birth in 2 cohorts of patients with AAD versus the general population revealed a December peak and May trough, and January peak and July trough, in the United Kingdom and Polish cohorts, respectively. For the first time, we demonstrate that month of birth exerts an effect on the risk of developing AAD, with excess risk in individuals born in winter months and a protective effect when born in the summer. Exposure to seasonal viral infections in the perinatal period, coupled with vitamin D deficiency, could lead to dysregulation of innate immunity affecting the risk of developing AAD.

Mortality in patients with diabetes mellitus and Addison's disease: a nationwide, matched, observational cohort study.

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Chantzichristos, Dimitrios; Persson, Anders; Eliasson, Björn; Miftaraj, Mervete; Franzén, Stefan; Bergthorsdottir, Ragnhildur; Gudbjörnsdottir, Soffia; Svensson, Ann-Marie; Johannsson, Gudmundur

2017-01-01

Our hypothesis was that patients with diabetes mellitus obtain an additional risk of death if they develop Addison's disease (AD). Nationwide, matched, observational cohort study cross-referencing the Swedish National Diabetes Register with Inpatient, Cancer and Cause of Death Registers in patients with diabetes (type 1 and 2) and AD and matched controls with diabetes. Clinical characteristics at baseline, overall, and cause-specific mortality were assessed. The relative risk of death was assessed using a Cox proportional hazards regression model. Between January 1996 and December 2012, 226 patients with diabetes and AD were identified and matched with 1129 controls with diabetes. Median (interquartile range) follow-up was 5.9 (2.7-8.6) years. When patients with diabetes were diagnosed with AD, they had an increased frequency of diabetes complications, but both medical history of cancer and coronary heart disease did not differ compared with controls. Sixty-four of the 226 patients with diabetes and AD (28%) died, while 112 of the 1129 controls (10%) died. The estimated relative risk increase (hazard ratio) in overall mortality in the diabetes and AD group was 3.89 (95% confidence interval 2.84-5.32) compared with controls with diabetes. The most common cause of death was cardiovascular in both groups, but patients with diabetes and AD showed an increased death rate from diabetes complications, infectious diseases and unknown causes. Patients with the rare combination of diabetes and AD showed a markedly increased mortality and died more frequently from infections and unknown causes than patients with diabetes alone. Improved strategy for the management of this combination of metabolic disorders is needed. © 2017 European Society of Endocrinology.

Salivary Cortisol and Cortisone do not Appear to be Useful Biomarkers for Monitoring Hydrocortisone Replacement in Addison's Disease.

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Ross, I L; Lacerda, M; Pillay, T S; Blom, D J; Johannsson, G; Dave, J A; Levitt, N S; Haarburger, D; van der Walt, J-S

2016-12-01

Salivary cortisol has been used to monitor hydrocortisone replacement in patients with Addison's disease (AD). Since salivary cortisol is metabolised to salivary cortisone, it may be an adjunctive analyte to assess adequacy of hydrocortisone replacement in patients with AD. We aimed to characterise the exposure of salivary cortisol and cortisone in patients and healthy controls. We measured salivary cortisol and cortisone by liquid chromatography-tandem mass spectrometry and constructed a day curve (08:00 until 24:00 h) with 16 time points in 25 AD patients taking their usual hydrocortisone dose and in 26 healthy controls. The median (interquartile range) area under the curve (AUC) for cortisol was not different for patients, compared with controls [55.63 (32.91-151.07) nmol*min*l -1 vs. 37.49 (27.41-52.00) nmol*min*l -1 ; p=0.098, respectively], whereas the peak cortisol C max was higher in patients [32.61 (5.75-146.19) nmol/l vs. 8.96 (6.96-12.23) nmol/l; p=0.013], compared with controls. The AUC for cortisone [23.65 (6.10-54.76) nmol*min*l -1 vs. 227.73 (200.10-280.52) nmol*min*l -1 ; p≤ 0.001, respectively], and peak cortisone C max was lower in patients than in controls [11.11 (2.91-35.85) nmol/l vs. 33.12 (25.97-39.95) nmol/l; p=0.002]. The AUC for salivary cortisol and salivary cortisone were not correlated with any measures of hydrocortisone dose. The time-course and AUC of salivary cortisol were similar between Addison's patients and healthy controls. Patients had substantially lower salivary cortisone AUC, compared to healthy controls. Salivary cortisol AUC and pharmacokinetics were not related to hydrocortisone dose and thus are not likely useful markers for the adequacy of hydrocortisone replacement. © Georg Thieme Verlag KG Stuttgart · New York.

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome.

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Tzoufi, Meropi; Makis, Alexandros; Chaliasos, Nikolaos; Nakou, Iliada; Siomou, Ekaterini; Tsatsoulis, Agathoklis; Zikou, Anastasia; Argyropoulou, Maria; Bonnefont, Jean Paul; Siamopoulou, Antigone

2013-04-01

Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA deletion syndrome defined as the presence of ophthalmoplegia, pigmentary retinopathy, onset less than age 20 years, and one of the following: cardiac conduction defects, cerebellar syndrome, or cerebrospinal fluid protein above 100 mg/dl. KSS may affect many organ systems causing endocrinopathies, encephalomyopathy, sensorineural hearing loss, and renal tubulopathy. Clinical presentation at diagnosis is quite heterogeneous and, usually, few organs are affected with progression to generalized disease early in adulthood. We present the case of a boy with KSS presenting at the age of 5 years with myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome. The proper replacement treatment along with the administration of mitochondrial metabolism-improving agents had a brief ameliorating effect, but gradual severe multisystemic deterioration was inevitable over the next 5 years. This report highlights the fact that in case of simultaneous presentation of polyendocrinopathies and renal disease early in childhood, KSS should be considered.

VT Lidar nDSM (1.6 meter) - 2012 - Addison County

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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...

JST Thesaurus Headwords and Synonyms: Addison-Biermer貧血 [MeCab user dictionary for science technology term[Archive

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Full Text Available MeCab user dictionary for science technology term Addison-Biermer貧血 名詞 サ変接続 * * * * 悪性貧血... アクセイヒンケツ アクセイヒンケツ Thesaurus2015 200906044106165134 C LS51 UNKNOWN_2 Addison - Biermer 貧血

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

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Hahner Stefanie

2008-07-01

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.

AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I.

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Bøe Wolff, A S; Oftedal, B; Johansson, S; Bruland, O; Løvås, K; Meager, A; Pedersen, C; Husebye, E S; Knappskog, P M

2008-03-01

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 of the AIRE gene covering at least exon 2 to exon 8. We conclude that polymorphisms in the AIRE gene are not associated with AAD and APS II. We further suggest that DNA analysis of the parents of patients found to be homozygous for mutations in AIRE, always should be performed.

The natural history of autoimmune Addison's disease with a non-classical presentation: a case report and review of literature.

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Manso, Jacopo; Pezzani, Raffaele; Scarpa, Riccardo; Gallo, Nicoletta; Betterle, Corrado

2018-05-24

Autoimmune Addison's disease (AAD) is the most frequent cause of adrenocortical insufficiency. The natural history of AAD usually comprises five consecutive stages with the first stage characterized by the increase of plasma renin consistent with the impairment of pars glomerulosa, which is usually the first affected layer of the adrenal cortex. We describe a 19-year-old female with Hashimoto's thyroiditis (HT) who underwent an autoantibody screening due to having the personal and family history of other autoimmune diseases in the absence of relevant clinical manifestations. She was positive for adrenal cortex autoantibodies (ACA) and steroid 21-hydroxylase autoantibodies (21-OH Ab) at high titers. She had increased basal levels of ACTH with normal basal cortisol not responding to ACTH stimulation, reduced levels of dehydroepiandrosterone-sulfate but normal levels of orthostatic renin and aldosterone. This scenario was consistent with a subclinical AAD presenting with first impairments in pars fasciculata and reticularis and conserved pars glomerulosa function. Only subsequently, progressive deficiency in pars glomerulosa function has become evident. Review of the literature showed that there was only one case, reported to date, with a similar atypical natural history of AAD. The strategies for screening for ACA/21-OH Ab in patients with HT are discussed.

Longitudinal AddiQoL scores may identify higher risk for adrenal crises in Addison's disease.

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Meyer, Gesine; Koch, Maike; Herrmann, Eva; Bojunga, Jörg; Badenhoop, Klaus

2018-05-01

Several studies have shown a reduced quality of life (QoL) in patients with Addison's disease (AD), but investigations of QoL over a long-term course are lacking. Adrenal crises (AC) are life-threatening complications in AD. The purpose of this prospective study was to test whether the repeated use of QoL-questionnaires can detect prodromal periods of an AC. 110 patients with AD were asked to complete the disease specific-QoL questionnaire AddiQoL and a short questionnaire about adverse events once monthly over a period of ten months. AC was defined if at least two of the following symptoms were reported: (a) hypotension, (b) nausea or vomiting, (c) severe fatigue, (d) documented hyponatremia, hyperkalemia, or hypoglycemia, and subsequent parenteral glucocorticoid administration was carried out. Prevalence of AC was 10.9/100 patient years. AddiQoL scores in patients with AC showed a trend (p = 0,08) to a wider fluctuation over time. Subjective precrises not meeting the criteria for AC were reported by 31 patients who had significantly lower AddiQoL scores (p = 0,018). These are the first data showing the course of QoL during a period of ten months in patients with AD. Incidence of AC exceeds previous data. Our data show, that subjective precrises in AD associate with lower QoL. AC, as well as precrises affect intraindividual AddiQol-scores over time with a trend to a stronger fluctuation. Longitudinal AddiQol scores and self-reporting of precrises via patient diaries are additional clinical tools to identify higher risk for critical events.

Impaired quality and efficiency of sleep impairs cognitive functioning in Addison's disease.

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

2017-04-01

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's<0.065), and neither group showed significant sleep-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

Adrenal insufficiency secondary to tuberculosis: the value of telemedicine in the remote diagnosis of Addison's disease in Ebeye, Republic of the Marshall Islands.

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Bush, Lisabeth A; Ruess, Lynne; Jack, Tom; Person, Donald A

2009-01-01

A young Marshallese woman presented with the insidious development of fever, cough, fatigue, profound weakness, massive weight loss, cachexia, alopecia, amenorrhea, and periumbilical hyperpigmentation. Limited laboratory studies revealed anemia, leukocytosis, and hyponatremia. Imaging studies, as well as digital photographs, transmitted over the Internet, using the secure Pacific Island Health Care Project (PIHCP), store-and-forward telemedicine system, suggested the diagnosis of disseminated tuberculosis, and antimycobacterial antibiotics were begun. Sputum cultures eventually grew Mycobacterium tuberculosis. Based on the constellation of clinical signs and symptoms, the transmitted images, and limited laboratory data, adrenal tuberculosis (Addison's disease) with adrenal insufficiency was diagnosed and corticosteroids were initiated. The patient responded dramatically This case underscores the utility of telemedicine in the diagnosis and treatment of patients with unusual conditions, rarely seen today in the United States, from remote sites in the Developing World.

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

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

2014-06-01

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.

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.

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

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Mitchell, Anna L; Bøe Wolff, Anette; MacArthur, Katie; Weaver, Jolanta U; Vaidya, Bijay; Erichsen, Martina M; Darlay, Rebecca; Husebye, Eystein S; Cordell, Heather J; Pearce, Simon H S

2015-01-01

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.

Gonadal function in males with autoimmune Addison's disease and autoantibodies to steroidogenic enzymes.

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Dalla Costa, M; Bonanni, G; Masiero, S; Faggian, D; Chen, S; Furmaniak, J; Rees Smith, B; Perniola, R; Radetti, G; Garelli, S; Chiarelli, S; Albergoni, M P; Plebani, M; Betterle, C

2014-06-01

Steroidogenic enzyme autoantibodies (SEAbs) are frequently present and are markers of autoimmune premature ovarian failure (POF) in females with autoimmune Addison's disease (AAD). The prevalence and significance of SEAbs in males with AAD have not yet been defined. We studied the prevalence of SEAbs in a large cohort of males with AAD and assessed the relationship between SEAbs positivity and testicular function. A total of 154 males with AAD (mean age 34 years) were studied. SEAbs included autoantibodies to steroid-producing cells (StCA), detected by immunofluorescence, and steroid 17α-hydroxylase (17α-OHAbs) and side chain cleavage enzyme (SCCAbs) measured by immunoprecipitation assays. Gonadal function was evaluated by measuring follicle-stimulating hormone (FSH), luteinizing hormone (LH), total testosterone (TT), sex hormone-binding globulin (SHGB), anti-müllerian hormone (AMH) and inhibin-B (I-B). Twenty-six males, 10 SEAbs((+)) and 16 SEAbs((-)), were followed-up for a mean period of 7·6 years to assess the behaviour of SEAbs and testicular function. SEAbs were found in 24·7% of males with AAD, with the highest frequency in patients with autoimmune polyendocrine syndrome type 1 (APS-1). The levels of reproductive hormones in 30 SEAbs((+)) males were in the normal range according to age and were not significantly different compared to 55 SEAbs((-)) males (P > 0·05). During follow-up, both SEAbs((+)) and SEAbs((-)) patients maintained normal testicular function. SEAbs were found with high frequency in males with AAD; however, they were not associated with testicular failure. This study suggests that the diagnostic value of SEAbs in males with AAD differs compared to females, and this may be related to the immunoprivileged status of the testis. © 2014 British Society for Immunology.

DOENÇA DE ADDISON: A DIFICULDADE DO DIAGNÓSTICO

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Clara Preto

2016-07-01

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.

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.

Poor quality of life, depressed mood, and memory impairment may be mediated by sleep disruption in patients with Addison's disease.

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Henry, Michelle; Wolf, Pedro S A; Ross, Ian L; Thomas, Kevin G F

2015-11-01

Standard replacement therapy for Addison's disease (AD) does not restore a normal circadian rhythm. In fact, hydrocortisone replacement in AD patients likely induces disrupted sleep. Given that healthy sleep plays an important role in improving quality of life, optimizing cognition, and ensuring affect regulation, the aim of this study was to investigate whether poor quality of life, mood alterations, and memory complaints reported by AD patients are associated with their disrupted sleep patterns. Sixty patients with AD and 60 matched healthy controls completed a battery of self-report questionnaires assessing perceived physical and mental health (Short-Form 36), mood (Beck Depression Inventory-II), sleep quality (Pittsburgh Sleep Quality Index), and cognition (Cognitive Failures Questionnaire). A latent variable model revealed that although AD had a significant direct effect on quality of life, the indirect effect of sleep was significantly greater. Furthermore, although AD had no direct effect on cognitive functioning, the indirect effect of sleep was significant. The overall model showed a good fit (comparative fit index = 0.91, root mean square of approximation = 0.09, and standardized root mean square residual = 0.05). Our findings suggest that disrupted sleep, and not the disease per se, may induce poor quality of life, memory impairment, and affect dysregulation in patients with AD. We think that improving sleep architecture may improve cognitive, affective, and physical functioning. Copyright © 2015 Elsevier Inc. All rights reserved.

Analysis of cellular and humoral immune responses against cytomegalovirus in patients with autoimmune Addison's disease.

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Edvardsen, Kine; Hellesen, Alexander; Husebye, Eystein S; Bratland, Eirik

2016-03-09

Autoimmune Addison's disease (AAD) is caused by multiple genetic and environmental factors. Variants of genes encoding immunologically important proteins such as the HLA molecules are strongly associated with AAD, but any environmental risk factors have yet to be defined. We hypothesized that primary or reactivating infections with cytomegalovirus (CMV) could represent an environmental risk factor in AAD, and that CMV specific CD8(+) T cell responses may be dysregulated, possibly leading to a suboptimal control of CMV. In particular, the objective was to assess the HLA-B8 restricted CD8(+) T cell response to CMV since this HLA class I variant is a genetic risk factor for AAD. To examine the CD8(+) T cell response in detail, we analyzed the HLA-A2 and HLA-B8 restricted responses in AAD patients and healthy controls seropositive for CMV antibodies using HLA multimer technology, IFN-γ ELISpot and a CD107a based degranulation assay. No differences between patients and controls were found in functions or frequencies of CMV-specific T cells, regardless if the analyses were performed ex vivo or after in vitro stimulation and expansion. However, individual patients showed signs of reactivating CMV infection correlating with poor CD8(+) T cell responses to the virus, and a concomitant upregulation of interferon regulated genes in peripheral blood cells. Several recently diagnosed AAD patients also showed serological signs of ongoing primary CMV infection. CMV infection does not appear to be a major environmental risk factor in AAD, but may represent a precipitating factor in individual patients.

Scott Foresman-Addison Wesley Elementary Mathematics. What Works Clearinghouse Intervention Report

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What Works Clearinghouse, 2010

2010-01-01

"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…

Multisteroid LC–MS/MS assay for glucocorticoids and androgens and its application in Addison's disease

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Methlie, Paal; Hustad, Steinar; Kellman, Ralf; Almås, Bjørg; Erichsen, Martina M; Husebye, Eystein S; Løvås, Kristian

2013-01-01

Objective Liquid chromatography–tandem mass spectrometry (LC–MS/MS) offers superior analytical specificity compared with immunoassays, but it is not available in many regions and hospitals due to expensive instrumentation and tedious sample preparation. Thus, we developed an automated, high-throughput LC–MS/MS assay for simultaneous quantification of ten endogenous and synthetic steroids targeting diseases of the hypothalamic–pituitary–adrenal axis and gonads. Methods Deuterated internal standards were added to 85 μl serum and processed by liquid–liquid extraction. Cortisol, cortisone, prednisolone, prednisone, 11-deoxycortisol, dexamethasone, testosterone, androstenedione and progesterone were resolved by ultra-high-pressure chromatography on a reversed-phase column in 6.1 min and detected by triple-quadrupole mass spectrometry. The method was used to assess steroid profiles in women with Addison's disease (AD, n=156) and blood donors (BDs, n=102). Results Precisions ranged from 4.5 to 10.1% relative standard deviations (RSD), accuracies from 95 to 108% and extraction recoveries from 60 to 84%. The method was practically free of matrix effects and robust to individual differences in serum composition. Most postmenopausal AD women had extremely low androstenedione concentrations, below 0.14 nmol/l, and median testosterone concentrations of 0.15 nmol/l (interquartile range 0.00–0.41), considerably lower than those of postmenopausal BDs (1.28 nmol/l (0.96–1.64) and 0.65 nmol/l (0.56–1.10) respectively). AD women in fertile years had androstenedione concentrations of 1.18 nmol/l (0.71–1.76) and testosterone concentrations of 0.44 nmol/l (0.22–0.63), approximately half of those found in BDs of corresponding age. Conclusion This LC–MS/MS assay provides highly sensitive and specific assessments of glucocorticoids and androgens with low sample volumes and is suitable for endocrine laboratories and research. Its utility has been

Scott Foresman-Addison Wesley Elementary Mathematics. What Works Clearinghouse Intervention Report. Updated

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What Works Clearinghouse, 2013

2013-01-01

"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…

Diagnosis application of ACTH radioimmunoassay in diseases of hypothalamus, hypophysis and adrenal axis

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Moreira, A.C.; Foss, M.C.; Iazigi, N.

1988-01-01

The diagnostic value of 900-1,100 am plasma ACTH radioimmunoassay were studied in 10 patients with Cushing's disease before and after treatment, three patients with Cushing's syndrome with adrenal tumours, one Nelson's syndrome patient; 13 patients with Addison's disease and 12 patients with hypo-pituitarism. Twenty-seven normal subjects were controls. The measurement of basal plasma ACTH gave good differentiation between: a. pituitary Cushing's disease from adrenal tumors; b. Addison's disease from hypo-pituitarism. However this assay has a limited value for the differentiation between Cushing's disease from normal subjects and it is often unhelpful in the differential diagnosis of hypo-pituitarism from normal subjects. (author)

Clinical implications of shared genetics and pathogenesis in autoimmune diseases

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Zhernakova, Alexandra; Withoff, Sebo; Wijmenga, Cisca

2013-01-01

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

Autoantibody response against NALP5/MATER in primary ovarian insufficiency and in autoimmune Addison's disease.

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Brozzetti, Annalisa; Alimohammadi, Mohammad; Morelli, Silvia; Minarelli, Viviana; Hallgren, Åsa; Giordano, Roberta; De Bellis, Annamaria; Perniola, Roberto; Kämpe, Olle; Falorni, Alberto

2015-05-01

NACHT leucine-rich-repeat protein 5 (NALP5)/maternal antigen that embryo requires (MATER) is an autoantigen in hypoparathyroidism associated with autoimmune polyendocrine syndrome type 1 (APS1) but is also expressed in the ovary. Mater is an autoantigen in experimental autoimmune oophoritis. The objectives of the study were to determine the frequency of NALP5/MATER autoantibodies (NALP5/MATER-Ab) in women with premature ovarian insufficiency (POI) and in patients with autoimmune Addison's disease (AAD) and to evaluate whether inhibin chains are a target for autoantibodies in POI. Autoantibodies against NALP5/MATER and inhibin chains-α and -βA were determined by radiobinding assays in 172 patients with AAD without clinical signs of gonadal insufficiency, 41 women with both AAD and autoimmune POI [steroidogenic cell autoimmune POI (SCA-POI)], 119 women with idiopathic POI, 19 patients with APS1, and 211 healthy control subjects. NALP5/MATER-Ab were detected in 11 of 19 (58%) sera from APS1 patients, 12 of 172 (7%) AAD sera, 5 of 41 (12%) SCA-POI sera, 0 of 119 idiopathic POI sera and 1 of 211 healthy control sera (P < .001). None of 160 POI sera, including 41 sera from women with SCA-POI and 119 women with idiopathic POI, and none of 211 healthy control sera were positive for inhibin chain-α/βA autoantibodies. NALP5/MATER-Ab are associated with hypoparathyroidism in APS1 but are present also in patients with AAD and in women with SCA-POI without hypoparathyroidism. Inhibin chains do not appear to be likely candidate targets of autoantibodies in human POI.

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

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Jaya Prakash Sahoo

2016-01-01

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.

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

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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.

Addison hastalığı ve gebelik

OpenAIRE

Bayrak, Z; Turan, V; Demirtaş, G; Erdoğan, M; Aşkar, N

2011-01-01

Primer adrenal yetmezlik nadir görülen bir endokrinolojik hastalıktır. Çoğu idiopatiktir. Tip 1 diabetes mellitus, hipertiroidizm, hipotiroidizm, pernisiyöz anemi gibi otoimmun hastalıklarla ilişkilidir. Yirmi sekiz yaşında 18 yıldır Addison hastalığı nedeni ile tedavi gören ve gebelik istemi olan olguyu gebeliğin ilk haftalarından doğuma ve puerperal döneme kadar takip ettik. Endokrinoloji kliniği ile birlikte takip ettiğimiz hastada kortikosteroid tedavisi ile antenatal ve postnatal dönemde...

A Case of Autoimmune Polyglandular Syndrome (APS) Type II with Hypothyroidism, Hypoadrenalism, and Celiac Disease - A Rare Combination.

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Lakhotia, Manoj; Pahadia, Hans Raj; Kumar, Harish; Singh, Jagdish; Tak, Sandeep

2015-04-01

Autoimmune Polyglandular syndrome (APS) are rare condition characterised by presence of immune dysfunction of two or more endocrine glands and other non-endocrine organs. APS is divided into 2 major subtypes based on age of presentation, pattern of disease combinations and mode of inheritance. APS 1(juvenile) usually manifest in early adolescence or in infancy. It is characterised by multiple endocrinal deficiency with mucocutaneous candidiasis and ectodermal dystrophy. Of the endocrine diseases, hypoparathyroidism form an important component followed by Addison's disease, type 1A diabetes, hypogonadism and thyroid disease. On the other hand APS II usually manifest in 3rd or 4th decade of life with female preponderance. Endocrine diseases commonly include autoimmune thyroid disease (graves or autoimmune thyroiditis), type 1A diabetes, and Addison's disease. Hypoparathyroidism is of rare occurrence and there is no mucocutaneous candidiasis. We report here a case of APS type II in a 29-year-old male who initially presented with hypothyroidism, which was soon followed by Addison's disease. The involvement of thyroid gland preceding the involvement of adrenal is of rare occurrence. The patient also had celiac disease which makes the combination further uncommon.

Impaired health-related quality of life in Addison's disease--impact of replacement therapy, comorbidities and socio-economic factors.

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Kluger, Nicolas; Matikainen, Niina; Sintonen, Harri; Ranki, Annamari; Roine, Risto P; Schalin-Jäntti, Camilla

2014-10-01

Patients with Addison's disease (AD) on conventional replacement therapy have impaired health-related quality of life (HRQoL). It is possible that lower hydrocortisone (HC) doses recommended by current guidelines could restore HRQoL. We compared HRQoL in AD patients treated according to current HC recommendations to that of the age- and gender-standardized general population. We assessed HRQoL in a cross-sectional setting with the 15D instrument in a Finnish AD cohort (n = 107) and compared the results with those of a large sample of general population (n = 5671). We examined possible predictors of HRQoL in AD. Within the patient group, HRQoL was also assessed by SF-36. Mean HC dose was 22 mg/d, corresponding to 12 ± 4 mg/m2. HRQoL was impaired in AD compared with the general population (15D score; 0·853 vs 0·918, P < 0·001). Within single 15D dimensions, discomfort and symptoms, vitality and sexual activity were most affected. Stepwise regression analysis demonstrated that Patient's Association membership (P = 0·02), female gender (P < 0·01), presence of other autoimmune or inflammatory comorbidity (P < 0·02), lower education (P < 0·02) and longer disease duration (P < 0·05) independently predicted impaired HRQoL, whereas replacement regimens, autoimmune-related comorbidities, total number of comorbidities or level of healthcare follow-up did not. In AD, HRQoL was impaired also as assessed by SF-36. HRQoL is significantly impaired in AD compared with the general population despite use of recommended HC doses. Patient's Association membership was the most significant predictor of impaired HRQoL. This finding should be explored in more detail in the future. © 2014 John Wiley & Sons Ltd.

The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease

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

2012-01-01

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

A Complex Interplay: Cognitive Behavioural Therapy for Severe Health Anxiety in Addison's Disease to Reduce Emergency Department Admissions.

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Daniels, Jo; Sheils, Elizabeth

2017-07-01

Addison's disease (AD) is a rare chronic illness caused by adrenocortical insufficiency. Due to the pivotal role of the regulating hormone cortisol in AD, there is a common symptom overlap between the presentation of anxiety and adrenal crisis. Previous literature has identified the prevalence of anxiety in endocrinological disorders, however there is a paucity of research examining the complex interplay between AD and anxiety. This paper describes a single case study of a patient with severe health anxiety and co-morbid AD. The aims of the study were to establish if standard cognitive behavioural therapy for health anxiety in AD can lead to a reduction in psychological distress, and whether this approach is an effective intervention for the reduction of Emergency Department admissions. A single case design was used, with pre- and post-measures of health anxiety, general anxiety and depression. Data on Emergency Department admissions prior to and following treatment were used to assess change in this domain. Reliable and clinically significant reductions were seen across all measures, from severe to sub-clinical levels. There was a complete amelioration of Emergency Department admissions in the 12 months following completion of treatment. This preliminary study provides a sound rationale for further research into AD complicated by anxiety. Findings support the clinical utility of the cognitive behavioural therapy model for complex presentations of AD, offering a potential treatment option where anxiety is elevated and interfering with self-management and leading to high levels of health service use.

Peripheral Blood Cells from Patients with Autoimmune Addison's Disease Poorly Respond to Interferons In Vitro, Despite Elevated Serum Levels of Interferon-Inducible Chemokines

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Bjånesøy, Trine; Hellesen, Alexander; Breivik, Lars; Bakke, Marit; Husebye, Eystein S.; Bratland, Eirik

2015-01-01

Autoimmune Addison's disease (AAD) is a disorder caused by an immunological attack on the adrenal cortex. The interferon (IFN)-inducible chemokine CXCL10 is elevated in serum of AAD patients, suggesting a peripheral IFN signature. However, CXCL10 can also be induced in adrenocortical cells stimulated with IFNs, cytokines, or microbial components. We therefore investigated whether peripheral blood mononuclear cells (PBMCs) from AAD patients display an enhanced propensity to produce CXCL10 and the related chemokine CXCL9, after stimulation with type I or II IFNs or the IFN inducer poly (I:C). Although serum levels of CXCL10 and CXCL9 were significantly elevated in patients compared with controls, IFN stimulated patient PBMC produced significantly less CXCL10/CXCL9 than control PBMC. Low CXCL10 production was not significantly associated with medication, disease duration, or comorbidities, but the low production of poly (I:C)-induced CXCL10 among patients was associated with an AAD risk allele in the phosphatase nonreceptor type 22 (PTPN22) gene. PBMC levels of total STAT1 and -2, and IFN-induced phosphorylated STAT1 and -2, were not significantly different between patients and controls. We conclude that PBMC from patients with AAD are deficient in their response to IFNs, and that the adrenal cortex itself may be responsible for the increased serum levels of CXCL10. PMID:25978633

Peripheral Blood Cells from Patients with Autoimmune Addison's Disease Poorly Respond to Interferons In Vitro, Despite Elevated Serum Levels of Interferon-Inducible Chemokines.

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Edvardsen, Kine; Bjånesøy, Trine; Hellesen, Alexander; Breivik, Lars; Bakke, Marit; Husebye, Eystein S; Bratland, Eirik

2015-10-01

Autoimmune Addison's disease (AAD) is a disorder caused by an immunological attack on the adrenal cortex. The interferon (IFN)-inducible chemokine CXCL10 is elevated in serum of AAD patients, suggesting a peripheral IFN signature. However, CXCL10 can also be induced in adrenocortical cells stimulated with IFNs, cytokines, or microbial components. We therefore investigated whether peripheral blood mononuclear cells (PBMCs) from AAD patients display an enhanced propensity to produce CXCL10 and the related chemokine CXCL9, after stimulation with type I or II IFNs or the IFN inducer poly (I:C). Although serum levels of CXCL10 and CXCL9 were significantly elevated in patients compared with controls, IFN stimulated patient PBMC produced significantly less CXCL10/CXCL9 than control PBMC. Low CXCL10 production was not significantly associated with medication, disease duration, or comorbidities, but the low production of poly (I:C)-induced CXCL10 among patients was associated with an AAD risk allele in the phosphatase nonreceptor type 22 (PTPN22) gene. PBMC levels of total STAT1 and -2, and IFN-induced phosphorylated STAT1 and -2, were not significantly different between patients and controls. We conclude that PBMC from patients with AAD are deficient in their response to IFNs, and that the adrenal cortex itself may be responsible for the increased serum levels of CXCL10.

[Multicentric hyaline vascular Castleman's disease. A POEMS type variant].

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Gracia-Ramos, Abraham Edgar; Cruz-Domínguez, María del Pilar; Vera-Lastra, Olga Lidia

2013-01-01

Castleman's disease is an atypical lymphoproliferative disorder which may be compatible with paraneoplastic manifestations of POEMS syndrome. a 53 year old man with a history of type 2 diabetes, hypothyroidism and Addison's disease presented with numbness and weakness in limbs, dyspnea, skin hardening, Raynaud's phenomenon, weight loss and fatigue. A physical exam showed tachypnea, generalized cutaneous hyperpigmentation and skin hardening of extremities, muscle weakness, hypoesthesia and hyporeflexia. Laboratory showed hyperprolactinemia, low testosterone, hypothyroidism and Addison's disease. Electrophoresis of proteins showed polyclonal hypergammaglobulinemia. Somatosensory evoked potentials reported peripheral neuropathy and severe axonal polyneuropathy by electromyography. Chest X-rays showed bilateral reticular infiltrates and mediastinal widening. An echocardiogram displayed moderate pulmonary hypertension. Skin biopsy had no evidence of scleroderma. CT reported axillar, mediastinal and retroperitoneal nodes. The mediastinal lesion biopsy reported hyaline vascular Castleman's disease, multicentric variety. He was treated with rituximab. the case meet criteria for multicentric hyaline vascular Castleman's disease, POEMS variant, treated with rituximab.

High-dose vitamin D in Addison's disease regulates T-cells and monocytes: A pilot trial.

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Penna-Martinez, Marissa; Filmann, Natalie; Bogdanou, Dimitra; Shoghi, Firouzeh; Huenecke, Sabine; Schubert, Ralf; Herrmann, Eva; Koehl, Ulrike; Husebye, Eystein S; Badenhoop, Klaus

2018-05-01

On the basis of the immunomodulatory actions of vitamin D (VD), we investigated the effects of high-dose VD therapy over a 3 mo period on the immune response in patients with Addison's disease (AD). This randomized, controlled, crossover trial included 13 patients with AD who received either cholecalciferol (4000 IU/d) for 3 mo followed by 3 mo placebo oil or the sequential alternative placebo followed by verum. Glucocorticoid replacement doses remained stable. The primary outcome measures were changes in 25-hydroxyvitamin D3 (25(OH)D 3 ) levels and immune cells including T helper cells (Th; CD3 + CD4 + ), late-activated Th cells (CD3 + CD4 + HLA-DR + ), regulatory T cells (CD3 + CD4 + CD25 bright CD127 dim/neg ), cytotoxic T cells (Tc; CD3 + CD8 + ), late-activated Tc cells (CD3 + CD8 + HLA-DR + ), and monocytes. The explorative analysis included the correlation of changes with VD-related gene polymorphisms and 21-hydroxylase antibody titers. Ten of 13 patients (77%) were VD deficient. Median 25(OH)D 3 concentrations increased significantly to 41.5 ng/ml (median changes: 19.95 ng/ml; P = 0.0005) after 3 mo of cholecalciferol treatment. Within the T-cells, only the late-activated Th (median changes: 1.6%; P = 0.02) and late-activated Tc cells (median changes: 4.05%; P = 0.03) decreased, whereas monocytes (median changes: 1.05%; P = 0.008) increased after VD therapy. T-cell changes were associated with two polymorphisms (CYP27B1-rs108770012 and VDR-rs10735810), but no changes in the 21-hydroxylase antibody titers were observed. Three months of treatment with cholecalciferol achieved sufficient 25(OH)D 3 levels and can regulate late-activated T-cells and monocytes in patients with AD. Explorative analysis revealed potential genetic contributions. This pilot trial provides novel insights about immunomodulation in AD. Copyright © 2017 Elsevier Inc. All rights reserved.

Addison's disease - the difficulty of diagnosis

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Clara Preto

2018-04-01

Full Text Available Introduction: Primary adrenal insufficiency is a rare disease, especially in pediatric age. Case report: We report the case of a teenager with astenia with four months’ evolution, causing repeated visits to the emergency department during the previous month due gastrointestinal symptoms and a ten kilograms weight loss. In admission the patient had a reasonable general condition, hydrated and without cutaneous hyperpigmentation. Laboratory results showed hyponatremia, increased levels of corticotropin with normal cortisol levels, increased levels of renin with decreased aldosterone levels and presence of antissuprarrenal antibodies, allowing the diagnosis of autoimmune primary adrenal insufficiency. The boy started treatment with hydrocortisone and fludrocortisone with favorable response. Discussion/conclusions: The diagnosis of Addison’s disease requires a high degree of suspicion due its unspecific symptomatology. This disease often presents gastrointestinal symptoms. Thus, towards a patient with hyponatremia accompanied by constitutional and gastrointestinal symptoms, we must always consider this diagnosis.

Cardiovascular Risk Factors in Patients with Addison's Disease: A Comparative Study of South African and Swedish Patients

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Ross, Ian Louis; Bergthorsdottir, Ragnhildur; Levitt, Naomi; Dave, Joel Alex; Schatz, Desmond; Marais, David; Johannsson, Gudmundur

2014-01-01

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. PMID:24603607

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.

CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles.

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Brønstad, Ingeborg; Skinningsrud, Beate; Bratland, Eirik; Løvås, Kristian; Undlien, Dag; Sverre Husebye, Eystein; Wolff, Anette Susanne Bøe

2014-12-01

Steroid 21-hydroxylase, encoded by CYP21A2, is the major autoantigen in autoimmune Addison's disease (AAD). CYP21A2 is located in the region of the HLA complex on chromosome 6p21.3, which harbours several risk alleles for AAD. The objective was to investigate whether CYP21A2 gene variants confer risk of AAD independently of other risk alleles in the HLA loci. DNA samples from 381 Norwegian patients with AAD and 340 healthy controls (HC) previously genotyped for the HLA-A, -B, -DRB1, and -DQB1 and MICA loci were used for genotyping of CYP21A2. Genotyping of CYP21A2 was carried out by direct sequencing. Linkage of CYP21A2 to the HLA loci was assessed using UNPHASED version 3.0.10 and PHASE version 2.1. Heterozygotes of the single-nucleotide polymorphisms (SNPs) rs397515394, rs6467, rs6474, rs76565726 and rs6473 were detected significantly more frequently in AAD patients compared with HC (P<0.005), but all SNPs were in a linkage disequilibrium (LD) with high-risk HLA-DRB1 haplotypes. rs6472C protected against AAD (odds ratio=0.15, 95% CI (0.08-0.30), P=3.8×10(-10)). This SNP was not in an LD with HLA loci (P=0.02), but did not increase protection when considering the effect of HLA-DRB1 alleles. Mutations causing congenital adrenal hyperplasia were found in heterozygosity in <1.5% of the cases in both groups. Genetic variants of CYP21A2 associated to AAD are in LD with the main AAD risk locus HLA-DRB1, and CYP21A2 does not constitute an independent susceptibility locus. © 2014 European Society of Endocrinology.

DHEA

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... multiple sclerosis (MS), low levels of steroid hormones (Addison's disease), depression, schizophrenia, chronic fatigue syndrome (CFS), muscle damage ... Sjögren's syndrome that causes symptoms including dry mouth. Addison's disease. Research about the effects of DHEA on Addison's ...

[Addison's disease : Primary adrenal insufficiency].

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Pulzer, A; Burger-Stritt, S; Hahner, S

2016-05-01

Adrenal insufficiency, a rare disorder which is characterized by the inadequate production or absence of adrenal hormones, may be classified as primary adrenal insufficiency in case of direct affection of the adrenal glands or secondary adrenal insufficiency, which is mostly due to pituitary or hypothalamic disease. Primary adrenal insufficiency affects 11 of 100,000 individuals. Clinical symptoms are mainly nonspecific and include fatigue, weight loss, and hypotension. The diagnostic test of choice is dynamic testing with synthetic ACTH. Patients suffering from chronic adrenal insufficiency require lifelong hormone supplementation. Education in dose adaption during physical and mental stress or emergency situations is essential to prevent life-threatening adrenal crises. Patients with adrenal insufficiency should carry an emergency card and emergency kit with them.

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

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

2015-01-01

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

A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison's Disease in Humans.

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Pazderska, Agnieszka; Oftedal, Bergithe E; Napier, Catherine M; Ainsworth, Holly F; Husebye, Eystein S; Cordell, Heather J; Pearce, Simon H S; Mitchell, Anna L

2016-11-01

Autoimmune Addison's disease (AAD) is a rare but highly heritable condition. The BACH2 protein plays a crucial role in T lymphocyte maturation, and allelic variation in its gene has been associated with a number of autoimmune conditions. We aimed to determine whether alleles of the rs3757247 single nucleotide polymorphism (SNP) in the BACH2 gene are associated with AAD. This case-control association study was performed in two phases using Taqman chemistry. In the first phase, the rs3757247 SNP was genotyped in 358 UK AAD subjects and 166 local control subjects. Genotype data were also available from 5154 healthy UK controls from the Wellcome Trust (WTCCC2) for comparison. In the second phase, the SNP was genotyped in a validation cohort comprising 317 Norwegian AAD subjects and 365 controls. The frequency of the minor T allele was significantly higher in subjects with AAD from the United Kingdom compared to both the local and WTCCC2 control cohorts (58% vs 45 and 48%, respectively) (local controls, P = 1.1 × 10 -4 ; odds ratio [OR], 1.68; 95% confidence interval [CI], 1.29-2.18; WTCCC2 controls, P = 1.4 × 10 -6 ; OR, 1.44; 95% CI, 1.23-1.69). This finding was replicated in the Norwegian validation cohort (P = .0015; OR, 1.41; 95% CI, 1.14-1.75). Subgroup analysis showed that this association is present in subjects with both isolated AAD (OR, 1.53; 95% CI, 1.22-1.92) and autoimmune polyglandular syndrome type 2 (OR, 1.37; 95% CI, 1.12-1.69) in the UK cohort, and with autoimmune polyglandular syndrome type 2 in the Norwegian cohort (OR, 1.58; 95% CI, 1.22-2.06). We have demonstrated, for the first time, that allelic variability at the BACH2 locus is associated with susceptibility to AAD. Given its association with multiple autoimmune conditions, BACH2 can be considered a "universal" autoimmune susceptibility locus.

Improvement of anthropometric and metabolic parameters, and quality of life following treatment with dual-release hydrocortisone in patients with Addison's disease.

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Giordano, Roberta; Guaraldi, Federica; Marinazzo, Elisa; Fumarola, Federica; Rampino, Alessia; Berardelli, Rita; Karamouzis, Ioannis; Lucchiari, Manuela; Manetta, Tilde; Mengozzi, Giulio; Arvat, Emanuela; Ghigo, Ezio

2016-02-01

In patients with Addison's disease (AD), a dual-release preparation of hydrocortisone (Plenadren, PLEN) has been demonstrated to maintain cortisol levels in a more physiological range than conventional glucocorticoid therapy, and to exert positive effects. This study aimed to assess variations of anthropometric, metabolic, and hormonal parameters in patients with AD after switching from conventional hydrocortisone (HC) treatment to PLEN. In nineteen AD patients (15 F and 4 M, age 27-65 years) treated with HC 20 mg/day thrice daily, body weight, BMI, waist circumference, fasting glucose, HbA1c, serum lipids, plasma renin activity, electrolytes, and blood pressure were evaluated at baseline, and 1, 3, 6, and 12 months after switching from HC to PLEN. At baseline, and after 1 and 12 months of PLEN, blood ACTH and cortisol (at 0800 h at fasting, and 30, 60, 90, 120, and 240 min after drug ingestion), and health-related quality of life (HRQoL), using 30-AddiQoL questionnaire, were evaluated. During PLEN, waist and serum lipid progressively decreased. After 12 months of PLEN, a significant difference was observed in waist circumference (P = 0.007), HbA1c (P = 0.002), total and LDL-cholesterol levels (P < 0.05). ACTH levels at 240 min and the area under the curve (AUC) were lower (P < 0.05) during PLEN than HC, while cortisol peaks and AUC were similar. 30-AddiQoL total score also improved (P = 0.04) during PLEN. In AD patients, PLEN reduces central adiposity, and improves glucose and metabolism parameters and HRQoL.

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

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Boag, Alisdair M; Christie, Michael R; McLaughlin, Kerry A; Syme, Harriet M; Graham, Peter; Catchpole, Brian

2015-01-01

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.

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.

Sexual dysfunctions in men affected by autoimmune Addison's disease before and after short-term gluco- and mineralocorticoid replacement therapy.

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Granata, Antonio; Tirabassi, Giacomo; Pugni, Valeria; Arnaldi, Giorgio; Boscaro, Marco; Carani, Cesare; Balercia, Giancarlo

2013-08-01

There is evidence suggesting that autoimmune Addison's disease (AD) could be associated with sexual dysfunctions probably caused by gluco- and mineralocorticoid deficiency; however, no study has yet treated this subject in males. To evaluate male sexuality and psychological correlates in autoimmune AD before and after gluco- and mineralocorticoid replacement therapy. Twelve subjects with a first diagnosis of autoimmune AD were studied before (baseline) and 2 months after (recovery phase) initiating hormone replacement therapy. Erectile function (EF), orgasmic function (OF), sexual desire (SD), intercourse satisfaction (IS), overall satisfaction (OS), depression, and anxiety were studied using a number of questionnaires (International Index of Erectile Function, Beck Depression Inventory, and Spielberger State-Trait Anxiety Inventory); clinical, biochemical, and hormone data were included in the analysis. At baseline, low values were found for EF, OF, SD, IS, and OS and high values for depression and anxiety; all of these parameters improved significantly in the recovery phase compared with baseline. EF variation between the two phases correlated significantly and positively with the variation of serum cortisol, urinary free cortisol, systolic blood pressure, and diastolic blood pressure and inversely with that of upright plasma renin activity. Multiple linear regression analysis using EF variation as dependent variable confirmed the relationship of the latter with variation of serum cortisol, urinary free cortisol, and upright plasma renin activity but not with variation of systolic and diastolic blood pressure. Our study showed that onset of autoimmune AD in males is associated with a number of sexual dysfunctions, all reversible after initiating replacement hormone therapy; cortisol and aldosterone deficiency seems to play an important role in the genesis of erectile dysfunction although the mechanism of their activity is not clear. © 2012 International Society

Addison's disease - the difficulty of diagnosis

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Preto, Clara; Correia, Joana; Pinheiro, Marina; Barroso, Fábio; Leite, Sara; Fernandes, Alexandre; Cardoso, Helena; Borges, Teresa

2018-01-01

Introduction: Primary adrenal insufficiency is a rare disease, especially in pediatric age. Case report: We report the case of a teenager with astenia with four months’ evolution, causing repeated visits to the emergency department during the previous month due gastrointestinal symptoms and a ten kilograms weight loss. In admission the patient had a reasonable general condition, hydrated and without cutaneous hyperpigmentation. Laboratory results showed hyponatremia, increased levels of corti...

Interleukin-2 and subunit alpha of its soluble receptor in autoimmune Addison's disease--an association study and expression analysis.

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Fichna, Marta; Żurawek, Magdalena; Bratland, Eirik; Husebye, Eystein S; Kasperlik-Załuska, Anna; Czarnocka, Barbara; Januszkiewicz-Lewandowska, Danuta; Nowak, Jerzy

2015-03-01

Autoimmune Addison's disease (AAD) results from T cell-mediated destruction of the adrenal cortex, commonly accompanied by autoantibodies to 21-hydroxylase (21OH). In order to gain insight into the obscure aetiology of this disease, we investigated the roles of the IL2 and IL2RA genes, encoding interleukin-2 and subunit alpha of its receptor (IL2Ra), respectively. The association of AAD with IL2 and IL2RA polymorphisms (rs6822844, rs2069762, rs3136534, rs11594656, rs3118470 and rs2104286) was tested in 223 patients and 672 healthy controls. Functional studies consisted of gene expression analysis in cultured PBMCs exposed to 21OH and evaluation of serum interleukin by ELISA assays. The frequency of the minor C allele of rs3136534 was significantly decreased in AAD subjects compared to controls (OR 0.71; 95%CI 0.561-0.887; p = 0.003). Only AAD cells responded to 21OH with an elevated IL2 and IL2RA mRNA synthesis (p = 0.004 and p = 0.009 versus controls, respectively), paralleled by increased supernatant levels of both cytokines (p = 0.031 and p = 0.001 versus controls). IL2 mRNA level in 21OH-stimulated AAD PBMCs correlated negatively with age (p = 0.036) and positively with serum antibodies to 21OH (p = 0.006). Carriers of the rs2104286 AA genotype demonstrated higher IL2RA mRNA (p = 0.022) and soluble IL2Ra secretion (p = 0.029) upon 21OH stimulation. Serum interleukin-2 in AAD subjects was significantly higher compared to controls (4.61 ± 4.3 versus 1.71 ± 3.2 pg/mL, p < 0.001), whereas sIL2Ra levels remained similar in both groups (p = 0.885). In conclusion, the study reveals an association between AAD and IL2 locus. It confirms specific 21OH-directed reactivity of the peripheral AAD lymphocytes, which display increased synthesis of interleukin-2 and sIL2Ra.

HLA similarities indicate shared genetic risk in 21-hydroxylase autoantibody positive South African and United States Addison's disease.

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Ross, I L; Babu, S; Armstrong, T; Zhang, L; Schatz, D; Pugliese, A; Eisenbarth, G; Baker Ii, P

2014-10-01

Genetic similarities between patients from the United States and South African (SA) Addison's Disease (AD) strengthen evidence for genetic association. SA-AD (n = 73), SA healthy controls (N = 78), and US-AD patients (N = 83) were genotyped for DQA1, DQB1, DRB1, and HLA-B alleles. Serum was tested for the quantity of 21OH-AA and IFNα-AA at the Barbara Davis Center. Although not as profound as in US-AD, in SA-AD 21OH-AA + subjects the predominantly associated risk haplotypes were DRB1*0301-DQB1*0201 (DR3), DRB1*04xx-DQB1*0302 (DR4), and the combined DR3/4 genotype. DQB1*0302 associated DRB1*04xx haplotypes conferred higher risk than those DRB1*04xx haplotypes associated with other DQB1 alleles. We found negative association in 21OH-AA + SA-AD for DQA1*0201-DQB1*0202 and DQA1*0101-DQB1*0501 vs SA controls, and positive association for DQA1*0401-DQB1*0402 vs US-AD. Apart from the class II DR3 haplotype, HLA-B8 did not have an independent effect; however together DR3 and HLA-B8 conferred the highest risk vs 21OH-AA negative SA-AD and SA-controls. HLA-B7 (often with DR4) conferred novel risk in 21OH-AA + SA-AD vs controls. This study represents the first comparison between South African and United States AD populations utilizing genotyping and serology performed at the same center. SA-AD and US-AD 21OH-AA + patients share common HLA risk haplotypes including DR4 (with HLA-B7) and DR3 (with HLA-B8), strengthening previously described HLA associations and implicating similar genetic etiology. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Pernicious Anemia

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... glands, such as Addison's disease, type 1 diabetes, Graves' disease, or vitiligo. Research suggests a link may exist ... disorders (such as Addison's disease, type 1 diabetes, Graves' disease, or vitiligo). Research suggests a link may exist ...

24-hour urinary aldosterone excretion test

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Aldosterone - urine; Addison disease - urine aldosterone; Cirrhosis - serum aldosterone ... Laxative abuse Lower than normal levels may indicate Addison disease , a disorder in which the adrenal glands do ...

Acute adrenal crisis

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... 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 ...

Cortisol - urine

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... response Different diseases, such as Cushing syndrome and Addison disease , can lead to either too much or too ... disorders A lower than normal level may indicate: Addison disease in which the adrenal glands do not produce ...

Circadian hormone profiles and insulin sensitivity in patients with Addison's disease: a comparison of continuous subcutaneous hydrocortisone infusion with conventional glucocorticoid replacement therapy.

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Björnsdottir, Sigridur; Øksnes, Marianne; Isaksson, Magnus; Methlie, Paal; Nilsen, Roy M; Hustad, Steinar; Kämpe, Olle; Hulting, Anna-Lena; Husebye, Eystein S; Løvås, Kristian; Nyström, Thomas; Bensing, Sophie

2015-07-01

Conventional glucocorticoid replacement therapy in patients with Addison's disease (AD) is unphysiological with possible adverse effects on mortality, morbidity and quality of life. The diurnal cortisol profile can likely be restored by continuous subcutaneous hydrocortisone infusion (CSHI). The aim of this study was to compare circadian hormone rhythms and insulin sensitivity in conventional thrice-daily regimen of glucocorticoid replacement therapy with CSHI treatment in patients with AD. An open, randomized, two-period, 12-week crossover multicentre trial in Norway and Sweden. Ten Norwegian patients were admitted for 24-h sampling of hormone profiles. Fifteen Swedish patients underwent euglycaemic-hyperinsulinaemic clamp. Thrice-daily regimen of oral hydrocortisone (OHC) and CSHI treatment. We measured the circadian rhythm of cortisol, adrenocorticotropic hormone (ACTH), growth hormone (GH), insulin-like growth factor-1, (IGF-1), IGF-binding protein-3 (IGFBP-3), glucose, insulin and triglycerides during OHC and CSHI treatment. Euglycaemic-hyperinsulinaemic clamp was used to assess insulin sensitivity. Continuous subcutaneous hydrocortisone infusion provided a more physiological circadian cortisol curve including a late-night cortisol surge. ACTH levels showed a near normal circadian variation for CSHI. CSHI prevented a continuous decrease in glucose during the night. No difference in insulin sensitivity was observed between the two treatment arms. Continuous subcutaneous hydrocortisone infusion replacement re-established a circadian cortisol rhythm and normalized the ACTH levels. Patients with CSHI replacement had a more stable night-time glucose level compared with OHC without compromising insulin sensitivity. Thus, restoring night-time cortisol levels might be advantageous for patients with AD. © 2015 John Wiley & Sons Ltd.

Sodium Blood Test: MedlinePlus Lab Test Information

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... levels, it may indicate: Diarrhea Vomiting Kidney disease Addison disease , a condition in which your body's adrenal glands ... Version [Internet]. Kenilworth (NJ): Merck & Co. Inc.; c2017. Addison Disease [cited 2017 Apr 2]; [about 2 screens]. Available ...

Positive autoantibodies to ZnT8 indicate elevated risk for additional autoimmune conditions in patients with Addison's disease.

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Fichna, Marta; Rogowicz-Frontczak, Anita; Żurawek, Magdalena; Fichna, Piotr; Gryczyńska, Maria; Zozulińska-Ziółkiewicz, Dorota; Ruchała, Marek

2016-07-01

Autoimmune Addison's disease (AAD) associates with exceptional susceptibility to develop other autoimmune conditions, including type 1 diabetes (T1D), marked by positive serum autoantibodies to insulin (IAA), glutamic acid decarboxylase (GADA) and insulinoma-associated protein 2 (IA-2A). Zinc transporter 8 (ZnT8) is a new T1D autoantigen, encoded by the SLC30A8 gene. Its polymorphic variant rs13266634C/T seems associated with the occurrence of serum ZnT8 antibodies (ZnT8A). This study was designed to determine the prevalence of serum ZnT8A and their clinical implication in 140 AAD patients. Other beta cell and thyroid-specific autoantibodies were also investigated, and ZnT8A results were confronted with the rs13266634 genotype. ZnT8A were detectable in 8.5 %, GADA in 20.7 %, IA-2A in 5.7 %, IAA in 1.6 % and various anti-thyroid antibodies in 7.1-67.8 % individuals. Type 1 diabetes was found in 10 % AAD patients. ZnT8A were positive in 57.1 % of T1D patients and 3.4 % non-diabetic AAD. Analysis of ZnT8A enabled to identify autoimmunity in two (14.3 %) T1D individuals previously classified as autoantibody-negative. ZnT8A-positive patients revealed significantly higher number of autoimmune conditions (p < 0.001), increased prevalence of T1D (p < 0.001) and other beta cell-specific autoantibodies. Carriers of the rs13266634 T-allele displayed increased frequency (p = 0.006) and higher titres of ZnT8A (p = 0.002). Our study demonstrates high incidence of ZnT8A in AAD patients. ZnT8A are associated with coexisting T1D and predictive of T1D in non-diabetic subjects. Moreover, positive ZnT8A in AAD indicate elevated risk for additional autoimmune conditions. Autoantibodies to beta cell antigens, comprising ZnT8, could be included in routine screening panels in AAD.

Mechanisms in endocrinology: vitamin D as a potential contributor in endocrine health and disease.

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Muscogiuri, Giovanna; Mitri, Joanna; Mathieu, Chantal; Badenhoop, Klaus; Tamer, Gonca; Orio, Francesco; Mezza, Teresa; Vieth, Reinhold; Colao, Annamaria; Pittas, Anastassios

2014-09-01

It has been suggested that vitamin D may play a role in the pathogenesis of several endocrine diseases, such as hyperparathyroidism, type 1 diabetes (T1DM), type 2 diabetes (T2DM), autoimmune thyroid diseases, Addison's disease and polycystic ovary syndrome (PCOS). In this review, we debate the role of vitamin D in the pathogenesis of endocrine diseases. Narrative overview of the literature synthesizing the current evidence retrieved from searches of computerized databases, hand searches and authoritative texts. Evidence from basic science supports a role for vitamin D in many endocrine conditions. In humans, inverse relationships have been reported not only between blood 25-hydroxyvitamin D and parathyroid hormone concentrations but also with risk of T1DM, T2DM, and PCOS. There is less evidence for an association with Addison's disease or autoimmune thyroid disease. Vitamin D supplementation may have a role for prevention of T2DM, but the available evidence is not consistent. Although observational studies support a potential role of vitamin D in endocrine disease, high quality evidence from clinical trials does not exist to establish a place for vitamin D supplementation in optimizing endocrine health. Ongoing randomized controlled trials are expected to provide insights into the efficacy and safety of vitamin D in the management of endocrine disease. © 2014 European Society of Endocrinology.

Orthostatic Hypotension

Science.gov (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 ...

What Are Some Types of Adrenal Gland Disorders?

Science.gov (United States)

... until the adrenal glands start functioning normally again. Addison's Disease This rare disorder develops when the adrenal glands ... not make enough cortisol. In most cases of Addison's disease, the body also doesn't make enough of ...

Incidence, prevalence and seasonal onset variation of Addison's disease among persons with type 1 diabetes mellitus: nationwide, matched cohort studies.

Science.gov (United States)

Chantzichristos, Dimitrios; Persson, Anders; Eliasson, Björn; Miftaraj, Mervete; Franzén, Stefan; Svensson, Ann-Marie; Johannsson, Gudmundur

2018-01-01

We determined the incidence and prevalence of Addison's disease (AD) among persons with or without type 1 diabetes mellitus (T1DM) in nationwide, matched cohort studies. Persons with T1DM were identified from the Swedish National Diabetes Register and each was matched for age, sex, year and county to five controls randomly selected from the general population. Persons with AD were identified from the Swedish National Inpatient Register. Baseline demographics and seasonal onset variation of AD were presented by descriptive statistics. Prevalence and incidence were estimated by proportions and incidence rates, respectively. Times to AD were analyzed using the Cox proportional hazard model. Between 1998 and 2013, 66 persons with T1DM were diagnosed with AD at a mean age (s.d.) of 36.4 (13.0) years among 36 514 persons with T1DM, while 32 were diagnosed with AD at a mean age of 42.7 (15.2) years among 182 570 controls. The difference in mean age at diagnosis of AD between the groups was 6.3 years ( P value = 0.036). The incidence of AD for a person with or without T1DM was therefore 193 and 18 per million person-years, respectively. The adjusted relative risk increase of developing AD in T1DM was 10.8 (95% CI: 7.1-16.5). The highest incidence of AD was observed during February-March and September-October. The prevalence of AD in persons with or without T1DM in December 2012 was 3410 and 208 per million, respectively. The odds ratio for AD in persons with T1DM vs controls was 16.5 (95% CI: 11.1-24.5). The risk to develop AD among persons with T1DM is more than 10 times higher than in persons without T1DM. Persons with T1DM develop AD at a younger age. The incidence of AD may have a seasonal pattern. © 2018 European Society of Endocrinology.

ACTH (cosyntropin) stimulation test

Science.gov (United States)

... occurs when there is not enough cortisol) Addison disease (adrenal glands do not produce enough cortisol) Hypopituitarism (pituitary gland ... A.M. Editorial team. Addison Disease Read more Adrenal Gland Disorders Read more Pituitary Disorders Read more A.D. ...

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.

2015-01-01

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

Endocrine manifestations in celiac disease.

Science.gov (United States)

Freeman, Hugh James

2016-10-14

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.

Addison disease’s in puppy, congenital adrenal hyperplasia (adrenal 21 alpha hydroxilase deficiency) and Hypoparathyroidism in Dogs

OpenAIRE

Castillo, Víctor; Ortemberg, L.

2009-01-01

La enfermedad de Addison (EA), la hiperplasia adrenal congénita (HAC) por déficit de 21 αhidroxilasa adrenal y el hipoparatiroidismo (HoPTH) son de diagnóstico poco frecuente, representando el 3% (EA) y 0,5% (tanto HAC como HoPTH) de las enfermedades endócrinas atendidas. Se describen 1 caso de EA congénito (collie de 6 meses de edad), 2 casos de HAC (una caniche toy y una labradora, ambas de 2 años) y 2 de HoPTH (cocker spaniel de 11 meses y una mestiza de 7 años). Por la signología clínica ...

Computed tomography of the adrenal glands in Addision's disease

International Nuclear Information System (INIS)

Rzymski, K.; Sobieszczyk, S.; Kosowicz, J.; Akademia Medyczna, Poznan

1984-01-01

In 30 cases of chronic adrenal insufficiency (Addison's disease) CT of the adrenal glands was performed using a fourth generation scanner and a 2 mm slice thickness. Adrenal glands were visualized in all the cases. In 26 patients the adrenals were atrophied; the adrenal shape was abnormal in 21 patients. In 15 patients CT disclosed calcifications in one or both glands, which were particularly frequent in patients over the age of 50. Atrophy of adrenal glands was of high occurrence in cases of autoimmune origin. (orig.) [de

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

OpenAIRE

Sara Ferreira; Margarida Freitas-Silva

2017-01-01

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.

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

Directory of Open Access Journals (Sweden)

Sara Ferreira

2017-09-01

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.

The contribution of online peer-to-peer communication among patients with adrenal disease to patient-centered care.

Science.gov (United States)

Kauw, Dirkjan; Repping-Wuts, Han; Noordzij, Alida; Stikkelbroeck, Nike; Hermus, Ad; Faber, Marjan

2015-02-25

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. Our aim was to analyze the purposes of online patient-to-patient forum conversations, within the context of patient-centered care. For this study a consecutive sample of 300 questions ("threads") from the past 3.5 years was selected from the forum. The content of these patient-driven questions was analyzed based on the dimensions of patient-centeredness of the Picker Institute. This analysis was performed using ATLAS.ti. From the 390 questions analyzed, 80.8% (N=315) were intended to gain more information about the disease, the treatment, and to verify if other patients had similar complaints. To a much lesser extent (38/390, 9.7%), questions expressed a call for emotional support. Patients answered primarily by giving practical tips to fellow patients and to share their own experiences. On an online patient forum for Cushing's syndrome and Addison's disease, patients appear to primarily gain knowledge and, to a lesser extent, emotional support from their peers. This experience-based knowledge has become a very important information source. As such, patients can make a substantial contribution to the creation of patient-centered care if this knowledge is integrated into the care provided by health care professionals.

Psychosocial Stress and Addison's Disease

OpenAIRE

Wolf, Jutta Manuela

2006-01-01

Die Psychoneuroimmunologie beschäftigt sich unter anderem mit der Frage, ob und unter welchen Bedingungen psychosozialer Stress krank macht. Humanstudien, die dieser Frage nachgehen, können dabei meist nur korrelative Zusammenhänge aufdecken. Um trotzdem Aussagen zu Mechanismen, Ursache-Wirkungsbeziehungen und klinische Relevanz treffen zu können, muss z.B. auf Befunde aus der Tierforschung oder aus in vitro-Studien zurückgegriffen werden. Ziel der vorliegenden Arbeit war es, eine Methode zu ...

Addison's disease presenting with perimyocarditis.

Science.gov (United States)

Baranski Lamback, Elisa; Morandi, Grazia; Rapti, Eleni; Christov, Georgi; Brogan, Paul A; Hindmarsh, Peter

2018-01-26

Polyglandular autoimmune syndrome (PGA) and eosinophilic granulomatosis with polyangiitis (EGPA) do not seem to represent a coincidental association. A case of a 15-year-old boy is reported who presented with severe systemic inflammation, perimyocarditis and cardiogenic shock, in whom EGPA was initially suspected and later diagnosed with autoimmune adrenalitis with PGA. The severity of the systemic inflammation and perimyocarditis suggests a more widespread autoimmune-mediated process. Autoimmune adrenal insufficiency should be considered in all cases of pericarditis and perimyocarditis, especially when the severity of clinical manifestations exceeds the expected for the severity of the cardiac findings, as timely identification and prompt treatment may be life-saving.

Adrenal Insufficiency and Addison's Disease

Science.gov (United States)

... These conditions can lead to an adrenal crisis. Pregnancy Women with adrenal insufficiency who become pregnant are ... can benefit from following a diet rich in sodium. A health care provider or a dietitian can ...

DISSEMINATED HISTOPLASMOSIS DIAGNOSED ON BONE ...

African Journals Online (AJOL)

2009-12-02

Dec 2, 2009 ... Histoplasmosis, caused by two varieties of dimorphic fungi, Histoplasma ... from asymptomatic primary infection to disseminated disease in immunocompromised .... Addison's disease) tongue, gingivae, buccal mucosa,.

Genetics Home Reference: triple A syndrome

Science.gov (United States)

... Adrenal Insufficiency and Addison's Disease National Institute of Neurological Disorders and Stroke: Dysautonomia Educational Resources (5 links) Boston Children's Hospital: Achalasia Disease InfoSearch: Achalasia Addisonianism Alacrimia Syndrome ...

Fisiopatología de la expresividad "psicosomática" del Morbus Basedow y del de Addison

Directory of Open Access Journals (Sweden)

J. Gurría

1949-08-01

Full Text Available El título de este trabajo pretende, además de consignar su objetivo, señalar una insuficiencia: la de la patología psicosomática, impregnada, desde su origen, por conceptos psicoanalíticos que han dado lugar a explicaciones demasiado subjetivistas y alejadas de las ideas fisiopatológicas no superadas, al menos clínicamente, por la moderna versión norteamericana de las antiguas y equilibradas doctrinas socráticas de integración. Perseguimos en esta comunicación dos propósitos: contrastrar las concepciones psicosomáticas y fisiopatológicas del Basedow y de la insuficiencia suprarrenal, en el intento de poner de manifiesto la insuficiencia del criterio psicosomático; y, estudiar la fisiopatología de los principales síntomas del Basedow y del Addison que se expresan por la doble vertiente somatopsíquica. Estos síntomas serán, en el hipertiroidismo, la hiperemotividad y, singularmente, la prisa; y en la insuficiencia suprarrenal, la astenia.

Immunogenetics of type 1 diabetes mellitus

African Journals Online (AJOL)

EL-HAKIM

to other autoimmune diseases, the etiology of T1D remains obscure but ..... T1D, type 1 diabetes; AIT, autoimmune thyroiditis; CD, celiac disease; AD, Addison's disease. Table 5. .... (GAD65Ab) in prediabetic adults developing diabetes.

hCG Test (Pregnancy Test)

Science.gov (United States)

... Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer Disease Anemia Angina Ankylosing Spondylitis Anthrax ... Patient Resources For Health Professionals Subscribe Search hCG Pregnancy Send Us Your Feedback Choose Topic At a ...

21 CFR 862.1665 - Sodium test system.

Science.gov (United States)

2010-04-01

... excretion of large amounts of dilute urine, accompanied by extreme thirst), adrenal hypertension, Addison's disease (caused by destruction of the adrenal glands), dehydration, inappropriate antidiuretic hormone secretion, or other diseases involving electrolyte imbalance. (b) Classification. Class II. ...

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 ...

Orthostatic Hypotension (Postural Hypotension)

Science.gov (United States)

... standing up. Endocrine problems. Thyroid conditions, adrenal insufficiency (Addison's disease) and low blood sugar (hypoglycemia) can cause orthostatic hypotension, as can diabetes — which can damage ...

Celiac disease and endocrine autoimmunity.

Science.gov (United States)

Kahaly, George J; Schuppan, Detlef

2015-01-01

Celiac disease (CD) is a small-intestinal inflammatory disease that is triggered by the ingestion of the storage proteins (gluten) of wheat, barley and rye. Endocrine autoimmunity is prevalent in patients with CD and their relatives. The genes that predispose to endocrine autoimmune diseases, e.g. type 1 diabetes, autoimmune thyroid diseases, and Addison's disease, i.e. DR3-DQ2 and DR4-DQ8, are also the major genetic determinants of CD, which is the best understood HLA-linked disease. Thus, up to 30% of first-degree relatives both of patients with CD and/or endocrine autoimmunity are affected by the other disease. In CD, certain gluten proteins bind with high affinity to HLA-DQ2 or -DQ8 in the small-intestinal mucosa, to activate gluten-specific T cells which are instrumental in the destruction of the resorptive villi. Here, the autoantigen tissue transglutaminase increases the T cell response by generating deamidated gluten peptides that bind more strongly to DQ2 or DQ8. Classical symptoms such as diarrhea and consequences of malabsorption like anemia and osteoporosis are often absent in patients with (screening-detected) CD, but this absence does not significantly affect these patients' incidence of endocrine autoimmunity. Moreover, once autoimmunity is established, a gluten-free diet is not able to induce remission. However, ongoing studies attempt to address how far a gluten-free diet may prevent or retard the development of CD and endocrine autoimmunity in children at risk. The close relationship between CD and endocrine autoimmunity warrants a broader immune genetic and endocrine screening of CD patients and their relatives. © 2015 S. Karger AG, Basel.

Codeine

Science.gov (United States)

... blood pressure; Addison's disease (condition in which the body does not make enough of certain natural substances); or thyroid, pancreatic, intestinal, gallbladder, liver, or kidney disease.you should know that this medication may decrease fertility in men and women. Talk to your doctor ...

Aldosterone blood test

Science.gov (United States)

... Addison disease - serum aldosterone; Primary hyperaldosteronism - serum aldosterone; Bartter syndrome - serum aldosterone ... normal level of aldosterone may be due to Bartter syndrome (group of rare conditions that affect the kidneys) ...

Adrenal Gland Disorders

Science.gov (United States)

... Cushing's syndrome, there's too much cortisol, while with Addison's disease, there is too little. Some people are born unable to make enough cortisol. Causes of adrenal gland disorders include Genetic mutations Tumors ...

Hydromorphone Rectal

Science.gov (United States)

... the thyroid gland produces less hormone than normal); Addison's disease (condition in which the adrenal gland produces less hormone than normal); any condition that causes difficulty urinating such as an enlarged prostate (a ...

Ammonia Test

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... ammonia, but both can damage the eyes, skin, respiratory tract, and, if swallowed, the mouth, throat, and ...

First Trimester Down Syndrome Screen

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... and can be associated with congenital heart defects, respiratory and hearing problems, leukemia , and thyroid disorders . Many ...

Second Trimester Maternal Serum Screening

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... and can be associated with congenital heart defects, respiratory and hearing problems, leukemia , and thyroid disorders . Many ...

AFB (Acid-Fast Bacillus) Smear and Culture

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... to produce sputum, a health practitioner may collect respiratory samples using a procedure called a bronchoscopy. Bronchoscopy ...

Amniotic Fluid Analysis

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... surfactants, a newborn may develop life-threatening neonatal respiratory distress syndrome (RDS). Tests include: Lamellar body count ...

BMP (Basic Metabolic Panel)

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... as kidney failure, insulin shock or diabetic coma, respiratory distress, or heart rhythm changes. What does the ...

Pertussis Tests

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... tested? Pertussis, commonly called whooping cough, is a respiratory infection caused by the bacteria Bordetella pertussis . These ...

Alpha-1 Antitrypsin Test

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... deficiency. AAT levels may be decreased in neonatal respiratory distress syndrome and in conditions that cause a ...

Dengue Fever Testing

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... person-to-person contact or by exposure to respiratory secretions. The virus is spread when a mosquito ...

CSF Analysis

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... rivers. Infection occurs when the parasite enters the respiratory system through the nose of a person swimming ...

Parvovirus B19 Test

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... or "erythema infectiosum." The virus is found in respiratory droplets during an infection and is easily transmitted ...

Strep Throat Test

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... spreads from person-to-person through contact with respiratory secretions that contain the streptococcal bacteria. During influenza ...

Case Report: Systemic Lupus Erythematosus Presenting as Acute ...

African Journals Online (AJOL)

We hereby report a case of a 20 year‑old female who presented to us in an acute hypoadrenal state and was found to have Systemic lupus erythematosus with renal involvement. Patient was successfully managed with steroids and improved clinically. Keywords: Addison's disease, Autoimmune diseases, Systemic lupus ...

Celiac disease symptoms in a female collegiate tennis player: a case report.

Science.gov (United States)

Leone, James E; Gray, Kimberly A; Massie, John E; Rossi, Jennifer M

2005-01-01

To present the case of a collegiate tennis player with celiac disease symptoms. Celiac disease is a common intestinal disorder that is often confused with other conditions. It causes severe intestinal damage manifested by several uncomfortable signs and symptoms. Failure by the sports medicine staff to recognize symptoms consistent with celiac disease and treat them appropriately can have deleterious consequences for the athlete. Irritable bowel syndrome, Crohn disease, Addison disease, lupus erythematosus, juvenile rheumatoid arthritis, lactose intolerance, herpes zoster, psychogenic disorder (depression), fibromyalgia, complex regional pain syndrome, hyperthyroidism, anemia, type I diabetes. The athlete underwent a series of blood and allergen tests to confirm or refute a diagnosis of celiac disease. When celiac disease was suspected, dietary modifications were made to eliminate all wheat-based and gluten-based products from the athlete's diet. The athlete was able to fully compete in a competitive National Collegiate Athletic Association Division I tennis program while experiencing the debilitating effects associated with celiac disease. The immediacy of symptom onset was notable because the athlete had no history of similar complaints. Celiac disease is a potentially life-threatening condition that affects more people than reported. A properly educated sports medicine staff can help to identify symptoms consistent with celiac disease early, so damage to the intestine is minimized. Prompt recognition and appropriate management allow the athlete to adjust the diet accordingly, compete at a high-caliber level, and enjoy a healthier quality of life.

Pleural Fluid Analysis Test

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... Less Related Images View More × Diagram of the Respiratory System, including the Lungs. Image credit: National Cancer ...

Pericardial Fluid Analysis

Science.gov (United States)

... of Conditions Not Listed? Not Listed? Acidosis and Alkalosis Adrenal Insufficiency and Addison Disease Alcoholism Allergies Alzheimer ... the body. For example, pericarditis may follow a respiratory infection or a chest cold. Bleeding – bleeding disorders ...

DHEA-sulfate test

Science.gov (United States)

... DHEA sulfate may be due to: Adrenal gland disorders that produce lower than normal amounts of adrenal hormones, including adrenal insufficiency and Addison disease The pituitary gland not producing normal amounts of its hormones ( hypopituitarism ) ...

Dietary iron rural blacks overload In southern African

African Journals Online (AJOL)

1990-09-15

Sep 15, 1990 ... suggest that iron overload from any cause may predispose to infection7 and there are .... consumption and acute inflammatory diseases. However, it ..... Addison GM, Beamish MR, Hales C ',Hodgkins M, Jacobs A, Llewellin P.

Effect of colchicine on mitotic polyploidization and morphological ...

African Journals Online (AJOL)

Ajai

2012-05-15

May 15, 2012 ... to diseases and insects and reduction in fertility of flowering plants ..... soaking duration was noticed to cause the treated seeds to give low height .... Addison-. Wesley, London. Stadler J, Phillips RL, Leonard M (1989).Mitotic ...

Bilateral primary adrenocortical carcinoma complicated by Addisonian crisis: case report

International Nuclear Information System (INIS)

Foster, M.; Nolan, R.L.; Hong, H.H.

2001-01-01

Primary adrenal carcinoma is a rare malignancy. Primary adrenal insufficiency (i.e. Addison's disease) is a rare complication of bilateral infiltration. We report a case of primary bilateral adrenal carcinoma complicated by an episode of primary adrenal insufficiency. (author)

Browse Title Index

African Journals Online (AJOL)

Items 251 - 300 of 391 ... ... with leaf-tip die back disease of oil palm (Elaeis Guineensis) seedlings in Ghana, Abstract ... Preliminary studies on the possible cause of death central spear of oil ... AAE Andam, EA Amankwah, ECK Addison, EK Nani.

Potassium test

Science.gov (United States)

... hyperkalemia ) may be due to: Addison disease (rare) Blood transfusion Certain medicines Crushed tissue injury Hyperkalemic periodic paralysis ... released. This may cause a falsely high result. Alternative Names Hypokalemia test; K+ Images Blood test References Mount DB. Disorders of potassium balance. ...

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.

2012-01-01

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

Browse Title Index

African Journals Online (AJOL)

Items 1 - 50 of 400 ... Vol 2, No 2 (2003), Addison's disease: a case report, Abstract PDF. CO Alebiosu, O Odusan. Vol 6, No 4 (2007), Adenovirus Infection in Children with Diarrhea Disease in Northwestern Nigeria, Abstract PDF. M Aminu, AA Ahmad, JU Umoh, MC de Beer, MD Esona, AD Steele. Vol 7, No 1 (2008), Adnexal ...

Browse Title Index

African Journals Online (AJOL)

Items 51 - 100 of 390 ... D Addison, V Singh, K Okyere-Asante, H Okafor. Vol 46, No 3 (2005), Causes of job dissatisfaction among doctors at a ... Vol 54, No 1 (2013), Childhood acquired heart diseases in Jos, north central Nigeria, Abstract.

Journal of Endocrinology, Metabolism and Diabetes of South Africa ...

African Journals Online (AJOL)

An unusual coexistence of Addison's disease and phaeochromocytoma · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. H Atmaca, F Gokosmanoglu, EK Kan, GC Ecemis, CT Bahadir, 164-166. http://dx.doi.org/10.1080/22201009.2013.10872324 ...

Journal of Endocrinology, Metabolism and Diabetes of South Africa ...

African Journals Online (AJOL)

Diagnosis and management of Addison's disease: insights gained from a large South African cohort · EMAIL FREE FULL TEXT EMAIL FREE FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. IL Ross, NS Levitt, 86-92. http://dx.doi.org/10.1080/22201009.2011.10872256 ...

Inappropriate Antidiuretic Hormone Secretion

African Journals Online (AJOL)

1974-06-08

Jun 8, 1974 ... with Addison's disease, diarrhoea or salt-losing nephritis. (asymptomatic hyponatraemia).~ Schwartz et al.3 stud;ed two patients with anaplastic bronchus carcinoma and hyponatraemia in 1957, and they suggested that there was an inappropriate secretion of antidiuretic hormone (ADH). It is now well ...

Author Details

African Journals Online (AJOL)

A pituitary macroadenoma presenting with hyponatraemia. Abstract · Vol 13, No 2 (2008) - Articles Hypertension and diabetes: Poor care for patients at community health centre. Abstract · Vol 16, No 2 (2011) - Articles Diagnosis and management of Addison's disease: insights gained from a large South African cohort

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

NARCIS (Netherlands)

Heijmans, M.; Ridder, D. de; Bensing, J.

1999-01-01

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

Achalasia in a Patient with Polyglandular Autoimmune Syndrome Type II

Directory of Open Access Journals (Sweden)

Bashar S. Amr

2015-05-01

Full Text Available Achalasia is a rare disease characterized by aperistalsis of the esophageal body and failure of the lower esophageal sphincter to relax. The etiology of this disease remains unknown. Polyglandular autoimmune syndrome type II is a well-identified disease characterized by the occurrence of autoimmune Addison's disease in combination with autoimmune thyroid disease and/or type 1 diabetes mellitus. We report a case that suggests autoimmunity and immunogenicity as a probable contributing factor for association of these two rare disorders.

Addison's disease. Challenges in treatment and follow up

OpenAIRE

Smans, L.C.C.J.

2015-01-01

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 imperfections and gives a perspective on future developments. Next, we discuss the results of the use of salivary cortisol day curves in the individual adjustment of therapy in AI, showing that over-re...

Addison's disease. Challenges in treatment and follow up

NARCIS (Netherlands)

Smans, L.C.C.J.

2015-01-01

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

Primary biliary cirrhosis: Diagnostic and therapeutic aspects

NARCIS (Netherlands)

E.M.M. Kuiper (Edith)

2010-01-01

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

Author Details

African Journals Online (AJOL)

Atmaca, H. Vol 18, No 3 (2013) - Articles An unusual coexistence of Addison's disease and phaeochromocytoma. Abstract PDF. ISSN: 003-8-2469. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of Use ...

Radionuclide Tc-99m MDP imaging for diagnosis of bone tumour at ...

African Journals Online (AJOL)

F Hasford, J.H Amuasi, E.K Sosu, K Nani, T.A Sackey, M Boadu, I.K Wilson, E.C.K Addison ... breast, cervix and prostate. Breast, prostate and cervical cancers contribut-ed respectively to 34 %, 19 % and 18 % of the bone tumour cases, but only 3 % were diagnosed with osteoporo-sis (a relatively rare type of bone disease).

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

African Journals Online (AJOL)

second a case of Addison's disease-I have been searching in vain for the past 10 years for these conditions in my practice! The same applies to the rarities of teaching hospital surgery and gynaecology. The correct attention must be devoted to minor medicine and surgery. The student must be shown that one of the most ...

Reversible electrophysiological abnormalities in acute secondary hyperkalemic paralysis

OpenAIRE

Karkal R Naik; Aralikatte O Saroja; Mallikarjun S Khanpet

2012-01-01

Hyperkalemia manifests clinically with acute neuromuscular paralysis, which can simulate Guillain Barr? syndrome (GBS) and other causes of acute flaccid paralysis. Primary hyperkalemic paralysis occurs from genetic defects in the sodium channel, and secondary hyperkalemic paralysis (SHP) from diverse causes including renal dysfunction, potassium retaining drugs, Addison's disease, etc. Clinical characteristics of SHP have been addressed in a number of publications. However, electrophysiologic...

Avascular necrosis of bone complicating corticosteroid replacement therapy.

OpenAIRE

Williams, P L; Corbett, M

1983-01-01

Two patients who developed widespread severe avascular necrosis of bone while on steroid replacement therapy are described. One, a diabetic, underwent yttrium-90 pituitary ablation for retinopathy and developed avascular necrosis within 18 months of starting prednisolone. The other, who had Addison's disease, developed avascular necrosis within 14 months of starting cortisol replacement therapy. Both cases came to bilateral total hip replacement.

Nonsegmental Vitiligo and Autoimmune Mechanism

Directory of Open Access Journals (Sweden)

Naoki Oiso

2011-01-01

Full Text Available Nonsegmental vitiligo is a depigmented skin disorder showing acquired, progressive, and depigmented lesions of the skin, mucosa, and hair. It is believed to be caused mainly by the autoimmune loss of melanocytes from the involved areas. It is frequently associated with other autoimmune diseases, particularly autoimmune thyroid diseases including Hashimoto's thyroiditis and Graves' disease, rheumatoid arthritis, type 1 diabetes, psoriasis, pernicious anemia, systemic lupus erythematosus, Addison's disease, and alopecia areata. This indicates the presence of genetically determined susceptibility to not only vitiligo but also to other autoimmune disorders. Here, we summarize current understanding of autoimmune pathogenesis in non-segmental vitiligo.

Schmidt's syndrome: a rare cause of puberty menorrhagia.

Science.gov (United States)

Sharma, J B; Tiwari, S; Gulati, N; Sharma, S

1990-12-01

Schmidt's syndrome, also known as polyglandular deficiency syndrome, is the presence of Addison's disease and hypothyrodism in a single patient. It is usually associated with other autoimmune disorders like vitiligo, diabetes mellitus, myasthenia gravis. A rare case of an 18-year-old girl having Schmidt's syndrome and vitiligo who presented with puberty menorrhagia is reported. A brief review of the literature is also given.

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

OpenAIRE

Lazare, Kimberly

2017-01-01

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 ...

Cognitive function in patients with primary adrenal insufficiency (Addison's disease).

Science.gov (United States)

Schultebraucks, Katharina; Wingenfeld, Katja; Heimes, Jana; Quinkler, Marcus; Otte, Christian

2015-05-01

Patients with primary adrenal insufficiency (AI) need to replace glucocorticoids and mineralocorticoids that act on glucocorticoid (GR) and mineralocorticoid receptors (MR). Both receptors are highly expressed in the hippocampus and are closely associated with cognitive function, which might be impaired by insufficient or increased GR and MR stimulation. However, little is known about cognitive function in patients with AI. It was examined whether patients with AI exhibit worse cognitive function compared to sex-, age-, and education-matched controls. Cognitive function (executive function, concentration, verbal memory, visual memory, working memory, and autobiographical memory) was assessed in 30 patients with AI (mean age 52.4 yrs. ±14.4, n=21 women, mean duration of illness 18.2 yrs. ±11.1) and 30 matched controls. We also measured depressive symptoms, body mass index (BMI), and blood pressure. Patients with AI showed more depressive symptoms, had a greater BMI and lower systolic blood pressure compared to controls. Adjusted analyses controlling for these variables revealed that patients with AI performed significantly worse in verbal learning (F=7.8, p=.007). Executive function, concentration, working memory, verbal memory, visuospatial memory, and autobiographical memory did not differ between groups. No clinically relevant cognitive impairment was found in patients with AI compared to matched controls. Even long-term glucocorticoid and mineralocorticoid substitution over almost two decades appears to have only subtle effects on cognition in patients with AI. Copyright © 2015 Elsevier Ltd. All rights reserved.

Autoimunska tireoidna bolest i poliglandularne autoimunske bolesti

Directory of Open Access Journals (Sweden)

Todorović-Đilas Ljiljana

2011-01-01

Full Text Available Autoimmune polyglandular syndrome (APS involves dysfunction of two or more endocrine glands, which is based on the autoimmune mechanism. Many authors in addition to the two main APS syndrome, involves the third stand in which autoimmune thyroid disease (ATD is associated with other autoimmune diseases. APS type 1 occurs less frequently, starting in early childhood and the key is mutation in autoimmune regulator gene. Three major components characterize this syndrome: hypoparathyroidism, autoimmune adrenal insufficiency and mucocutaneous candidiasis. APS type 2 is associated with the HLA antigen system and basically is a disorder of CD4+ and CD25+ regulatory T-cells. The main components of the syndrome are: Addison's disease, ATD and type 1 diabetes mellitus. An important feature of APS is that the expression of components occurs in different time intervals, with each other long periods. ATD is more common than other autoimmune endocrine diseases and include Graves' disease, chronic autoimmune thyroiditis and postpartum thyroiditis. ATD associated with HLA class II genes and polymorphism of cytotoxic T-lymphocytes antigen 4. In basic there is disorder of cellular and humoral immunity, with auto-antibodies targeting tissue specific antigen and and present infiltration of mononuclear cells, predominantly lymphocytes in the affected tissue. The most common antibodies are thyroid peroxidase, thyroglobulin and TSH receptor antibodies. ATD is often associated with other endocrine (diabetes mellitus type 1, Addison's disease, autoimmune pituitary disease, hypoparathyreoidism, premature ovarian failure and non-endocrine autoimmune diseases. Given the frequency of ATD is a legitimate screening of ATD in other autoimmune diseases, and not vice versa. Testing involves the determination of TPO antibodies and TSH to separate those with high risk of developing ATD and forecasts for further screening.

Renal tubular acidosis complicated with hyponatremia due to cortisol insufficiency

OpenAIRE

Izumi, Yuichiro; Nakayama, Yushi; Onoue, Tomoaki; Inoue, Hideki; Mukoyama, Masashi

2015-01-01

Adrenocortical insufficiency such as occurs in Addison's disease causes hyponatremia and renal tubular acidosis (RTA). Hyponatremia results from both aldosterone and cortisol insufficiency. RTA is due to aldosterone insufficiency. The involvement of cortisol in RTA is unclear. Here, we report a woman in her 70s who was admitted to our hospital with severe hyponatremia (106 mEq/l) and RTA. The patient exhibited low plasma cortisol levels with little response to rapid adrenocorticotropic hormon...

Experiments in Knowledge Refinement for a Large Rule-Based System

Science.gov (United States)

1993-08-01

empirical analysis to refine expert system knowledge bases. Aritificial Intelligence , 22:23-48, 1984. *! ...The Addison- Weslev series in artificial intelligence . Addison-Weslev. Reading, Massachusetts. 1981. Cooke, 1991: ttoger M. Cooke. Experts in...ment for classification systems. Artificial Intelligence , 35:197-226, 1988. 14 Overall, we believe that it will be possible to build a heuristic system

Our Hidden Prejudices, on Trial

Science.gov (United States)

Glenn, David

2008-01-01

In October 2006, a New Hampshire police officer named Michael Briggs was shot to death in an alley. His accused killer, Michael Addison, has been charged with capital murder. It is the state's first death-penalty case in more than 30 years, and it is racially fraught: Addison is African-American, and Briggs was white. New Hampshire has a long list…

Hypoadrenocorticism (Addison's disease) in a Hoffmann's two-toed sloth (Choloepus hoffmanni).

Science.gov (United States)

Kline, Sarah; Rooker, Leah; Nobrega-Lee, Michelle; Guthrie, Amanda

2015-03-01

A 22-yr-old, captive-born, presumed female Hoffmann's two-toed sloth (Choloepus hoffmanni) presented in respiratory distress with severe dehydration and symptoms of hypotension. During treatment, dysphagia was noted and oral examination revealed enlarged palatine tonsils and mucosal plaques. Bloodwork showed a decreased sodium:potassium ratio, a low baseline cortisol, a decreased adrenocorticotropin response test, and a blunted aldosterone stimulation test. All values were compared to a healthy male Hoffmann's two-toed sloth at the same facility. Despite aggressive medical management and treatment for hypoadrenocorticism, the sloth was found deceased. Necropsy revealed abdominal effusion, multifocal plaques throughout the upper gastrointestinal tract, and testes. Histopathology showed marked adrenal cortical atrophy and intranuclear mucosal inclusions in the gastrointestinal tract; advanced molecular techniques did not uncover any viral etiologies. This is the first reported case of hypoadrenocorticism in a sloth.

Myalgias and muscle contractures as the presenting signs of Addison's disease.

OpenAIRE

Shapiro, M. S.; Trebich, C.; Shilo, L.; Shenkman, L.

1988-01-01

Severe generalized myalgias and muscle contractures of the lower extremities were the major initial manifestations of adrenal insufficiency in a 26 year old black male. The intensity of increased skin pigmentation was not fully appreciated until the patient's skin colour was compared to that of his brother. Replacement with physiological doses of gluco- and mineralocorticoids was associated with complete amelioration of symptomatology.

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

Directory of Open Access Journals (Sweden)

Luigi Venco

2011-01-01

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.

Genetic risk factors for type 1 diabetes

DEFF Research Database (Denmark)

Pociot, Flemming; Lernmark, Åke

2016-01-01

Type 1 diabetes is diagnosed at the end of a prodrome of β-cell autoimmunity. The disease is most likely triggered at an early age by autoantibodies primarily directed against insulin or glutamic acid decarboxylase, or both, but rarely against islet antigen-2. After the initial appearance of one...... is generally needed. The pathogenesis can be divided into three stages: 1, appearance of β-cell autoimmunity, normoglycaemia, and no symptoms; 2, β-cell autoimmunity, dysglycaemia, and no symptoms; and 3, β-cell autoimmunity, dysglycaemia, and symptoms of diabetes. The genetic association with each one...... of the three stages can differ. Type 1 diabetes could serve as a disease model for organ-specific autoimmune disorders such as coeliac disease, thyroiditis, and Addison's disease, which show similar early markers of a prolonged disease process before clinical diagnosis....

Hyperreninaemic hypoaldosteronism in a dog : case report

Directory of Open Access Journals (Sweden)

R.G. Lobetti

1998-07-01

Full Text Available A 9-year-old male German shepherd dog was evaluated for clinical and clinico-pathological changes that were suggestive of Addison's disease. On further investigation the basal plasma cortisol concentration was high, a normal cortisol response to ACTH stimulation occurred, plasma renin activity was elevated and low serum aldosterone concentration was present. A diagnosis of hyperreninaemic hypoaldosteronism was made. Replacement fludrocortisone resulted in complete normalisation of the electrolyte and fluid imbalances. Hyperreninaemic hypoaldosteronism has never been reported in the dog.

An Analysis of the Effect the Enlisted Grade Structure Review Has Upon First Term Alignment Plan Retention Requirements

Science.gov (United States)

2003-03-01

9 Labor force participation rate equates to the labor force divided by the population. 10 Ehrenberg and Smith, “Modern Labor Economics .” 27...Econometrica 66 (1998): 249. 12 Ehrenbrg, Ronald G. and Robert S. Smith. “Modern Labor Economics : Theory and Public Policy.” Addison Wesley...whs.osd.mil/mid/military/miltop.htm> Ehrenbrg, Ronald G. and Robert S. Smith. “Modern Labor Economics : Theory and Public Policy.” Addison Wesley

Hypoadrenocorticism in beagles exposed to aerosols of plutonium-238 dioxide by inhalation

International Nuclear Information System (INIS)

Weller, R.E.; Buschbom, R.L.; Dagle, G.E.

1996-01-01

Hypoadrenocorticism, known as Addison's disease in humans, was diagnosed in six beagles after inhalation of at least 1.7 kBq/g lung of 238 PuO 2 . Histological examination of adrenal gland specimens obtained at necropsy revealed marked adrenal cortical atrophy in all cases. Autoadiographs showed only slight α-particle activity. Although the pathogenesis of adrenal cortical atrophy in these dogs is unclear, there is evidence to suggest an automimmune disorder linked to damage resulting from α-particle irradiation to the lymphatic system

APPLICATION OF SUPERLUMINAL RADAR TO MAINTAIN AIR SUPERIORITY IN 2035

Science.gov (United States)

2016-02-16

Calculus and Analytic Geometry, 7th ed. (Reading, MA: Addison-Wesley Publishing Company) A-47. 9 Diagram drawn by author based on: Fleisch, A Student’s...Publishing, Inc., 1998. 17 Thomas, George B. Jr and Ross L. Finney. Calculus and Analytic Geometry, 7th ed. Reading, MA: Addison-Wesley Publishing Company...first two, we have to account for the energy lost in the space between the radar and the target due to atmospheric absorption and geometric spreading

[Neurological and psychiatric aspects of some endocrine diseases. The role of neurosteroids and neuroactive steroids].

Science.gov (United States)

Aszalós, Zsuzsa

2007-10-14

Regardless of their origin, neuroactive steroids are capable of modifying neural activities by modulating different types of membrane receptors. Neurosteroids are synthesized de novo in neurones and glia. Steroidogenic enzymes are found in the central nervous system. Classical steroid receptors are localized in the cytoplasm, they exert regulatory actions on the genome, and their activation causes medium- and long-term effects. Non-classical receptors are located within the membrane and act as mediators of short-term effects. Other important players are co-repressors and co-activators that can interfere with or enhance the activity of steroid receptors. Beyond their function in stress, corticosteroids play a very important role in fear, anxiety, and memory functions. Patients with Cushing's syndrome frequently develop mood disorder, reversible brain atrophy with transient memory loss, rarely delirium or psychosis. Well-known peripheral symptom is steroidal myopathy. In patients with Addison's disease the main signs are weakness of muscles, lack of energy, decreased mental functions and reduced quality of life. Estrogen and progesterone have their own respective hormone receptors, whereas allopregnanolone acts via the GABA receptors. These hormones have significant role in the development of brain, the architecture of neural circuits and dendrites, density of axonal connections, and the number of neurons. They influence maturation, neuroprotection, seizures, cognitive functions, mood, anxiety, pain, and restitution of peripheral nerves. Androgens also affect cognitive functions, pain, anxiety, mood, and additionally aggression.

Addison's disease in a patient with hypothyroidism: autoimmune polyglandular syndrome type 2.

Science.gov (United States)

Bain, Anna; Stewart, Munro; Mwamure, Peter; Nirmalaraj, Kingsley

2015-08-03

A 57-year-old Caucasian woman with known autoimmune hypothyroidism diagnosed in 2006 presented to hospital with flu-like symptoms and circulatory collapse. She reported weight loss and gradual increase in her skin pigmentation over a 1-year period. Aggressive fluid resuscitation was instituted. Hormonal tests showed primary adrenal insufficiency. Appropriate steroid replacement was started with rapid clinical response. Subsequent antibody tests confirmed the diagnosis of autoimmune polyglandular type 2 (Schmidt's) syndrome. The adrenal crisis had been precipitated by influenza virus type B infection. 2015 BMJ Publishing Group Ltd.

Pulsatile thyrotropin secretion in patients with Addison's disease during variable glucocorticoid therapy

DEFF Research Database (Denmark)

Hangaard, J; Andersen, M; Grodum, E

1996-01-01

, increasing significantly (P glucocorticoids, when the pulse frequency was also significantly reduced (P ... of glucocorticoids on the TSH response to TRH, our data indicate that even physiological serum levels of cortisol have an influence on endogenous TSH secretion, probably caused by regulation of the pituitary sensitivity to TRH....

Autoimmune polyendocrine syndrome type 2 in patient with severe allergic asthma treated with omalizumab.

Science.gov (United States)

Rams, Anna; Żółciński, Marek; Zastrzeżyńska, Weronika; Polański, Stanisław; Serafin, Agnieszka; Wilańska, Joanna; Musiał, Jacek; Bazan-Socha, Stanisława

2018-01-04

Asthma therapy with monoclonal antibodies is a promising and effective approach for those with a severe and refractory type of disease. Although such a targeted therapy is considered to be safe, unusual complications may occur. We present a case of a 45 year-old female patient with severe allergic asthma and chronic spontaneous urticaria, who developed autoimmune polyendocrine syndrome type 2 (APS-2) after 26 months of omalizumab administration. The patient was diagnosed with primary adrenal insufficiency (Addison's disease) and Hashimoto's thyroiditis accompanied by autoimmune atrophic gastritis. According to our knowledge this is the first description of APS-2 that developed in conjunction with omalizumab treatment, although we have no evidence that the observed phenomenon indicated a cause-effect relationship to omalizumab.

The role of General Practitioner in the recognition of adrenal insufficiency

Directory of Open Access Journals (Sweden)

Marta Dudzińska

2017-05-01

Full Text Available Background. Addison's disease (AD, usually caused by an autoimmune process, has non-specific symptomatology. The deficiency of cortisol is manifested by weakness, anorexia, weight loss and orthostatic hypotension.  Early recognition is crucial as acute adrenal insufficiency is a life threatening state. Objectives. Analysis of the clinical picture, occurrence of symptoms before diagnosis, and the role of General Practitioner (GP in the diagnosis of AD. Material and methods. 23 patients with primary adrenal insufficiency (18F, 5M, aged 24-80 years, with an average of 46,6 years. A method of proprietary questionnaire was used. Results. The symptoms present prior to diagnosis were as follows: weakness (100% of patients, approximately 9,2 months before the diagnosis, fatigue (100%; 8,8 months respectively, loss of appetite (95,6%; 9,1 months, skin darkening (95,6%; 10 months, orthostatic hypotension (91,3%; 10,7 months, weight loss (86,9%; 6,8 months, low blood pressure (73,9%; 11 months, stomachache (69,6%; 4,6 months, nausea (65,2%; 3,6 months, increased appetite for salt (56,5%; 6,2 months, muscle pain (52,2%; 15,5 months, hyperpigmentation of buccal mucosa and gums (47,8%; 2,7 months, vomiting (43,5%; 3,4 months. Because of these symptoms patients went to different specialists, including GPs in 78,3% of cases. Suspicion of the disease in 34.8% put GP. Conclusion. The symptoms of AD develop slowly and are present long time before the right diagnosis is established. Difficulties in early diagnosis may result from a low specificity of most of the symptoms. The role of GP in establishing the right and early diagnosis of Addison's disease is crucial.

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

OpenAIRE

Skedros, John G.; Kiser, Casey J.; Mendenhall, Shaun D.

2011-01-01

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 wer...

[Adrenal insufficiency of the adult].

Science.gov (United States)

Jublanc, C; Bruckert, E

2016-12-01

Adrenal insufficiency is a rare but life-threatening disorder. Clinical manifestations include fatigue, weight loss, gastrointestinal manifestations and skin hyperpigmentation, the latter being specific of primary adrenal failure. Because of non-specific clinical features of this rare disorder, diagnosis can be delayed and adrenal failure be revealed by an acute crisis. Adrenal insufficiency can be primary (Addison disease), most frequently autoimmune, or secondary, resulting from long term administration of exogenous glucocorticoids or more rarely from pituitary disorders. Monitoring of substitutive treatment is now well codified. Patient education is very important in this chronic disease that remains associated with a persistent high risk of adrenal crisis. Copyright © 2016 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

Radioimmune method for determination of aldosterone in urine

International Nuclear Information System (INIS)

Ignatowska-Switalska, H.

1976-01-01

The author describes a radioimmune method for determination of 18-aldosterone glucuronide using a specific aldosterone antibody. The optimal conditions of the test were elaborated and the sensitivity, accuracy and repeatability of the test were established. The normal values of aldosterone excretion determined in 28 healthy subjects on normal sodium diet ranged from 3.3 to 15 μg/24 hours +-3.5. Aldosterone excretion on low-sodium diet increased in the group of healthy controls to 36 μg/24 hours +-21. The usefulness of the method for clinical purposes was illustrated with results of aldosterone determinations in patients with Conn's syndrome, with malignant hypertension and with Addison's disease. (author)

Assembling of (βLPH) beta-lypothrophine radioimmunoassay. Plasma levels standardization in normal individuals and patients with hypophysis and adrenals diseases

International Nuclear Information System (INIS)

Castro, Margaret de.

1988-01-01

The present study investigates the extraction and radioimmunoassay (RIA) conditions of plasma βLPH. It was extracted by the activated silicic acid method, with a mean extraction efficiency of 31.6% and a mean intra-extraction variation coefficient of 8.1%. Radioiodination was performed by the chloramine-T method and βLPH 125 I was purified by gel chromatography on Sephadex G100. Estimated specific activity ranged from 100 to 192.8 μCi/μg, with a mean incorporation percentage of 66.6%. The titer of the first antibody was 1:50.000/100 μl. The assay was performed under non-equilibrium conditions, with a pre-incubation period of 24 hours and incubation of 4 hours. Mean immunoreactivity (Bo/Total) was 21.1%, with a mean Blank/Total ratio of 2.3%. Sensitivity, expressed as the mean minimum detectable dose, was 40 pg/tube, equivalent to 56 pg/ml plasma. Intra-assay variation coefficients were 6.5%, 3.8% and 6.8%, respectively, at B/Bo levels of 0.8, 0.6 and 0.4 of the standard curve. At B/Bo equal to 0.5, the intra-assay variation coefficient was 20.9%. Replicates of 14 plasma samples showed a correlation coefficient of r 0.99, (p< 0.05). Parallelism between the curve obtained with different volumes of an extract with a high βLPH value and the standard curve was found. The method was controlled biologically by the presence of correlation between the plasma βLPH levels and determined pathological states and with clinical functional studies. Twenty seven normal individuals, 10 patients with Cushing's disease to a tumor of the hypophysis, 4 patients with Cushing syndrome due to an adrenal tumor, 10 patients Addison disease, and 8 patients with hypopituitarism were studied. (author). 119 refs., 28 figs., 2 tabs

Immunological cross-reactivity to multiple autoantigens in patients with liver kidney microsomal type 1 autoimmune hepatitis.

Science.gov (United States)

Choudhuri, K; Gregorio, G V; Mieli-Vergani, G; Vergani, D

1998-11-01

We describe two patients with liver kidney microsomal antibody type 1 (LKM1)-positive autoimmune hepatitis (AIH) with associated endocrinopathies. The first patient had insulin-dependent diabetes (IDDM), and the second patient had Addison's disease and hypoparathyroidism, and is also positive for islet cell antibodies, without overt diabetes. To account for the existence of multiple endocrinopathy in these patients, we investigated whether there is sequence similarity between the target of LKM1 antibodies, cytochrome P4502D6 (CYP2D6), and other human proteins, and if so, whether this structural similarity produces a detectable cross-reactive immune response. Our database search identified two proteins, carboxypeptidase H, an autoantigen in insulin-dependent diabetes, and 21-hydroxylase, the major autoantigen in Addison's disease, that share sequence similarity to the second major LKM1 epitope on CYP2D6. We tested the reactivity of sera from these patients to the homologous regions of the three autoantigens using an enzyme-linked immunosorbent assay (ELISA). The cut-off for positivity was established by testing sera from 22 healthy children. To determine the significance of reactivity to the peptide homologues of the three autoantigens, we investigated 16 additional patients with LKM1 AIH and 20 children with chronic hepatitis B virus infection as pathological controls. We found that reactivity to the second major epitope of CYP2D6 is significantly associated with reactivity to the homologous regions of carboxypeptidase H (CPH) and 21-hydroxylase (21-OHase) in patients with LKM1 AIH, and that this simultaneous recognition is cross-reactive. We suggest that a cross-reactive immune response between homologous autoantigens may contribute to the development of multiple endocrinopathies in LKM1 AIH.

From Genetics to Genetic Algorithms

Indian Academy of Sciences (India)

Genetic algorithms (GAs) are computational optimisation schemes with an ... The algorithms solve optimisation problems ..... Genetic Algorithms in Search, Optimisation and Machine. Learning, Addison-Wesley Publishing Company, Inc. 1989.

Paraneoplastic addisonian pigmentation and acquired ichthyosis as presenting features of multiple myeloma

International Nuclear Information System (INIS)

Dar, N.R.; Raza, N.

2010-01-01

Black brown hyperpigmentation of the mucosae, sun exposed skin, palmar creases and frictional sites (Addisonian pigmentation) is characteristic of Addison disease. However, it can also occur as a para neoplastic manifestation of tumours like bronchogenic carcinoma. Acquired ichthyosis starts later in life and can also be a para neoplastic presentation.We report a unique combination of para neoplastic Addisonian pigmentation and acquired ichthyosis as presenting features in a patient with undiagnosed multiple myeloma. To the best of our knowledge this combination of para neoplastic dermatosis has not been documented before in multiple myeloma. It is concluded that the presence of more than one suspicious dermatosis may be an indicator of being para neoplastic requiring necessary work-up. (author)

Rifampicin-induced adrenal crisis in a patient with tuberculosis: a therapeutic challenge.

Science.gov (United States)

Denny, Nicholas; Raghunath, Sarika; Bhatia, Praveen; Abdelaziz, Muntasir

2016-11-29

A 55-year-old Indian man presented with productive cough and a large left pleural effusion. Pleural fluid culture grew Mycobacterium tuberculosis, and he was started on antituberculosis therapy. One week later, the patient presented to hospital with drowsiness, dehydration and hypotension. He was transferred to critical care and only improved after starting hydrocortisone and stopping rifampicin. His short synACTHen test subsequently confirmed primary adrenal insufficiency, and a CT of the abdomen showed bilateral adrenal enlargement. Rifampicin is known to accelerate cortisol metabolism. We report the rare case of a rifampicin-induced adrenal crisis as a first presentation of Addison's disease in a patient with tuberculous infiltration of the adrenal glands. 2016 BMJ Publishing Group Ltd.

Immunologic Endocrine Disorders

Science.gov (United States)

Michels, Aaron W.; Eisenbarth, George S.

2010-01-01

Autoimmunity affects multiple glands in the endocrine system. Animal models and human studies highlight the importance of alleles in HLA (human leukocyte antigen)-like molecules determining tissue specific targeting that with the loss of tolerance leads to organ specific autoimmunity. Disorders such as type 1A diabetes, Grave's disease, Hashimoto's thyroiditis, Addison's disease, and many others result from autoimmune mediated tissue destruction. Each of these disorders can be divided into stages beginning with genetic susceptibility, environmental triggers, active autoimmunity, and finally metabolic derangements with overt symptoms of disease. With an increased understanding of the immunogenetics and immunopathogenesis of endocrine autoimmune disorders, immunotherapies are becoming prevalent, especially in type 1A diabetes. Immunotherapies are being used more in multiple subspecialty fields to halt disease progression. While therapies for autoimmune disorders stop the progress of an immune response, immunomodulatory therapies for cancer and chronic infections can also provoke an unwanted immune response. As a result, there are now iatrogenic autoimmune disorders arising from the treatment of chronic viral infections and malignancies. PMID:20176260

Adrenoleukodystrophy

Science.gov (United States)

... leg stiffness Problems with thinking speed and visual memory Adrenal gland failure (Addison type) symptoms include: Coma Decreased appetite Increased skin color Loss of weight and muscle mass (wasting) Muscle ...

RE-SONANCE--IJ-un-e

Indian Academy of Sciences (India)

manufacturing, handwriting and face recognition are discussed. Introduction ..... Integrated circuit chips are examined for defects using image- processing ... [3] R Gonzalez and R Woods, Digital Image Processing, Second Edition,. Addison ...

Bilateral ossification of the auricles: an unusual entity and review of the literature

Directory of Open Access Journals (Sweden)

Siabi Vassiliki

2009-10-01

Full Text Available Abstract Background True ossification of the auricle with cartilage replacement by bone, is a very rare clinical entity and can result in an entirely rigid auricle. Case presentation We present a rare case of bilateral ossification of the auricles in a 75-years old man with profound progressive rigidity of both auricles. His main complaint was a mild discomfort during resting making sleeping unpleasant without any other serious symptoms. His medical history was significant for predisposing factors for this condition such as, Addison's disease and diabetes mellitus. Excisional biopsy was performed confirming the ossified nature of the auricles. Further treatment deemed unnecessary in our case due to his mild clinical picture. Conclusion True auricular ossification is a quite rare clinical entity with unclear pathogenesis and one should have in mind that there is always the possibility of a serious co-existed disease like endocrinopathy.

Adrenal insufficiency in a child with MELAS syndrome.

Science.gov (United States)

Afroze, Bushra; Amjad, Nida; Ibrahim, Shahnaz H; Humayun, Khadija Nuzhat; Yakob, Yusnita

2014-11-01

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are established subgroups of mitochondrial encephalomyopathy. m.3243A>G a common point mutation is detected in tRNA in majority of patients with MELAS phenotype whereas m.8344A>G point mutation in tRNA is observed, in MERRF phenotype. Adrenal insufficiency has not been reported in mitochondrial disease, except in Kearns-Sayre Syndrome (KSS), which is a mitochondrial deletion syndrome. We report an unusual presentation in a five year old boy who presented with clinical phenotype of MELAS and was found to have m.8344A>G mutation in tRNA. Addison disease was identified due to hyperpigmentation of lips and gums present from early childhood. This is the first report describing adrenal insufficiency in a child with MELAS phenotype. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Fulltext PDF

Indian Academy of Sciences (India)

experiences and viewpoints on matters related to teaching and learning science. Soumyajit Jana ... This article contains very simple mathematics and a lot of .... [2] Edwin E Moise, Elementary geometry from an advanced standpoint, Addison-.

Synthetic magnetic opals

Indian Academy of Sciences (India)

2JDS Uniphase Corporation, 625 Industrial Way, Eatontown, NJ 07724, USA ..... the Swedish funding agency VINNOVA for financing this project. VA, PS ... [5] B D Cullity, Introduction to magnetic materials (Addison-Wesley Publishing Co.) p.

Industrialization

African Journals Online (AJOL)

Lucy

. African states as ... regarded as the most important ingredients that went to add value to land and labour in order for countries ... B. Sutcliffe Industry and Underdevelopment (Massachusetts Addison – Wesley Publishing Company. 1971), pp.

Does vitamin D play a role in autoimmune endocrine disorders? A proof of concept.

Science.gov (United States)

Altieri, Barbara; Muscogiuri, Giovanna; Barrea, Luigi; Mathieu, Chantal; Vallone, Carla V; Mascitelli, Luca; Bizzaro, Giorgia; Altieri, Vincenzo M; Tirabassi, Giacomo; Balercia, Giancarlo; Savastano, Silvia; Bizzaro, Nicola; Ronchi, Cristina L; Colao, Annamaria; Pontecorvi, Alfredo; Della Casa, Silvia

2017-09-01

In the last few years, more attention has been given to the "non-calcemic" effect of vitamin D. Several observational studies and meta-analyses demonstrated an association between circulating levels of vitamin D and outcome of many common diseases, including endocrine diseases, chronic diseases, cancer progression, and autoimmune diseases. In particular, cells of the immune system (B cells, T cells, and antigen presenting cells), due to the expression of 1α-hydroxylase (CYP27B1), are able to synthesize the active metabolite of vitamin D, which shows immunomodulatory properties. Moreover, the expression of the vitamin D receptor (VDR) in these cells suggests a local action of vitamin D in the immune response. These findings are supported by the correlation between the polymorphisms of the VDR or the CYP27B1 gene and the pathogenesis of several autoimmune diseases. Currently, the optimal plasma 25-hydroxyvitamin D concentration that is necessary to prevent or treat autoimmune diseases is still under debate. However, experimental studies in humans have suggested beneficial effects of vitamin D supplementation in reducing the severity of disease activity. In this review, we summarize the evidence regarding the role of vitamin D in the pathogenesis of autoimmune endocrine diseases, including type 1 diabetes mellitus, Addison's disease, Hashimoto's thyroiditis, Graves' disease and autoimmune polyendocrine syndromes. Furthermore, we discuss the supplementation with vitamin D to prevent or treat autoimmune diseases.

Strain induced anomalous red shift in mesoscopic iron oxide ...

Indian Academy of Sciences (India)

Wintec

pared to spherical ones. The red shift is attributed to strain induced changes in internal pressure inside the ..... Shape control can also induce anisotropy and thus modify the coercivity of these ... ppines: Addison-Wesley Publishing Company).

Managing Change: Converting the Defense Industry

Science.gov (United States)

1993-04-01

concerned 16 BuzzeUl, Robert D., John A. Quelch, and Christopher Bartlett, Global Marketing Management, Cases and Readings, (Reading, Massachusetts...Christopher Bartlett. 1992. Global Marketing Management, Cases and Readings. Reading, Massachusetts: Addison-Wesley Publishing Company. Byrne, John A

A Summary and Evaluation of Aquatic Environmental Data in Relation to Establishing Water Quality Criteria for Munitions-Unique Compounds. Part 3. White Phosphorus.

Science.gov (United States)

1979-04-01

follows: Hypophosphite Trimetaphosphate Hydrophosphite Tetrametaphosphate Phosphite Hexametaphosphate Pyrophosphate Phosphine Tripolyphosphate Addison (1971...1969 and were limited to trace amounts (approximately 0.1 to 0.5 ig/l) at most stations. Only samples taken directly over the silt deposit contained

Multiple-Vehicle Resource-Constrained Navigation in the Deep Ocean

Science.gov (United States)

2011-09-01

David E. Hardt Chairman, Department Committee on Graduate Students MIT Accepted by...Blackwell, 2007. [84] I.G. Priede, S. Addison, S. Bradley, P.M. Bagley, P. Gray, C. Yau, J.-F. Rolin, J. Blandin, J. Legrand, A. Cremer , U. Witte, O

Evaluation of the Department of the Navy’s (DoN’s) Managers Internal Control (MIC) Manual

Science.gov (United States)

2008-12-01

inaccuracies or exceptions that could indicate internal control problems. • Operating management compares production, sales , or other operating...94 THIS PAGE INTENTIONALLY LEFT BLANK 95 LIST OF REFERENCES Addison-Hewitt Associates. B2B Consultancy. (2004). A guide to the Sarbanes

CREASE 6.0 Catalog of Resources for Education in Ada and Software Engineering

Science.gov (United States)

1992-02-01

Programming Software Engineering Strong Typing Tasking Audene . Computer Scientists Terbook(s): Barnes, J. Programming in Ada, 3rd ed. Addison-Wesley...Ada. Concept: Abstract Data Types Management Overview Package Real-Time Programming Tasking Audene Computer Scientists Textbook(s): Barnes, J

Assay of serum ferritin by two different radioimmunometric methods and its clinical significance

International Nuclear Information System (INIS)

Kaltwasser, J.P.; Werner, E.; Gesellschaft fuer Strahlen- und Umweltforschung m.b.H., Frankfurt am Main

1977-01-01

Serum ferritin was measured by two different radioimmunometric methods a) the Addison assay, b) a commercial radioimmunoassay. Iron storage in the body was determined using 59 Fe. A dose correlation was found between serum ferritin and iron storage in the body. (AJ) [de

Original Research Original Research

African Journals Online (AJOL)

RAGHAVENDRA

Language and Art Studies, Institute of Language Studies and Journalism,. Wollega University, Post Box No: 395, Nekemte, Ethiopia ... tudies and Journalism,. Article Information. Article History: Received : 11-04-2015 ..... Teaching by principles: An interactive approach to language pedagogy. New York, NY: Addison.

Potential Use of Agile Methods in Selected DoD Acquisitions: Requirements Development and Management

Science.gov (United States)

2014-04-01

guidelines. 9 Kanban is a technique for managing workflow originating from the lean engineering methods pioneered by Toyota. [Reinertsen 2009...Cockburn, Alistair, & Pols, Andy. Patterns for Effective Use Cas- es. Addison-Wesley, 2002. Anderson, David. Kanban . Blue Hole Press, 2010. CMU/SEI-2013

40 CFR 81.346 - Vermont.

Science.gov (United States)

2010-07-01

... classified Better than national standard Champlain Valley Air Management Area: Essex Town (includes Essex... Classification Date 1 Type Statewide Unclassifiable/Attainment Addison County Bennington County Caledonia County Chittenden County Essex County Franklin County Grand Isle County Lamoille County Orange County Orleans County...

Distinguishing a SM-like MSSM Higgs boson from SM Higgs boson ...

Indian Academy of Sciences (India)

The Higgs sector of the MSSM contains two scalar doublet fields leading to five ... At tree level, the masses and couplings of the MSSM Higgs bosons ..... J F Gunion, H E Haber, G Kane and S Dawson, The Higgs Hunters Guide (Addison-.

Modeling Kanban Processes in Systems Engineering

Science.gov (United States)

2012-06-01

results in lower change traffic and defect incidence. • KSS: Incremental SE, with some design up-front and design continuing throughout development...Boston: Addison-Wesley. [11] Morgan, James M, and Jeffrey K Liker. (2006). The Toyota Product Development System: Integrating People, Process, and

Far-infrared spectral studies of magnesium and aluminum co ...

Indian Academy of Sciences (India)

Far-infrared absorption spectroscopy has been used to study the occurrence of var- ... density of the products was found to be about 83% of the X-ray density. ..... [15] B D Cullity, Elements of X-ray diffraction (Addison-Wesley Press, Reading, ...

Angular momentum and the electromagnetic top

Indian Academy of Sciences (India)

2016-07-06

Jul 6, 2016 ... 1. Introduction. The violation of the action and reaction principle in classical .... ering that the moving m possesses an electric dipole moment d = c−1 v × m. ..... man lectures on physics (Addison-Wesley, New York, 1964). Vol. 2.

Enterprise Management Network Architecture Distributed Knowledge Base Support

Science.gov (United States)

1990-11-01

schemata be distributed? To solve this problem, we defined a user- callable function: distribution-function. This function identifies who the "potential...Artificial Intelligence, Volume 4. Addison-Wesley Publishing Company, Massachusetts, 1989. [4] Bond , A.H., and Gasser, L. Readings in Distributed

New York State urban and rural measurements of continuous PM2.5 mass by FDMS, TEOM, and BAM.

Science.gov (United States)

Schwab, James J; Felton, Henry D; Rattigan, Oliver V; Demerjian, Kenneth L

2006-04-01

Field evaluations and comparisons of continuous fine particulate matter (PM2,5) mass measurement technologies at an urban and a rural site in New York state are performed. The continuous measurement technologies include the filter dynamics measurement system (FDMS) tapered element oscillating microbalance (TEOM) monitor, the stand-alone TEOM monitor (without the FDMS), and the beta attenuation monitor (BAM). These continuous measurement methods are also compared with 24-hr integrated filters collected and analyzed under the Federal Reference Method (FRM) protocol. The measurement sites are New York City (the borough of Queens) and Addison, a rural area of southwestern New York state. New York City data comparisons between the FDMS TEOM, BAM, and FRM are examined for bias and seasonality during a 2-yr period. Data comparisons for the FDMS TEOM and FRM from the Addison location are examined for the same 2-yr period. The BAM and FDMS measurements at Queens are highly correlated with each other and the FRM. The BAM and FDMS are very similar to each other in magnitude, and both are approximately 25% higher than the FRM filter measurements at this site. The FDMS at Addison measures approximately 9% more mass than the FRM. Mass reconstructions using the speciation trends network filter data are examined to provide insight as to the contribution of volatile species of PM2.5 in the FDMS mass measurement and the fraction that is likely lost in the FRM mass measurement. The reconstructed mass at Queens is systematically lower than the FDMS by approximately 10%.

Hipoadrenocorticismo primario canino: reporte de caso

Directory of Open Access Journals (Sweden)

J. L. Granados

2011-06-01

Full Text Available Un canino macho Cocker Spaniel de 6 meses de edad fue presentado a la Clínica para Pequeños Animales de la Universidad Nacional de Colombia, con historia de vómito y diarrea de una semana de duración. El paciente presentaba hiperkalemia, y los electrocardiogramas realizados fueron compatibles con este hallazgo. El diagnóstico de hipoadrenocorticismo primario fue confirmado mediante la realización de una prueba de estimulación con ACTH. Posteriormente a la muerte súbita del paciente, el examen microscópico de las glándulas adrenales reveló cambios histológicos compatibles con laenfermedad de Addison. El hipoadrenocorticismo primario es un desorden endocrinopoco común que afecta principalmente pacientes caninos; está caracterizado por ladestrucción inmunomediada de las cortezas adrenales, lo cual conduce a deficienciade glucocorticoides, mineralocorticoides y hormonas sexuales adrenales. La historia delos pacientes afectados es variable y los signos clínicos son usualmente inespecíficos; laspruebas de laboratorio, por lo general, revelan hiperkalemia e hiponatremia, resultantesde la pérdida de la secreción de aldosterona. La historia, el examen clínico, la ecografíaabdominal y los hallazgos de laboratorio pueden indicar enfermedad de Addison, sinembargo, la prueba de estimulación con hormona adrenocorticotrópica (ACTH esconsiderada como la prueba de oro para el diagnóstico definitivo de la entidad. La enfermedadde Addison no tiene cura, pero puede ser manejada con terapia médica parareemplazar las deficiencias de mineralocorticoides y glucocorticoides.

A Computer Simulation of Organizational Decision-Making.

Science.gov (United States)

1979-12-01

into detail on the representation of the linkages between the variables. The next variable to be considered is the organizatinal outcome. Like...D.A., Organizational Learning: A Theor of Action Perspective; Addison-Wesley, Reading, Mass., 1978. Cohen, M.D., and March, J.G., Leadership and

75 FR 43930 - Notice of Petitions by Firms for Determination of Eligibility To Apply for Trade Adjustment...

Science.gov (United States)

2010-07-27

... company is a manufacturer Addison, IL 60101. of metal parts for the locomotive and industrial manufacturing industries. The firm manufactures brackets, pads and custom weldments. Express Scale Parts, Inc 6873 Martindale Rd., 6/29/2010 Weighing, bagging and Shawnee, KS. conveying equipment systems Strive...

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

The Role of Fludrocortisone in Cognition and Mood in Patients with Primary Adrenal Insufficiency (Addison's Disease).

Science.gov (United States)

Schultebraucks, Katharina; Wingenfeld, Katja; Otte, Christian; Quinkler, Marcus

2016-01-01

Primary adrenal insufficiency (AI) requires hormone replacement therapy with fludrocortisone and hydrocortisone stimulating glucocorticoid (GR) and mineralocorticoid receptors (MR). Evidence from animal and human studies shows that MR function is crucial for cognitive function and mood. Regarding patients with AI, very little is known about the role of MR in cognitive function and mood. A repeated-measures within-subject design was used to determine whether cognitive function and mood are related to MR occupation in patients with AI. Intraindividually, patients were examined twice, with 1 week between testing days: once with fludrocortisone (high MR occupation) and once without fludrocortisone (low MR occupation). All patients kept their stable regimen of hydrocortisone. The assessment of cognitive function included executive function, attention, and verbal, visuospatial and working memory. Additionally, mood and blood pressure were measured. Verbal memory improved significantly during high MR occupation (after fludrocortisone intake) compared to low MR occupation [without fludrocortisone, t(29) = -2.1, p = 0.046]. There were trend level differences in the Number-Combination test [t(29) = -1.9, p = 0.074] and in the Stroop interference task [t(29) = -1.9, p = 0.068]. No significant differences in visuospatial and working memory were found. Furthermore, the current mood state was better during high MR occupation compared to low MR occupation [t(29) = -2.4, p = 0.023] as was diastolic blood pressure [F(2, 29) = 3.6, p = 0.07]. Cognitive function and mood in patients with AI depend in part on MR occupation. Because the medium effect size indicates a potential clinical significance, further studies should systematically examine which dosages of fludrocortisone are associated with optimal cognitive function and mood in AI patients. © 2015 S. Karger AG, Basel.

A Rapid Assessment of Instructional Strategies to Teach Auditory-Visual Conditional Discriminations to Children with Autism

Science.gov (United States)

Kodak, Tiffany; Clements, Andrea; LeBlanc, Brittany

2013-01-01

The purpose of the present investigation was to evaluate a rapid assessment procedure to identify effective instructional strategies to teach auditory-visual conditional discriminations to children diagnosed with autism. We replicated and extended previous rapid skills assessments (Lerman, Vorndran, Addison, & Kuhn, 2004) by evaluating the effects…

Tradespace and Affordability - Phase 1

Science.gov (United States)

2013-07-09

will help make such decisions. A further approach growing in use is the workflow-oriented Kanban method of limiting work in progress and... Kanban , Blue Hole Press, 2010. 18. K.. Beck, Extreme Programming Explained, Addison Wesley, 1999. Contract Number: H98230-08-D-0171 TO 0031, RT

(AJST) ANALYSIS OF VAN DER WAAL EQUATION NEAR THE ...

African Journals Online (AJOL)

quantities are found to satisfy the empirical ideal gas law, that is. m m. m m m. PV. N k T ... forces1,2 and theoretically developed general equation of state for gases as 3,4,5 ..... Theory and Statistical Thermodynamics, 3rd Ed. Addison-Wesley ...

The Effects of Digital Control on Longitudinal Autopilots for Bank-to-Turn and Skid-Turn Missiles.

Science.gov (United States)

1985-12-01

Control of Dynamic Systems Addison-Wesley Publishing Company, 1961. 7. Karadimas , C., Design and Analysis of Discrete Lateral Autogilots for BTT...GREECE 8. LT Karadimas , Christos H.N 1 Kolokotroni 156 Piraeus GREECE ’-- 138 ............-.... *9. LT Karadimt trf s, Antont os HRN 201 Glenwood Circle

Intelligent wireless forensic model (IWFM) for moving devices between wireless networks

CSIR Research Space (South Africa)

Ngobeni, SJ

2008-09-01

Full Text Available Donald, Forensic Analysis of the Contents of Nokia Mobile Phones, 2006, Pp 1-4. [3] W.G. Kruse and J.G. Heiser, Computer Forensics, Incident response essentials, Addison-Wesley, Boston, 2001. [4] M. Kohn, J.H.P. Eloff, M. Olivier, Framework for a Digital...

Our Gifted: Our Future. Proceedings of the Annual Northern Virginia Conference on Gifted/Talented Education (5th, Alexandria, VA, March 7-8, 1980).

Science.gov (United States)

Orloff, Jeffrey H., Ed.

The document contains 13 selected papers from a conference on working with gifted students. Titles and authors include the following: "A Metacurriculum for the Future" (B. Hubbard); "Building a Curriculum to Train Leadership Abilities" (L. Addison); "Gifted Boys, Gifted Girls--What's the Difference" (B. Becker);…

Effective Evaluation of Teaching: A Guide for Faculty and Administrators

Science.gov (United States)

Kite, Mary E., Ed.

2012-01-01

This book compiles several essays about effective evaluation of teaching. Contents of this publication include: (1) Conducting Research on Student Evaluations of Teaching (William E. Addison and Jeffrey R. Stowell); (2) Choosing an Instrument for Student Evaluation of Instruction (Jared W. Keeley); (3) Formative Teaching Evaluations: Is Student…

75 FR 62048 - Proposed Flood Elevation Determinations

Science.gov (United States)

2010-10-07

... Brown Street, Runnells, IA 50237. Unincorporated Areas of Polk County Maps are available for inspection... Sugar Creek Approximately 250 feet None +1080 Township of Wayne. downstream of U.S. Route 322... Addison. upstream of Robert Brown Road. Approximately 1.25 mile None +1386 upstream of Robert Brown Road...

Stress Coping Strategies among Agricultural Extension Agents in ...

African Journals Online (AJOL)

User

Therefore, managing job stress with various coping strategies in an organization such as Oyo ... level of relationship between job stressors and coping strategies. ..... Behavior. 2nd(Ed). Addison-Wesley Publishing Company, Inc. pp295-31. ... Lietal, Y. X., Yang, X., &Shen, J. L. (2007). The relationship between teachers'.

Online Information Services: You've Come a Long Way, Baby!

Science.gov (United States)

Reinhold, Fran; Vernot, Dave

1987-01-01

Describes four online information service packages developed for schools: (1) Dialog's Classroom Instruction Program; (2) Addison-Wesley's Einstein; (3) WNET's Learning Link; and (4) McGraw-Hill's Information Exchange (MIX). Databases offered in each service are described, as well as accompanying curriculum materials, and costs for the services…

Source parameters estimation of 2003 Bam earthquake Mw 6.5 ...

Indian Academy of Sciences (India)

to optimize the fit to observed elastic response spectra. .... Sources of uncertainty in engineering safety prob- .... be created and passed to their children. Without an operator of this type, some possibly important regions of the search space may never be explored. ..... mization, and machine learning (Reading, MA: Addison-.

Hipoadrenocorticismo primario canino: reporte de caso

Directory of Open Access Journals (Sweden)

J. L. Granados

2011-01-01

Full Text Available Un canino macho Cocker Spaniel de 6 meses de edad fue presentado a la Clínica para Pequeños Animales de la Universidad Nacional de Colombia, con historia de vómito y diarrea de una semana de duración. El paciente presentaba hiperkalemia, y los electrocardiogramas realizados fueron compatibles con este hallazgo. El diagnóstico de hipoadrenocorticismo primario fue confirmado mediante la realización de una prueba de estimulación con ACTH. Posteriormente a la muerte súbita del paciente, el examen microscópico de las glándulas adrenales reveló cambios histológicos compatibles con la enfermedad de Addison. El hipoadrenocorticismo primario es un desorden endocrino poco común que afecta principalmente pacientes caninos; está caracterizado por la destrucción inmunomediada de las cortezas adrenales, lo cual conduce a deficiencia de glucocorticoides, mineralocorticoides y hormonas sexuales adrenales. La historia de los pacientes afectados es variable y los signos clínicos son usualmente inespecíficos; las pruebas de laboratorio, por lo general, revelan hiperkalemia e hiponatremia, resultantes de la pérdida de la secreción de aldosterona. La historia, el examen clínico, la ecografía abdominal y los hallazgos de laboratorio pueden indicar enfermedad de Addison, sin embargo, la prueba de estimulación con hormona adrenocorticotrópica (ACTH es considerada como la prueba de oro para el diagnóstico definitivo de la entidad. La enfermedad de Addison no tiene cura, pero puede ser manejada con terapia médica para reemplazar las deficiencias de mineralocorticoides y glucocorticoides.

Results of SEI Independent Research and Development Projects and Report on Emerging Technologies and Technology Trends

Science.gov (United States)

2004-10-01

Graff, M. & van Wyk, K. Secure Coding Principles & Practices. O’Reilly, 2003. • Hoglund, G. & McGraw, G. Exploiting Software: How to Break Code. Addison...Eisenecker, U.; Glück, R.; Vandevoorde, D.; & Veldhuizen , T. “Generative Programming and Active Libraries (Extended Abstract)” <osl.iu.edu/~tveldhui/papers

JST Thesaurus Headwords and Synonyms: Addison貧血 [MeCab user dictionary for science technology term[Archive

Lifescience Database Archive (English)

Full Text Available MeCab user dictionary for science technology term Addison貧血 名詞 サ変接続 * * * * 悪性貧血 アク...セイヒンケツ アクセイヒンケツ Thesaurus2015 200906044106165134 C LS51 UNKNOWN_2 Addison 貧血

Effective Microcomputer Management: An Executive Level Guide.

Science.gov (United States)

1986-03-27

capacity of what can be accomplished - but at a price. Brod [Ref. 25: pp. 16-171 uses the term " technostress " to describe the inability to cope with...T., Structured Analysis and System Sr~cifcatonYourdon, Inc. , 1S/9. 25. Brod, C. , Technostress , Addison-Wesley, 1984. 26. Brod, C. Technostress

Personal news

NARCIS (Netherlands)

NN,

1960-01-01

Mr G.H. Addison, Curator of the Singapore Botanic Garden, repatriated end 1959. Mr P. Ashton, Forest Botanist, Brunei, will return to England after expiry of his contract early 1950. He obtained a grant for some years to work out his data on various items, Dipterocarps and other trees, of Borneo, as

JST Thesaurus Headwords and Synonyms: Addison‐Biermer貧血 [MeCab user dictionary for science technology term[Archive

Lifescience Database Archive (English)

Full Text Available MeCab user dictionary for science technology term Addison‐Biermer貧血 名詞 サ変接続 * * * * 悪性貧血... アクセイヒンケツ アクセイヒンケツ Thesaurus2015 200906044106165134 C LS51 UNKNOWN_2 Addison ‐ Biermer 貧血

Infection and twiddler syndrome in a dog with addison's disease, complete heart block, and wandering artificial pacemakers

International Nuclear Information System (INIS)

Hill, R.C.; Buchanan, J.W.

1990-01-01

Third degree heart block developed in an obese, 10-year-old Labrador retriever with adrenocortical failure. A permanent transthoracic pacemaker was fitted, but the pulse generator migrated 2 years later, to the ventral part of the flank, where an abscess formed. A new pacemaker was fitted, but also migrated and rotated and a syndrome analogous to Twiddler's syndrome in man developed. After a further 2 years the second pacemaker was located, encapsulated within the right pleural cavity. Culture of the brownish exudate around the pulse generator yielded Pseudomonas sp

Transactions of the Army Conference on Applied Mathematics and Computing (6th) Held in Boulder, Colorado on 31 May - 3 June 1988

Science.gov (United States)

1989-02-01

Groebner Bases Moss Sweedler ...................................................... 699 Using Macsyma in a Generalized Harmonic Balance Method for a Problem...Doing Mathiematics by Comnputer, Addison-Wesley Publishing Company, 1988. 698 Groebner Bases GROEBNER BASES Moss Sweedler Mathematical Sciences...Institute Cornell University Ithaca NY 14853 ABSTRACT Groebner bases are remarkable sets of polynomials which permit effec- tive manipulation of multivariate

JST Thesaurus Headwords and Synonyms: Addison悪性貧血 [MeCab user dictionary for science technology term[Archive

Lifescience Database Archive (English)

Full Text Available MeCab user dictionary for science technology term Addison悪性貧血 名詞 サ変接続 * * * * 悪性貧血 ...アクセイヒンケツ アクセイヒンケツ Thesaurus2015 200906044106165134 C LS51 UNKNOWN_2 Addison 悪性 貧血

Adjuvant psychological therapy in long-term endocrine conditions.

Science.gov (United States)

Daniels, J; Turner-Cobb, J M

2017-06-01

Consideration of psychological distress in long-term endocrine conditions is of vital importance given the prevalence of anxiety and depression in such disorders. Poor mental health can lead to compromised self-care, higher utilization of health services, lower rates of adherence, reduced quality of life and ultimately poorer outcomes. Adjuvant psychological therapy offers an effective resource to reduce distress in endocrine conditions. While the vast majority of work in this area has focused on psychological screening and intervention in diabetes, identification and recognition of psychological distress are equally important in other endocrinological conditions, with supportive evidence in polycystic ovary syndrome and Addison's disease. Referral pathways and recommendations set out by UK guidelines and the Department of Health mandate requires greater attention across a wider range of long-term endocrine conditions to facilitate improved quality of life and health outcome. © 2017 John Wiley & Sons Ltd.

Principles and clinical applications of liquid chromatography - tandem mass spectrometry for the determination of adrenal and gonadal steroid hormones.

Science.gov (United States)

Kulle, A E; Welzel, M; Holterhus, P-M; Riepe, F G

2011-10-01

Liquid-chromatography - tandem mass spectrometry (LC-MS/MS) is becoming the method of choice for clinical steroid analysis. In most instances, it has the advantage of higher sensitivity, better reproducibility and greater specificity than commercial immunoassay techniques. The method requires only minimal sample preparation and a small sample volume. Furthermore, it has the potential to analyze multiple steroids simultaneously. Modern instruments guarantee high throughput, allowing an affordable price for the individual assay. All this makes LC-MS/MS an attractive method for use in a clinical setting. Reliable reference ranges for the detected analytes are the pre-requisite for their clinical use. If these are available, LC-MS/MS can find application in congenital disorders of steroid metabolism, such as congenital adrenal hyperplasia, disorders of sex development and disorders of salt homeostasis, as well as in acquired disorders of steroid metabolism, such as primary aldosteronism, Cushing's disease, Addison's disease, and hyperandrogenemia, as well as in psychiatric disease states such as depression or anxiety disorders. The principles of LC-MS/MS for steroid measurement, the pros and cons of LC-MS/MS compared with conventional immunoassays and the possible applications in clinical routine, with a special focus on pediatric endocrinology needs, are discussed here.

A rare combination of type 3 autoimmune polyendocrine syndrome (APS-3) or multiple autoimmune syndrome (MAS-3).

Science.gov (United States)

Betterle, Corrado; Garelli, Silvia; Coco, Graziella; Burra, Patrizia

2014-06-01

Type 3 autoimmune polyendocrine syndrome (APS-3) is defined by the presence of an autoimmune thyroid disease and another autoimmune illness, excluding Addison's disease; this is a frequent combination. We report the case of a 55 years old female patient with APS-3, with seven clinical or latent autoimmune manifestations. At 49 years of age she was admitted at the General Hospital for leukopenia, weight loss, tremors, anxiety and diarrhea. The personal history revealed ulcerative colitis and, during the last year, episodes of fever with migrant arthralgia and cutaneous lesions. The patient was evaluated for thyroid function and imaging, mielobiopsy, glycaemic control, gastrointestinal and rheumatologic disorders with specific biochemical tests, imaging and endoscopic procedures. We concluded that the patient was affected by APS-3, characterized by the association of Graves' disease, autoimmune leukopenia, latent autoimmune diabetes of the adult (LADA), autoimmune gastritis, ulcerative colitis, Sjögren's and anti-phospholipid syndromes. The patient started low doses of corticosteroid drugs for leukopenia, underwent (131)I therapy for hyperthyroidism and later started substitutive thyroid therapy with l-thyroxine, insulin therapy for LADA, mesalazine for ulcerative colitis and artificial tears for Sjögren's syndrome. In this article we report a complex case of APS-3, characterized by the association of seven different autoimmune diseases, which required a complex therapeutic strategy.

ICAF Financial Services Industry Study

Science.gov (United States)

2005-06-01

Mishkin , Frederic S. and Stanley G. Eakins. Financial Markets + Institutions . Boston, MA: Addison Wesley. 2003... Financial Markets , Federal Reserve Bank of New York, 1998. Mishkin , Frederic S. and Eakins, Stanley G., Financial Markets + Institutions , Fourth...discussion of the industry would be complete without an understanding of the concept of moral hazard in the financial markets . According to Mishkin

Immune thrombocytopenic purpura: A rare side effect in a patient treated with Imiquimod for lentigo maligna

Directory of Open Access Journals (Sweden)

E.A. Whatling

2017-09-01

Full Text Available Topical Imiquimod is increasingly used in the treatment of lentigo maligna (LM for patients not suitable or willing for surgery. It acts as an immune response modifier and is recommended for use with caution in patients with autoimmune disorders. A review of the literature did not reveal any reported cases of Idiopathic Thrombocytopenic Purpura (ITP with the use of Imiquimod so far. We report a case of a 55-year-old woman with a history of Addison's and Graves' disease who had been diagnosed with lentigo maligna on the right nasal ala. Within two days of commencing of topical Imiquimod treatment, she was admitted to the hospital with extensive cutaneous and mucosal bruising and treated as acute Idiopathic Throbocytopenic Purpura. Deranged platelets were reversed promptly with treatment and Imiquimod discontinued. We demonstrate that Idiopathic Throbocytopenic Purpura is a potential life-threatening side effect of Imiquimod treatment and patients who have autoimmune disorders are at increased risk of developing this side effect. We recommend that Imiquimod is contraindicated in patients with autoimmune disease. Here we describe the clinical presentation and review the relevant literature on Imiquimod treatment for lentigo maligna and its potential side effects.

A Pharmacokinetic Model of a Tissue Implantable Cortisol Sensor.

Science.gov (United States)

Lee, Michael A; Bakh, Naveed; Bisker, Gili; Brown, Emery N; Strano, Michael S

2016-12-01

Cortisol is an important glucocorticoid hormone whose biochemistry influences numerous physiological and pathological processes. Moreover, it is a biomarker of interest for a number of conditions, including posttraumatic stress disorder, Cushing's syndrome, Addison's disease, and others. An implantable biosensor capable of real time monitoring of cortisol concentrations in adipose tissue may revolutionize the diagnosis and treatment of these disorders, as well as provide an invaluable research tool. Toward this end, a mathematical model, informed by the physiological literature, is developed to predict dynamic cortisol concentrations in adipose, muscle, and brain tissues, where a significant number of important processes with cortisol occur. The pharmacokinetic model is applied to both a prototypical, healthy male patient and a previously studied Cushing's disease patient. The model can also be used to inform the design of an implantable sensor by optimizing the sensor dissociation constant, apparent delay time, and magnitude of the sensor output versus system dynamics. Measurements from such a sensor would help to determine systemic cortisol levels, providing much needed insight for proper medical treatment for various cortisol-related conditions. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Ameerika endised riigisekretärid heitsid pilgu tulevikku / Urmas Kiil

Index Scriptorium Estoniae

Kiil, Urmas

2008-01-01

Viis endist USA riigisekretäri - Henry Kissinger, James Baker, Madeleine Albright, Warren Christopher ja Colin Powell - andsid nõu tulevasele riigi presidendile, kuidas ta peaks suhtlema Venemaaga, kuidas tuleks lahendada Iraani tuumaprogrammi küsimus ja kuidas oleks võimalik taastada Ameerika prestiizhi maailmas. Vt. samas: Henry Alfred Kissinger, Madeleine Korbel Albright, Warren Minor Chistopher, Colin Luther Powell ja James Addison Baker

Generating GraphML XML Files for Graph Visualization of Architectures and Event Traces for the Monterey Phoenix Program

Science.gov (United States)

2012-09-01

ebrary) Engineering Village 2 (Engineering Village 2) ENGnetBASE: Engineering Handbooks Online (CRCnetBASE) IEEE /IET Electronic Library ( IEEE Xplore ...Integrated Development Environment IEEE Institute of Electrical and Electronics Engineers ISCA International Society for Computers and Their Applications...Object-Oriented Systems. Addison-Wesley. Bowen, J., & Hinchey, M. (1995). Seven more myths of formal methods. Software, IEEE , 34-41. Brandes, U

Extrapontine myelinolysis presenting as acute parkinsonism

Directory of Open Access Journals (Sweden)

Ditchfield A

2006-09-01

Full Text Available Abstract Background Extrapontine myelinolysis presenting with extra pyramidal features suggestive of parkinsonism may be a challenging clinical syndrome. Clinicians should maintain their vigilance while correcting electrolyte imbalances, especially with associated co-morbidity. Case presentation A 41-year-old woman presented with acute parkinsonism like features while on a holiday. This followed slow correction of hyponatraemia after repeated vomiting. MRI changes were suggestive of Extrapontine myelinolysis(EPM. This case is at variance with four previous cases reported in the medical literature in that the patient made a full clinical recovery and the MR changes resolved with symptomatic support alone. Conclusion Extrapontine myelinolysis could make a complete recovery with symptomatic support alone. During hyponatraemia correction, rapid osmotic shifts of fluid that cause hypernatremia, causes myelinolysis rather than absolute serum sodium level. Even gradual correction of hyponatraemia can produce myelinolysis, especially with pre-existing malnourishment, alcoholism, drug misuse, Addison's disease and immuno-suppression. Pallidial sparing is typical of EPM in MRI scans.

A Rare Case of Petrified Ear

Directory of Open Access Journals (Sweden)

Kathryn E. Buikema

2012-01-01

Full Text Available Calcification or ossification of the auricle, also referred to as petrified ear, is a rare diagnosis in dermatology. In medical literature, it has most often been attributed to trauma, hypothermia and frostbite, or hypercalcemia secondary to a metabolic or endocrine disorder, such as Addison's disease. Here, we report the clinical and radiologic findings of a 79-year-old African American male whose unilateral petrified auricle was an incidental finding. He had a preceding history of hyperparathyroidism and subsequent hypercalcemia treated with a subtotal parathyroidectomy three years prior to presentation. In addition to laboratory analysis, a history and physical examination was performed which revealed no other signs of hypercalcemia. Radiologic studies demonstrated partial ossification of the external auricular cartilage on the left side. The patient was diagnosed with the rare occurrence of a petrified ear. In light of this case, we provide a discussion concerning the possible etiologies of this diagnosis including appropriate patient evaluation and possible treatment recommendations.

The development of a radioimmunoassay for 18-hydroxy-corticosterone

International Nuclear Information System (INIS)

Martin, V.I.

1980-03-01

It has been suggested that 18-hydroxy-corticosterone (18-OH-B) is a precursor for aldosterone in the biosynthetic pathway. This steroid had not been measured in peripheral plasma and therefore to evaluate its clinical role a sensitive and specific radioimmunoassay was developed. The assay is described and was applied to measure the levels of 18-hydroxy-corticosterone in normal human subjects on (a) an ad libitum sodium intake whilst lying or standing, (b) on a high or low sodium intake whilst recumbent, (c) before and after treatment with either ACTH, metyrapone or dexamethasone on a high or low sodium intake whilst recumbent (d) after insulin induced hypoglycaemia and (e) after infusions of 18-hydroxy-corticosterone. The levels of 18-hydroxy-corticosterone were also measured in patients with (a) 17α-hydroxylase deficiency, (b) primary or secondary aldosteronism, (c) Bartter's syndrome, (d) Cushing's syndrome, (e) adrenalectomised patients or patient's with Addison's disease and (f) patients with essential hypertension. (author)

Development of a radioimmunoassay for 18-hydroxy-corticosterone

Energy Technology Data Exchange (ETDEWEB)

Martin, V I

1980-03-01

It has been suggested that 18-hydroxy-corticosterone (18-OH-B) is a precursor for aldosterone in the biosynthetic pathway. This steroid had not been measured in peripheral plasma and therefore to evaluate its clinical role a sensitive and specific radioimmunoassay was developed. The assay is described and was applied to measure the levels of 18-hydroxy-corticosterone in normal human subjects on (a) an ad libitum sodium intake whilst lying or standing, (b) on a high or low sodium intake whilst recumbent, (c) before and after treatment with either ACTH, metyrapone or dexamethasone on a high or low sodium intake whilst recumbent (d) after insulin induced hypoglycaemia and (e) after infusions of 18-hydroxy-corticosterone. The levels of 18-hydroxy-corticosterone were also measured in patients with (a) 17chemically bond-hydroxylase deficiency, (b) primary or secondary aldosteronism, (c) Bartter's syndrome, (d) Cushing's syndrome, (e) adrenalectomised patients or patient's with Addison's disease and (f) patients with essential hypertension. (author).

A radioimmunoassay for the detection of adrenal autoantibodies

International Nuclear Information System (INIS)

Kosowicz, J.; Gryczynska, M.; Bottazzo, G.F.

1986-01-01

A solid phase radioimmunoassay for adrenal antibodies is described. In the assay plastic tubes coated with adrenal microsomes (100 μg/ml) were incubated with human sera diluted from 1:50 to 1:5000 and the retained antibodies detected by subsequent incubation with 125 I-labelled protein A. The method was precise over the range of serum dilution of 1:250 to 1:5000. In the group of 30 patients with Addison's disease 19 had positive results in adrenal antibody radioimmunoassay (RIA). Comparative studies of RIA and immunofluorescence (IFL) revealed that there was partial correlation of adrenal antibody results in patients with high titre antibodies whereas RIA usually was more sensitive than IFL in patients with low titre antibodies. Computerized tomography (CT) displayed bilateral adrenal atrophy in most patients who had adrenal antibodies. On the other hand, patients with low RIA results and negative IFL antibodies had predominantly adrenal calcifications on scans. (author)

Beta-endorphin in the plasma: Radioimmunological determination and findings in patients showing disorders at the level of the hypothalamus-pituitary-adrenal axis

International Nuclear Information System (INIS)

Hoerl, A.

1985-01-01

Beta-endorphin and adrenocorticotropic hormone (ACTH) were determined simultaneously in the plasma using a radioimmunological procedure. It was found that in patients showing imbalances within the hypothalamus-pituitary-adrenal system (Addison's disease, Cushing's Syndrome, Nelson's Syndrome) as well as elevated levels of beta-endorphin the values of ACHT invariably were also increased. The behaviour of the plasma levels of beta-endorphin and ACTH before, during and subsequent to hypophyseal surgery gives evidence to prove the close link between the two hormones. Tests performed to examine the function of the corticotropin releasing factor (CRF) both in healthy volunteers and patients suffering from endocrinological disorders likewise pointed to a parallel behaviour pattern of the two hormones in their responding or failure to respond to stimulation. The fact that a significant correlation was established between all measured values of beta-endorphin and ACTH is further evidence in confirmation of a parallel release of these two hormones in man. (TRV) [de

The Historical Development of Immunoendocrine Concepts of Psychiatric Disorders and Their Therapy

Science.gov (United States)

Steinberg, Holger; Kirkby, Kenneth C.; Himmerich, Hubertus

2015-01-01

Relationships between the central nervous, immune and endocrine systems are a focus of psychiatric research, particularly in depression and schizophrenia. The field has long antecedents. Observed phenomena attributable to these relationships date back to the Neolithic era. Immunoendocrine theories in the broadest sense are recorded in antiquity. In the 19th century, Kraepelin and Wagner-Jauregg reported pioneering clinical observations in psychiatric patients. Von Basedow, Addison and Cushing described psychiatric symptoms in patients suffering from endocrine diseases. The 20th century opened with the identification of hormones, the first, adrenaline, chemically isolated independently by Aldrich und Takamine in 1901. Berson and Yalow developed the radioimmunoassay (RIA) technique in 1959 making it possible to measure levels of hormones and cytokines. These developments have enabled great strides in psychoimmunoendocrinology. Contemporary research is investigating diagnostic and therapeutic applications of these concepts, for example by identifying biomarkers within the endocrine and immune systems and by synthesizing and testing drugs that modulate these systems and show antidepressant or antipsychotic properties. PMID:26690116

MAGMA: A Liquid Software Approach to Fault Tolerance, Computer Network Security, and Survivable Networking

Science.gov (United States)

2001-12-01

and Lieutenant Namik Kaplan , Turkish Navy. Maj Tiefert’s thesis, “Modeling Control Channel Dynamics of SAAM using NS Network Simulation”, helped lay...DEC99] Deconinck , Dr. ir. Geert, Fault Tolerant Systems, ESAT / Division ACCA , Katholieke Universiteit Leuven, October 1999. [FRE00] Freed...Systems”, Addison-Wesley, 1989. [KAP99] Kaplan , Namik, “Prototyping of an Active and Lightweight Router,” March 1999 [KAT99] Kati, Effraim

A Literature Survey and Data Base Assessment: Microbial Fate of Diesel Fuel and Fog Oils,

Science.gov (United States)

1986-04-01

PA. 105. Atlas , R.M. and R. Bartha . 1981. Microbial Ecology : Fundamentals and Applications. Chapter 8. Interactions between microorganisms. Addison...Degradation or transformation of petroleum hydrocarbons is widespread among microorganisms from a taxonomic point of view. Bartha and Atlas 8 7 listed 22...fatty acids if 0- oxidation is lacking ( Atlas and Bartha , 1973),114 and oxidation products of aromatic hydrocarbons (Calder and Lader, 1976).115 The

Interactional Psychology and Organizational Behavior.

Science.gov (United States)

1982-02-01

source of most data supporting a social constructionist view of job attitudes. But perhaps equally important was the finding that in socialization , job...complex organizations (Rev. ed.). New York: Free Press, 1975. Fairweather, G. W., & Tornatsky, L. G. Experimental methods for social policy research... socialization of newcomers. Reading, MA: Addison-Wesley, 1980. Weick, K. E. Organizations in the laboratory. In V. H. Vroom (Ed.), Methods of

40 CFR 52.2375 - Attainment dates for national standards.

Science.gov (United States)

2010-07-01

... Interstate—Chittenden County: Champlain Valley Air Management Area: Essex Town (including Essex Jct.) a a a a... Air Management Area a a a a b b Remainder of County a a a a a b Vermont Valley Air Management Area a a a a a a Addison County a a a a a b Remainder of AQCR a a a a a a Vermont Interstate: Central Vermont...

A Study of Organizational Information Search, Acquisition, Storage and Retrieval

Science.gov (United States)

1986-08-01

on organizational structures and processes are akin to the effects on the coping behaviors of individuals (Driver and Streufert, 1969; Farace , Monge...Crriizaiiorial Environment. Human Relations, 18: 21-32. Farace , R.B., Monge, P. R., & Russell, H. M. 1977. Crnmunicatino and Organizing. Reading, MA: Addison...inputs required for an organization to perform its tasks ( Farace , Monge, and Russell, 1977). Information load is reflected in the amount of

Financial Services: A Report on the Industry 2004

Science.gov (United States)

2004-06-01

Better-Educated Workforce.” Washington Post, Feb 21, 2004, p. E-1. Mishkin , Frederic S. and Eakins, Stanley G. Financial Markets + Institutions , 4th...Frederick S. and Eakins, Stanley G. Financial Markets and Institutions . New York: Addison Wesley 2003, 4th edition, p. 449. xviii Standard...There is a need to improve Defense Department financial policies and procedures. A better understanding of the behavior of capital markets

The Genetic-Algorithm-Based Normal Boundary Intersection (GANBI) Method; An Efficient Approach to Pareto Multiobjective Optimization for Engineering Design

Science.gov (United States)

2006-05-15

of different evolutionary approaches to multiobjective optimal design are given by Van Veldhuizen ,7 Van Veldhuizen and Lamont,8 and Zitzler and Thiele...and Machine Learning, Addison-Wesley, Boston, 1989. 7. D. A. Van Veldhuizen , "Multiobjective Evolutionary Algorithms: Classifications, Analyses, and...New Innovations," Ph.D. Dissertation, Air Force Institute of Technology, 1999. 39 8. D. A. Van Veldhuizen and G. B. Lamont, "Multiobjective

Genetic and immunologic aspects of autoimmune poliendocrine syndrome type I: review

Directory of Open Access Journals (Sweden)

Alice Rachel Bandeira de Araújo

2016-10-01

Full Text Available The autoimmune polyendocrinopathy syndrome type 1 (APS-1, also known as candidiasis ectodermal-autoimmune polyendocrinopathy-dystrophy (APECED, it is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE. Therefore, it is immunologically characterized by cell attack and / or antibodymediated generating the destruction of target organs. Furthermore, it is characterized by the pathognomonic triad chronic candidiasis, hypoparathyroidism and Addison's disease with many other endocrine and non-endocrine events. Soon, the diagnosis is made based on the presence of two of the three classic features and treatment aims to control the numerous deficiencies that patients may present. This literature review was aimed at understanding the involvement of AIRE gene in relation to immunological aspects present and, consequently, clinical manifestations of this disease. Thus, evidence of the need to broaden the discussion about this disease, in order to improve the quality of life of patients by early diagnosis and treatment and are in accordance with the clinical manifestations of each patient. Thereby, qualitative research involved scientific articles from electronic journals LILACS (Latin American and Caribbean, SCIELO (Scientific Electronic Library Online and NCBI (National Center for Biotechnology Information, between the years 2009 and 2016. Pursuant to, there is the relevance of this review, it is noted that, although the authors converge on views on this syndrome, there are still many unclear matters with regard to the mechanisms of the disease. This highlights the need to promote more discussion on this topic.

Union Directions - Army Response.

Science.gov (United States)

1985-12-06

reflects the long-held belief in the Army that employee participation in decisions that affect their worklife is healthy and desirable. Although some...pluralistic society, checks and balances are as important for the economy as for the government. Business executives who salivate at the thought of vanishing...Unions. Reading, MA: Addison-Wesley, 1976. 37. National Federation of Federal Employees. NFFE’s Guide to Quality of Worklife Programs. No. G-21

Wall Climbing Micro Ground Vehicle (MGV)

Science.gov (United States)

2013-09-01

Teheran, Iran, 2004. 4. Hill, P.; Peterson, C. The Centrifugal Compressor . In Mechanics and Thermodynamics of Propulsion, 2 nd ed.; Addison-Wesley...impeller one may choose from an axial or centrifugal impeller. Impellers are designed so that they are used for a specific application. If used for other...purposes, severe mechanical damage may be inflicted upon the impeller. In this situation, a centrifugal impeller is chosen due to its ability to

A Programmer’s Assistant for a Special-Purpose Dataflow Language.

Science.gov (United States)

1985-12-01

valueclasscheck ’strict)) load-qda-kbs Loads the 6DA knowledge bases (defun Ioad-qda-kbs 0) Idolist (kb foda -kbst) (kbload (strino-append ’host-dir...DeMarco, T., "Structured Analysis and System Specification," GUIDE 47 Proceedings, 1978. Reprinted in Classics in Software Engineering, edited by Edward...and Andries Van Dam. Fundamentals of Interactive Computer Graphics. Reading MA: Addison-Wesley Publishing Company , 1982. Intellicorp, Software

Characterization of Microstructure with Low Frequency Electromagnetic Techniques (Preprint)

Science.gov (United States)

2014-02-01

654. 2. G. T. Meaden, Electrical Resistance of Metals, Plenum, New York 1965. 3. G. A. Sargent, K. T. Kinsel, A. L. Pilchak, A. A. Salem , S. L...effect on materials properties. Cambridge university press . 5. Theodoulidis, T., & Kriezis, E. (2005). Series expansions in eddy current nondestructive...analysis, J. Appl . Phys. 89, 2473 (2001). 8. Cheng, D. K., Field and Wave Electromagnetics, Addison-Wiley Publishing Company, Inc., 1989. 9

Spring 2008 Industry Study: Financial Services Industry

Science.gov (United States)

2008-01-01

04/24/can-wall-street-regulate- itself/. Mishkin , Frederic S. and Stanley G. Eakins. Financial Markets and Institutions . 4th ed. 2004, Addison...Security Strategy that designates as a priority the “pressing for open markets , financial stability, and deeper integration of the world economy.”1...were lured to new, innovative, and often very complex financial vehicles. In order to address the shortcomings of the free market , new regulatory

AFOSR Mission Critical STEAM Program

Science.gov (United States)

2014-02-10

Psychology 3.25 Junior Devin Frederick Computer Science 3.26 Junior Michael Johnson Computer Science 3.8 Junior Tre Addison Computer Science 3.6...universities on the island and has a strong tradition of training leaders in engineering and entrepreneurship . 28 The TMCF delegation met with Dr. Sheng...of relevant theory and data on research-based interventions in Vocational Psychology that can be used to develop programs and support services to

United States Air Force Summer Research Program 1991. Summer Faculty Research Program (SFRP) Reports. Volume 5B. Wright Laboratory

Science.gov (United States)

1992-01-09

Design, Addison-Wesley, 1989. 28. Thompson, Peter M., Pro&m CC Version 4 Tutorial and User’s Guide. STI, November, 1988. 29. Bacon, BJ., Schmidt, D.K...6rd USG: pp -C Tre .ser ernv~rr..e--= i e _-es=--. zec --re. ENVI t-e tase .Be- -- Cvi-onmert ;cr cer’er,?’ L-e v..tr mscros tl%:t ar-iv’ec %t the prog

Adrenal crisis provoked by dental infection: case report and review of the literature.

Science.gov (United States)

Milenkovic, Ana; Markovic, Dejan; Zdravkovic, Dragan; Peric, Tamara; Milenkovic, Tatjana; Vukovic, Rade

2010-09-01

Primary adrenal insufficiency is an endocrine disorder characterized by cortisol and aldosterone deficiency caused by destruction of the adrenal cortex. Adrenal crisis is a medical emergency with acute symptoms: nausea, vomiting, abdominal pain, fever, hypoglycemia, seizures, hypovolemic shock, and cardiovascular failure. It occurs in patients with chronic adrenal insufficiency who are exposed to additional stress, such as infection, trauma, or surgical procedures. Dental infection is a possible cause of adrenal crisis in patients with chronic adrenal insufficiency, so pediatric endocrinologists and pediatric dentists should be aware of this risk. The purpose of this report was to present a 6-year-old patient in whom Addison disease was diagnosed through adrenal crisis provoked by dental infection. The patient was treated with intravenous rehydration, intravenous hydrocortisone and antibiotics, and extraction of the infected primary tooth. Multidisciplinary approach and collaboration between the pediatric endocrinologist and the pediatric dentist are necessary to enable adequate medical and dental treatment in children with primary adrenal insufficiency. Copyright (c) 2010 Mosby, Inc. All rights reserved.

The eye as a window to rare endocrine disorders

Science.gov (United States)

Chopra, Rupali; Chander, Ashish; Jacob, Jubbin J.

2012-01-01

The human eye, as an organ, can offer critical clues to the diagnosis of various systemic illnesses. Ocular changes are common in various endocrine disorders such as diabetes mellitus and Graves’ disease. However there exist a large number of lesser known endocrine disorders where ocular involvement is significant. Awareness of these associations is the first step in the diagnosis and management of these complex patients. The rare syndromes involving the pituitary hypothalamic axis with significant ocular involvement include Septo-optic dysplasia, Kallman's syndrome, and Empty Sella syndrome all affecting the optic nerve at the optic chiasa. The syndromes involving the thyroid and parathyroid glands that have ocular manifestations and are rare include Mc Cune Albright syndrome wherein optic nerve decompression may occur due to fibrous dysplasia, primary hyperparathyroidism that may present as red eye due to scleritis and Ascher syndrome wherein ptosis occurs. Allgrove's syndrome, Cushing's disease, and Addison's disease are the rare endocrine syndromes discussed involving the adrenals and eye. Ocular involvement is also seen in gonadal syndromes such as Bardet Biedl, Turner's, Rothmund's, and Klinefelter's syndrome. This review also highlights the ocular manifestation of miscellaneous syndromes such as Werner's, Cockayne's, Wolfram's, Kearns Sayre's, and Autoimmune polyendocrine syndrome. The knowledge of these relatively uncommon endocrine disorders and their ocular manifestations will help an endocrinologist reach a diagnosis and will alert an ophthalmologist to seek specialty consultation of an endocrinologist when encountered with such cases. PMID:22629495

Some Important Diseases of Tree Fruits - Diseases of Vegetable Crops - Diseases of Grapes - Diseases of Tree Nuts.

Science.gov (United States)

Petersen, Donald H.; And Others

This agriculture extension service publication from Pennsylvania State University consists of four sections on plant disease recognition and control. The titles of these four sections are: (1) Some Important Diseases of Tree Fruits; (2) Diseases of Vegetable Crops; (3) Diseases of Crops; and (4) Diseases of Tree Nuts. The first section discusses…

Renal disease in patients with celiac disease.

Science.gov (United States)

Boonpheng, Boonphiphop; Cheungpasitporn, Wisit; Wijarnpreecha, Karn

2018-04-01

Celiac disease, an inflammatory disease of small bowel caused by sensitivity to dietary gluten and related protein, affects approximately 0.5-1% of the population in the Western world. Extra-intestinal symptoms and associated diseases are increasingly recognized including diabetes mellitus type 1, thyroid disease, dermatitis herpetiformis and ataxia. There have also been a number of reports of various types of renal involvement in patients with celiac disease including diabetes nephropathy, IgA nephropathy, membranous nephropathy, membranoproliferative glomerulonephritis, nephrotic syndrome related to malabsorption, oxalate nephropathy, and associations of celiac disease with chronic kidney disease and end-stage kidney disease. This review aims to present the current literature on possible pathologic mechanisms underlying renal disease in patients with celiac disease.

Software Architecture for Anti-Submarine Warfare Unmanned Surface Vehicles

Science.gov (United States)

2016-09-01

would ordinarily require the placement of more sonobuoys in the predicted path of the submarine, but if the USVs could sprint ahead just a few hundred...few yards/ meters . Once an agent has accurately resolved their current position on the globe, and identified obstacles to avoid, the task of navigation...Software Engineering with Abstractions. Reading, MA: Addison-Wesley, 1991. [7] B. Harris, “Hitler’s Lost Sub: 400 Years of Subs (1580-1861),” PBS, 2016

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

OpenAIRE

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

2007-01-01

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...

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

2007-08-01

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.

[Periodontal disease in pediatric rheumatic diseases].

Science.gov (United States)

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

2014-01-01

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.

Screen-detected gallstone disease and cardiovascular disease

DEFF Research Database (Denmark)

Shabanzadeh, Daniel Mønsted; Skaaby, Tea; Sørensen, Lars Tue

2017-01-01

Knowledge about temporal associations for screen-detected gallstone disease and cardiovascular disease is limited. The objective of this study was to determine if screen-detected gallstones or cholecystectomy was associated with development of cardiovascular disease. A cohort study of three...... of cardiovascular disease through nationwide registers until December 2014. Multivariable Cox regression analyses were performed including traditional cardiovascular disease risk factors and apolipoprotein E genotype. Gallstone disease was identified in 10% (591/5928) of participants at baseline of whom 6.8% had...... gallstones and 3.2% had cholecystectomy. The study population was followed for a period of 32 years with only 1% lost to follow-up. Gallstone disease was associated with all cardiovascular disease (hazard ratio (HR) 1.36, 95% confidence interval (CI) [1.17;1.59]) and to the subgroups coronary artery (HR 1...

Evaluating Galactic Habitability Using High Resolution Cosmological Simulations of Galaxy Formation

OpenAIRE

Forgan, Duncan; Dayal, Pratika; Cockell, Charles; Libeskind, Noam

2015-01-01

D. F. acknowledges support from STFC consolidated grant ST/J001422/1, and the ‘ECOGAL’ ERC Advanced Grant. P. D. acknowledges the support of the Addison Wheeler Fellowship awarded by the Institute of Advanced Study at Durham University. N. I. L. is supported by the Deutsche Forschungs Gemeinschaft (DFG). We present the first model that couples high-resolution simulations of the formation of local group galaxies with calculations of the galactic habitable zone (GHZ), a region of space which...

pH Dependent Spin State Population and 19F NMR Chemical Shift via Remote Ligand Protonation in an Iron(II) Complex (Postprint)

Science.gov (United States)

2017-12-11

Kershaw Cook , F. Tuna and M. A. Halcrow, Dalton Trans., 2013, 42, 2254. 21 Z. Derikvand, M. M. Olmstead, B. Q. Mercado, A. Shokrollahi and M. Shahryari...L. E. Reuther, C. J. Herbst-Gervasoni, J. J. Paul, V. Mochalin, M. Zeller, C. M. Thomas , A. W. Addison and E. T. Papish, Inorg. Chem., 2013, 52...Educ., 1992, 69, 62. 30 O. Kahn, Molecular Magnetism, VCH Publishers, Inc., New York, NY, 1993. 31 L. J. Kershaw Cook , R. Kulmaczewski, R. Mohammed, S

Characterization of Magnetron Sputtered Copper-Nickel Thin Film and Alloys

Science.gov (United States)

2016-09-01

operating at 40 kV and 44 mA current. Surface morphology was investigated by an atomic force microscopy (AFM) Veeco Nanoman system. The...Research Laboratory (US); 2016. Report No.: ARL-TR-7593. 3. Cullity BD. Elements of X-ray diffraction. Reading ( MA ): Addison-Wesley; 1978. p. 101–102...JORDAN RDRL SER L D POTREPKA RDRL-SED L M ERVIN RDRL SER L M SROUR RDRL SER L R POLCAWICH RDRL SER L R BENOIT RDRL SER E G BIRDWELL

Lysosomal storage disease 2 - Pompe's disease

NARCIS (Netherlands)

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

2008-01-01

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

Farber's Disease

Science.gov (United States)

... management, and therapy of rare diseases, including the lipid storage diseases. Research on lipid storage diseases within the Network includes ... management, and therapy of rare diseases, including the lipid storage diseases. Research on lipid storage diseases within the Network includes ...

Association between periodontal diseases and systemic diseases

Directory of Open Access Journals (Sweden)

Patrícia Weidlich

2008-08-01

Full Text Available 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 regarding pneumonia. Although the majority of them observed an association between periodontitis and systemic conditions, a causal relationship still needs to be demonstrated. Further studies, particularly interventional well-designed investigations, with larger sample sizes, need to be conducted in Brazilian populations.

Link Between Celiac Disease and Inflammatory Bowel Disease.

Science.gov (United States)

Shah, Ayesha; Walker, Marjorie; Burger, Daniel; Martin, Neal; von Wulffen, Moritz; Koloski, Natasha; Jones, Mike; Talley, Nicholas J; Holtmann, Gerald J

2018-05-14

The aim of this analysis was to assess in patients with inflammatory bowel disease (IBD) the risk of celiac disease and in celiac disease patients the risk of IBD. Previous studies report a possible association between IBD and celiac disease; however, this link is controversial. Using the search terms "inflammatory bowel disease" and "celiac disease," we identified initially 1525 publications. In total 27 studies met inclusion criteria. Proportions and 95% confidence intervals (CIs) for the prevalence of IBD in celiac disease and vice versa were compared with published prevalence rates for the respective geographic regions. We included 41,482 adult IBD patients (20,357 with Crohn's disease; 19,791 with ulcerative colitis; and 459 patients with celiac disease). Overall, in IBD patients the prevalence of celiac disease was 1110/100,000 (95% CI, 1010-1210/100,000) as compared with a prevalence of 620/100,000 (95% CI, 610-630/100,000) in the respective populations (odds ratio, 2.23; 95% CI, 1.99-2.50). In contrast, in patients with celiac disease, 2130/100,000 had IBD (95% CI, 1590-2670/100,000) as compared with 260/100,000 (95% CI, 250/100,000-270/100,000) in the respective populations (odds ratio, 11.10; 95% CI, 8.55-14.40). This effect was not different for ulcerative colitis and Crohn's disease. Although there was no evidence for publication bias for celiac disease in IBD, the funnel plot suggested that the association between IBD in celiac disease might be influenced by publication bias. The data are consistent with the notion that celiac disease is a risk factor for IBD and to lesser degree patients with IBD have an increased risk of celiac disease.

[Autoimmune thyroid disease and other non-endocrine autoimmune diseases].

Science.gov (United States)

Dilas, Ljiljana Todorović; Icin, Tijana; Paro, Jovanka Novaković; Bajkin, Ivana

2011-01-01

Autoimmune diseases are chronic conditions initiated by the loss of immunological tolerance to self-antigens. They constitute heterogeneous group of disorders, in which multiple alterations in the immune system result in a spectrum of syndromes that either target specific organs or affect the body systematically. Recent epidemiological studies have shown a possible shift of one autoimmune disease to another or the fact that more than one autoimmune disease may coexist in a single patient or in the same family. Numerous autoimmune diseases have been shown to coexist frequently with thyroid autoimmune diseases. AUTOIMMNUNE THYROID DISEASE AND OTHER ORGAN SPECIFIC NON-ENDOCRINE AUTOIMMUNE DISEASES: This part of the study reviews the prevalence of autoimmune thyroid disease coexisting with: pernicious anaemia, vitiligo, celiac disease, autoimmune liver disease, miastenia gravis, alopecia areata and sclerosis multiplex, and several recommendations for screening have been given. AUTOIMMUNE THYROID DISEASE AND OTHER ORGAN NON-SPECIFIC NON-ENDOCRINE AUTOIMMUNE DISEASES: Special attention is given to the correlation between autoimmune thyroid disease and rheumatoid arthritis, systemic lupus erythematosus, syndrome Sjögren, systemic sclerosis and mixed connective tissue disease. Screening for autoimmune thyroid diseases should be recommended in everyday clinical practice, in patients with primary organ-specific or organ non-specific autoimmune disease. Otherwise, in patients with primary thyroid autoimmune disease, there is no good reason of seeking for all other autoimmune diseases, although these patients have a greater risk of developing other autoimmune disease. Economic aspects of medicine require further analyzing of these data, from cost/benefit point of view to justified either mandatory screening or medical practitioner judgment.

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

African Journals Online (AJOL)

Huntington's disease is an inherited intricate brain illness. It is a neurodegenerative, insidious disorder; the onset of the disease is very late to diagnose. It is caused by an expanded CAG repeat in the Huntingtin gene, which encodes an abnormally long polyglutamine repeat in the Huntingtin protein. Huntington's disease ...

Endocrine Diseases

Science.gov (United States)

... Syndrome (PCOS) Pregnancy and Thyroid Disease Primary Hyperparathyroidism Prolactinoma Thyroid Tests Turner Syndrome Contact Us The National ... Management Liver Disease Urologic Diseases Endocrine Diseases Diet & Nutrition Blood Diseases Diagnostic Tests La información de la ...

Utilizing Geographic Information Systems (GIS) to analyze geographic and demographic patterns related to forensic case recovery locations in Florida.

Science.gov (United States)

Kolpan, Katharine E; Warren, Michael

2017-12-01

This paper highlights how Geographic Information Systems (GIS) can be utilized to analyze biases and patterns related to physical and cultural geography in Florida. Using case recovery locations from the C. Addison Pound Human Identification Laboratory (CAPHIL), results indicate that the majority of CAPHIL cases are recovered from urban areas with medium to low population density and low rates of crime. The results also suggest that more accurate record keeping methods would enhance the data. Copyright © 2017 Elsevier B.V. All rights reserved.

Evaluation of impact of PAH on a tropical fish, Oreochromis mossambicus using multiple biomarkers

Digital Repository Service at National Institute of Oceanography (India)

Shailaja, M.S.; DeSilva, C.

.-S., Addison, R.F., 1990. Experimental and environmental induction of cytochrome P450E in fish from Bermuda waters. Journal of Experimental Marine Biology& Ecology 138, 49–67. Stegeman, J.J., Woodin, B.R., Singh, H., Oleksiak, M.F., Celander, M., 1997...D phy,Dona form 1. Introduction [e.g., polycyclic aromatic hydrocarbons (PAHs), pesti- cides, polychlorinated biphenyls (PCBs), etc.] and inor- ganic (viz., heavymetals such as Hg, Cd, Pb and Cu), 1991; Collier et al., 1992a; Goksøyr and F€oorlin, 1992...

Autoimmune polyglandular syndrome in a 13-year old girl

DEFF Research Database (Denmark)

Borgwardt, L.; Pedersen, P.; Peitersen, B.

2008-01-01

Autoimmune polyglandular syndrome (APS) is an entity, defined by autoimmunity towards two or more endocrine organs. APS is classified in 3 subgroups (type-1, type-2a, type-2b), according to the organs involved. A case is presented of a 13-year old girl referred to the Department of Paediatrics...... with hypothyroidism, subsequently diagnosed adrenocortical insufficiency and impending Addison crisis, typical for APS-type 2a. In the paper we discuss the need for more attention to APS in clinical work Udgivelsesdato: 2008/9/29...

Element sharing in interleaved antenna arrays

CSIR Research Space (South Africa)

Du Plessis, WP

2012-03-01

Full Text Available , there is a large variation in the results for a small number of shared elements which reduces as the number of times the GA is run increases. Taken together, these points suggest that the GA implemented here does not provide consistently good results when... levels in linear arrays,? IEEE Antennas Wirel. Propag. Lett., vol. 9, pp. 771?774, 2010. [11] D. E. Goldberg, Genetic algorithms in search, optimization, and machine learning. Addison-Wesley, 1989. [12] T. Blickle and L. Thiele, ?A comparison...

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Science.gov (United States)

2017-09-28

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

Ribbing disease

International Nuclear Information System (INIS)

Mukkada, Philson J; Franklin, Teenu; Rajeswaran, Rangasami; Joseph, Santhosh

2010-01-01

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

Liposomes for Targeted Delivery of Active Agents against Neurodegenerative Diseases (Alzheimer's Disease and Parkinson's Disease

Directory of Open Access Journals (Sweden)

Carlos Spuch

2011-01-01

Full Text Available Neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease represent a huge unmet medical need. The prevalence of both diseases is increasing, but the efficacy of treatment is still very limited due to various factors including the blood brain barrier (BBB. Drug delivery to the brain remains the major challenge for the treatment of all neurodegenerative diseases because of the numerous protective barriers surrounding the central nervous system. New therapeutic drugs that cross the BBB are critically needed for treatment of many brain diseases. One of the significant factors on neurotherapeutics is the constraint of the blood brain barrier and the drug release kinetics that cause peripheral serious side effects. Contrary to common belief, neurodegenerative and neurological diseases may be multisystemic in nature, and this presents numerous difficulties for their potential treatment. Overall, the aim of this paper is to summarize the last findings and news related to liposome technology in the treatment of neurodegenerative diseases and demonstrate the potential of this technology for the development of novel therapeutics and the possible applications of liposomes in the two most widespread neurodegenerative diseases, Alzheimer's disease and Parkinson's disease.

Women's Heart Disease: Heart Disease Risk Factors

Science.gov (United States)

... this page please turn JavaScript on. Feature: Women's Heart Disease Heart Disease Risk Factors Past Issues / Winter 2014 Table ... or habits may raise your risk for coronary heart disease (CHD). These conditions are known as risk ...

The Relationship Between Fatty Liver Disease and Periodontal Disease

Science.gov (United States)

2017-03-22

Periodontitis is a highly prevalent and destructive chronic disease. Numerous studies support an association between periodontal disease and other...destruction seen in periodontal disease. The association between the two diseases has never been investigated. A reasonable mechanism in which periodontal ...disease may play a role in the destruction seen in NAFLD is the remote site infection of periodontal disease. Chewing and oral hygiene measures lead to

Nonalcoholic fatty liver disease - A multisystem disease?

Science.gov (United States)

Mikolasevic, Ivana; Milic, Sandra; Turk Wensveen, Tamara; Grgic, Ivana; Jakopcic, Ivan; Stimac, Davor; Wensveen, Felix; Orlic, Lidija

2016-01-01

Non-alcoholic fatty liver disease (NAFLD) is one of the most common comorbidities associated with overweight and metabolic syndrome (MetS). Importantly, NAFLD is one of its most dangerous complications because it can lead to severe liver pathologies, including fibrosis, cirrhosis and hepatic cellular carcinoma. Given the increasing worldwide prevalence of obesity, NAFLD has become the most common cause of chronic liver disease and therefore is a major global health problem. Currently, NAFLD is predominantly regarded as a hepatic manifestation of MetS. However, accumulating evidence indicates that the effects of NAFLD extend beyond the liver and are negatively associated with a range of chronic diseases, most notably cardiovascular disease (CVD), diabetes mellitus type 2 (T2DM) and chronic kidney disease (CKD). It is becoming increasingly clear that these diseases are the result of the same underlying pathophysiological processes associated with MetS, such as insulin resistance, chronic systemic inflammation and dyslipidemia. As a result, they have been shown to be independent reciprocal risk factors. In addition, recent data have shown that NAFLD actively contributes to aggravation of the pathophysiology of CVD, T2DM, and CKD, as well as several other pathologies. Thus, NAFLD is a direct cause of many chronic diseases associated with MetS, and better detection and treatment of fatty liver disease is therefore urgently needed. As non-invasive screening methods for liver disease become increasingly available, detection and treatment of NAFLD in patients with MetS should therefore be considered by both (sub-) specialists and primary care physicians. PMID:27920470

Cardiovascular diseases

International Nuclear Information System (INIS)

Kodama, Kazunori

1992-01-01

This paper is aimed to discuss the involvement of delayed radiation effects of A-bomb exposure in cardiovascular diseases. First, the relationship between radiation and cardiovascular diseases is reviewed in the literature. Animal experiments have confirmed the relationship between ionizing radiation and vascular lesions. There are many reports which describe ischemic heart disease, cervical and cerebrovascular diseases, and peripheral disease occurring after radiation therapy. The previous A-bomb survivor cohort studies, i.e., the RERF Life Span Study and Adult Health Study, have dealt with the mortality rate from cardiovascular diseases, the prevalence or incidence of cardiovascular diseases, pathological findings, clinical observation of arteriosclerosis, ECG abnormality, blood pressure abnormality, and cardiac function. The following findings have been suggested: (1) A-bomb exposure is likely to be involved in the mortality rate and incidence of ischemic heart disease and cerebrovascular diseases; (2) similarly, the involvement of A-bomb exposure is considered in the prevalence of the arch of aorta; (3) ECG abnormality corresponding to ischemic heart disease may reflect the involvement of A-bomb exposure. To confirm the above findings, further studies are required on the basis of more accurate information and the appropriate number of cohort samples. Little evidence has been presented for the correlation between A-bomb exposure and both rheumatic heart disease and congenital heart disease. (N.K.) 88 refs

Perianal disease, small bowel disease, smoking, prior steroid or early azathioprine/biological therapy are predictors of disease behavior change in patients with Crohn's disease.

Science.gov (United States)

Lakatos, Peter Laszlo; Czegledi, Zsofia; Szamosi, Tamas; Banai, Janos; David, Gyula; Zsigmond, Ferenc; Pandur, Tunde; Erdelyi, Zsuzsanna; Gemela, Orsolya; Papp, Janos; Lakatos, Laszlo

2009-07-28

To assess the combined effect of disease phenotype, smoking and medical therapy [steroid, azathioprine (AZA), AZA/biological therapy] on the probability of disease behavior change in a Caucasian cohort of patients with Crohn's disease (CD). Three hundred and forty well-characterized, unrelated, consecutive CD patients were analyzed (M/F: 155/185, duration: 9.4 +/- 7.5 years) with a complete clinical follow-up. Medical records including disease phenotype according to the Montreal classification, extraintestinal manifestations, use of medications and surgical events were analyzed retrospectively. Patients were interviewed on their smoking habits at the time of diagnosis and during the regular follow-up visits. A change in disease behavior was observed in 30.8% of patients with an initially non-stricturing, non-penetrating disease behavior after a mean disease duration of 9.0 +/- 7.2 years. In a logistic regression analysis corrected for disease duration, perianal disease, smoking, steroid use, early AZA or AZA/biological therapy use were independent predictors of disease behavior change. In a subsequent Kaplan-Meier survival analysis and a proportional Cox regression analysis, disease location (P = 0.001), presence of perianal disease (P < 0.001), prior steroid use (P = 0.006), early AZA (P = 0.005) or AZA/biological therapy (P = 0.002), or smoking (P = 0.032) were independent predictors of disease behavior change. Our data suggest that perianal disease, small bowel disease, smoking, prior steroid use, early AZA or AZA/biological therapy are all predictors of disease behavior change in CD patients.

Celiac disease and new diseases related to gluten

Science.gov (United States)

Jiménez Ortega, Ana Isabel; Martínez García, Rosa María; Quiles Blanco, María José; Majid Abu Naji, Jamil Abdel; González Iglesias, María José

2016-07-12

Celiac disease is the most common chronic intestinal disease. Nowadays it´s known that this is a multisistemic pathology of immune mechanism, triggered by gluten, which occurs in genetically susceptible individuals. It affects approximately 1% of the world population, which is a very high prevalence, affects all age groups and has symptoms both digestive and extra-digestive. Since it is a disease that requires maintaining a gluten-free diet and medical monitoring for life, it is important to know it and establish its diagnosis properly. Along with celiac disease a number of new diseases related to gluten are diagnosed increasingly, including the non celiac gluten sensitivity or wheat allergy. The suffering of celiac disease, or other related diseases, by conditioning diet changes of the affected individual, it may be associated with nutritional imbalances that need to monitor and try to solve. Therefore patients with this problem need special nutritional advice.

Refractory disease in autoimmune diseases

NARCIS (Netherlands)

Vasconcelos, Carlos; Kallenberg, Cees; Shoenfeld, Yehuda

Refractory disease (RD) definition has different meanings but it is dynamic, according to knowledge and the availability of new drugs. It should be differentiated from severe disease and damage definitions and it must take into account duration of adequate therapy and compliance of the patient. It

Thyroid diseases and cerebrovascular disease

NARCIS (Netherlands)

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

2005-01-01

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

A disease state fingerprint for evaluation of Alzheimer's disease

DEFF Research Database (Denmark)

Mattila, Jussi; Koikkalainen, Juha; Virkki, Arho

2011-01-01

Diagnostic processes of Alzheimer's disease (AD) are evolving. Knowledge about disease-specific biomarkers is constantly increasing and larger volumes of data are being measured from patients. To gain additional benefits from the collected data, a novel statistical modeling and data visualization...... interpretation of the information. To model the AD state from complex and heterogeneous patient data, a statistical Disease State Index (DSI) method underlying the DSF has been developed. Using baseline data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), the ability of the DSI to model disease......'s degree of similarity to previously diagnosed disease population. A summary of patient data and results of the computation are displayed in a succinct Disease State Fingerprint (DSF) visualization. The visualization clearly discloses how patient data contributes to the AD state, facilitating rapid...

Dermatological diseases in patients with chronic kidney disease.

Science.gov (United States)

Gagnon1, Amy L; Desai, Tejas

2013-04-01

There are a variety of dermatological diseases that are more commonly seen in patients with chronic kidney disease (CKD) and renal transplants than the general population. Directory of Open Access Journals (DOAJ), Google Scholar, Pubmed (NLM), LISTA (EBSCO) and Web of Science has been searched. Some cutaneous diseases are clearly unique to this population. Of them, Lindsay's Nails, xerosis cutis, dryness of the skin, nephrogenic systemic fibrosis and acquired perforating dermatosis have been described in chronic kidney disease patients. The most common malignancy found in all transplant recipients is non-melanoma skin cancer. It is important for patients and physicians to recognize the manifestations of skin disease in patients suffering from chronic kidney disease to mitigate the morbidity associated with these conditions.

Heart Diseases

Science.gov (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 ...

Estrogen-related and other disease diagnoses preceding Parkinson's disease

DEFF Research Database (Denmark)

Latourelle, Jeanne C; Dybdal, Merete; Destefano, Anita L

2010-01-01

Estrogen exposure has been associated with the occurrence of Parkinson's disease (PD), as well as many other disorders, and yet the mechanisms underlying these relations are often unknown. While it is likely that estrogen exposure modifies the risk of various diseases through many different...... mechanisms, some estrogen-related disease processes might work in similar manners and result in association between the diseases. Indeed, the association between diseases need not be due only to estrogen-related factors, but due to similar disease processes from a variety of mechanisms....

Graves' Disease

Science.gov (United States)

... 2011 survey of clinical practice patterns in the management of Graves' disease. Journal of Clinical Endocrinology and Metabolism. 2012 Dec;97( ... 30 a.m. to 5 p.m. eastern time, M-F Follow Us NIH… Turning Discovery Into ... Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

Gastroesophageal Reflux Disease in Children with Interstitial Lung Disease.

Science.gov (United States)

Dziekiewicz, M A; Karolewska-Bochenek, K; Dembiński, Ł; Gawronska, A; Krenke, K; Lange, J; Banasiuk, M; Kuchar, E; Kulus, M; Albrecht, P; Banaszkiewicz, A

2016-01-01

Gastroesophageal reflux disease is common in adult patients with interstitial lung disease. However, no data currently exist regarding the prevalence and characteristics of the disease in pediatric patients with interstitial lung disease. The aim of the present study was to prospectively assess the incidence of gastroesophageal reflux disease and characterize its features in children with interstitial lung disease. Gastroesophageal reflux disease was established based on 24 h pH-impedance monitoring (MII-pH). Gastroesophageal reflux episodes (GERs) were classified according to widely recognized criteria as acid, weakly acid, weakly alkaline, or proximal. Eighteen consecutive patients (15 boys, aged 0.2-11.6 years) were enrolled in the study. Gastroesophageal reflux disease was diagnosed in a half (9/18) of children. A thousand GERs were detected by MII-pH (median 53.5; IQR 39.0-75.5). Of these, 585 (58.5 %) episodes were acidic, 407 (40.7 %) were weakly acidic, and eight (0.8 %) were weakly alkaline. There were 637 (63.7 %) proximal GERs. The patients in whom gastroesophageal reflux disease was diagnosed had a significantly higher number of proximal and total GERs. We conclude that the prevalence of gastroesophageal reflux disease in children with interstitial lung disease is high; thus, the disease should be considered regardless of presenting clinical symptoms. A high frequency of non-acid and proximal GERs makes the MII-pH method a preferable choice for the detection of reflux episodes in this patient population.

Disease-modifying drugs in Alzheimer's disease

Directory of Open Access Journals (Sweden)

Ghezzi L

2013-12-01

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

A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report

Directory of Open Access Journals (Sweden)

Cakan Nedim

2009-12-01

Full Text Available Abstract Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy. Case presentation A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation. Conclusion The presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.

A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1.

Directory of Open Access Journals (Sweden)

Junyu Zhang

Full Text Available Autoimmune polyendocrine syndrome type 1 (APS-1 is a rare autosomal recessive disease defined by the presence of two of the three conditions: mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease. Loss-of-function mutations of the autoimmune regulator (AIRE gene have been linked to APS-1. Here we report mutational analysis and functional characterization of an AIRE mutation in a consanguineous Chinese family with APS-1. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. We identified a homozygous missense AIRE mutation c.463G>A (p.Gly155Ser in two siblings with different clinical features of APS-1. In silico splice-site prediction and minigene analysis were carried out to study the potential pathological consequence. Minigene splicing analysis and subsequent cDNA sequencing revealed that the AIRE mutation potentially compromised the recognition of the splice donor of intron 3, causing alternative pre-mRNA splicing by intron 3 retention. Furthermore, the aberrant AIRE transcript was identified in a heterozygous carrier of the c.463G>A mutation. The aberrant intron 3-retaining transcript generated a truncated protein (p.G155fsX203 containing the first 154 AIRE amino acids and followed by 48 aberrant amino acids. Therefore, our study represents the first functional characterization of the alternatively spliced AIRE mutation that may explain the pathogenetic role in APS-1.

The function of the adrenal cortex in patients with paracoccidioidomycosis: a study by radioimmunoassay of plasma ACTH

International Nuclear Information System (INIS)

Tendrich, M.; Vaisman, M.; Pedrosa, P.N.; Guimaraes, M.M.; Cordeiro, J.G.H.

1987-01-01

Fifteen patients with paracoccidioidomycosis were studied: ten with the chronic disseminated form (adult types), 4 with the acute or subacute disseminated form (juvenile type) and 1 with the progressive pulmonary form. Ten patients reported no previous treatment and 5 had relapse of the disease. In all cases P. brasiliensis was demonstrated in specimens obtained from the lesions by direct microscopy (KOH), histopathology and/or culture. The adrenocortical function was evaluated by means of basal plasma determination of ACTH and cortisol, and 24 hour urine determination of 17 hydroxisteroids (17 OHCS); after stimulation by ACTH determinations were repeated. Patients were classified in 3 groups: 1) plasma ACTH 58 pg/ml. According to the correlation between ACTH and cortisol level after simulation test 8 patients were classified in group 1, 2 of them with cortisol response lower than twice the basal levels; four patients were classified in group 3. All them had ACTH levels definitely above the normal, 2 of them had no cortisol response after stimulation in addition to signs and symptoms of Addison's disease, thus fulfilling the criteria of primary adrenal insufficiency. The correlation between ACTH and 17 OHCS after stimulation test demonstrated that in 7 out of 8 patientes from group 1 response was lower than twice the basal and that in 3 out of 4 patientes from group 3 proven primary adrenal insufficiency was present. (The other patient showed a 17 OHCS response three times higher than the basal levels). (author) [pt

Perianal disease, small bowel disease, smoking, prior steroid or early azathioprine/biological therapy are predictors of disease behavior change in patients with Crohn’s disease

Science.gov (United States)

Lakatos, Peter Laszlo; Czegledi, Zsofia; Szamosi, Tamas; Banai, Janos; David, Gyula; Zsigmond, Ferenc; Pandur, Tunde; Erdelyi, Zsuzsanna; Gemela, Orsolya; Papp, Janos; Lakatos, Laszlo

2009-01-01

AIM: To assess the combined effect of disease phenotype, smoking and medical therapy [steroid, azathioprine (AZA), AZA/biological therapy] on the probability of disease behavior change in a Caucasian cohort of patients with Crohn’s disease (CD). METHODS: Three hundred and forty well-characterized, unrelated, consecutive CD patients were analyzed (M/F: 155/185, duration: 9.4 ± 7.5 years) with a complete clinical follow-up. Medical records including disease phenotype according to the Montreal classification, extraintestinal manifestations, use of medications and surgical events were analyzed retrospectively. Patients were interviewed on their smoking habits at the time of diagnosis and during the regular follow-up visits. RESULTS: A change in disease behavior was observed in 30.8% of patients with an initially non-stricturing, non-penetrating disease behavior after a mean disease duration of 9.0 ± 7.2 years. In a logistic regression analysis corrected for disease duration, perianal disease, smoking, steroid use, early AZA or AZA/biological therapy use were independent predictors of disease behavior change. In a subsequent Kaplan-Meier survival analysis and a proportional Cox regression analysis, disease location (P = 0.001), presence of perianal disease (P < 0.001), prior steroid use (P = 0.006), early AZA (P = 0.005) or AZA/biological therapy (P = 0.002), or smoking (P = 0.032) were independent predictors of disease behavior change. CONCLUSION: Our data suggest that perianal disease, small bowel disease, smoking, prior steroid use, early AZA or AZA/biological therapy are all predictors of disease behavior change in CD patients. PMID:19630105

[Inpatients days in patients with respiratory diseases and periodontal disease].

Science.gov (United States)

Fernández-Plata, Rosario; Olmedo-Torres, Daniel; Martínez-Briseño, David; González-Cruz, Herminia; Casa-Medina, Guillermo; García-Sancho, Cecilia

2017-01-01

Periodontal disease is a chronic inflammatory gingival process that has been associated with the severity of respiratory diseases. In Mexico a prevalence of 78% was found in population with social security and > 60 years old. The aim of this study is to establish the association between periodontal disease and respiratory diseases according to the inpatient days. A cross-sectional study was conducted from January to December 2011. We included hospitalized patients, ≥ 18 years of age, without sedation or intubated. A dentist classified patients into two groups according to the severity of the periodontal disease: mild-to-moderate and severe. We estimated medians of inpatient days by disease and severity. Negative binomial models were adjusted to estimate incidence rate ratios and predicted inpatient days. 3,059 patients were enrolled. The median of observed and predicted inpatient days was higher in the group of severe periodontal disease (p disease, tuberculosis, and influenza had the highest incidence rates ratios of periodontal disease (p periodontal disease is positively -associated with inpatient days of patients with respiratory diseases.

Disease phenotype at diagnosis in pediatric Crohn's disease

DEFF Research Database (Denmark)

de Bie, Charlotte I; Paerregaard, Anders; Kolacek, Sanja

2013-01-01

It has been speculated that pediatric Crohn's disease (CD) is a distinct disease entity, with probably different disease subtypes. We therefore aimed to accurately phenotype newly diagnosed pediatric CD by using the pediatric modification of the Montreal classification, the Paris classification....

Skin diseases: prevalence and predictors of itch and disease severity.

OpenAIRE

Verhoeven, E.W.M.

2009-01-01

Chronic skin diseases are known to be common among the general population. Nevertheless, little research attention has been paid to patients with skin diseases in the general population, and consequently, little is known about the impact of skin diseases on daily life within this population. General definitions of health encompass different dimensions of disease outcome divided in disease severity, accompanying physical symptoms, and psychosocial well-being. These dimensions of disease outcom...

[Parkinson's disease(s): recent insight into genetic factors

NARCIS (Netherlands)

Warrenburg, B.P.C. van de; Scheffer, H.; Heutink, P.; Bloem, B.R.

2007-01-01

In recent years, 5 genes have been identified that are unambiguously associated with genetic forms of Parkinson's disease. These genes probably explain less than 10% of all cases of Parkinson's disease. Clinically, these genetic forms can closely resemble idiopathic Parkinson's disease. Mutation

Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma.

Science.gov (United States)

Desai, Rajen U; Saffra, Norman A; Krishna, Rati P; Rosenberg, Steven E

2011-01-01

The authors describe a girl diagnosed as having Coats' disease, Turner syndrome (45X karyotype), and type 1 von Willebrand disease. She tested negative for the Norrie disease pseudoglioma (NDP) gene located on the X-chromosome, which has been suspected of contributing to Coats' disease. Copyright 2010, SLACK Incorporated.

Periodontal Disease and Systemic Diseases: An Update for the Clinician.

Science.gov (United States)

John, Vanchit; Alqallaf, Hawra; De Bedout, Tatiana

2016-01-01

A link between periodontal disease and various systemic diseases has been investigated for several years. Interest in unearthing such a link has grown as the health care profession is looking for a better understanding of disease processes and their relationships to periodontal and other oral diseases. The article aims to provide recent information on the relationship between periodontal disease and systemic diseases such as; cardiovascular, respiratory, endocrine, musculoskeletal, and reproductive system related abnormalities.

Occupational skin diseases

DEFF Research Database (Denmark)

Mahler, V; Aalto-Korte, K; Alfonso, J H

2017-01-01

BACKGROUND: Work-related skin diseases (WSD) are caused or worsened by a professional activity. Occupational skin diseases (OSD) need to fulfil additional legal criteria which differ from country to country. OSD range amongst the five most frequently notified occupational diseases (musculoskeletal...... diseases, neurologic diseases, lung diseases, diseases of the sensory organs, skin diseases) in Europe. OBJECTIVE: To retrieve information and compare the current state of national frameworks and pathways to manage patients with occupational skin disease with regard to prevention, diagnosis, treatment...... in Science and Technology (COST) Action TD 1206 (StanDerm) (www.standerm.eu). RESULTS: Besides a national health service or a statutory health insurance, most European member states implemented a second insurance scheme specifically geared at occupational diseases [insurance against occupational risks...

Lysosomal storage diseases

Science.gov (United States)

Ferreira, Carlos R.; Gahl, William A.

2016-01-01

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy. Sometimes, the lysosomal storage can be caused not by the enzymatic deficiency of one of the hydrolases, but by the deficiency of an activator protein, as occurs in the AB variant of GM2 gangliosidosis. Still other times, the accumulated lysosomal material results from failed egress of a small molecule as a consequence of a deficient transporter, as in cystinosis or Salla disease. In the last couple of decades, enzyme replacement therapy has become available for a number of lysosomal storage diseases. Examples include imiglucerase, taliglucerase and velaglucerase for Gaucher disease, laronidase for Hurler disease, idursulfase for Hunter disease, elosulfase for Morquio disease, galsulfase for Maroteaux-Lamy disease, alglucosidase alfa for Pompe disease, and agalsidase alfa and beta for Fabry disease. In addition, substrate reduction therapy has been approved for certain disorders, such as eliglustat for Gaucher disease. The advent of treatment options for some of these disorders has led to newborn screening pilot studies, and ultimately to the addition of Pompe disease and Hurler disease to the Recommended Uniform Screening Panel (RUSP) in 2015 and 2016, respectively. PMID:29152458

Pick disease

Science.gov (United States)

Semantic dementia; Dementia - semantic; Frontotemporal dementia; FTD; Arnold Pick disease; 3R tauopathy ... doctors tell Pick disease apart from Alzheimer disease. (Memory loss is often the main, and earliest, symptom ...

A disease state fingerprint for evaluation of Alzheimer's disease

DEFF Research Database (Denmark)

Mattila, Jussi; Koikkalainen, Juha; Virkki, Arho

2011-01-01

Diagnostic processes of Alzheimer's disease (AD) are evolving. Knowledge about disease-specific biomarkers is constantly increasing and larger volumes of data are being measured from patients. To gain additional benefits from the collected data, a novel statistical modeling and data visualization...... interpretation of the information. To model the AD state from complex and heterogeneous patient data, a statistical Disease State Index (DSI) method underlying the DSF has been developed. Using baseline data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), the ability of the DSI to model disease...

New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1.

Directory of Open Access Journals (Sweden)

Mireia Mora

Full Text Available Autoimmune polyglandular syndrome type 1 (APS-1, OMIM 240300 is a rare autosomal recessive disorder, characterized by the presence of at least two of three major diseases: hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. We aim to identify the molecular defects and investigate the clinical and mutational characteristics in an index case and other members of a consanguineous family. We identified a novel homozygous mutation in the splice site acceptor (SSA of intron 5 (c.653-1G>A in two siblings with different clinical outcomes of APS-1. Coding DNA sequencing revealed that this AIRE mutation potentially compromised the recognition of the constitutive SSA of intron 5, splicing upstream onto a nearby cryptic SSA in intron 5. Surprisingly, the use of an alternative SSA entails the uncovering of a cryptic donor splice site in exon 5. This new transcript generates a truncated protein (p.A214fs67X containing the first 213 amino acids and followed by 68 aberrant amino acids. The mutation affects the proper splicing, not only at the acceptor but also at the donor splice site, highlighting the complexity of recognizing suitable splicing sites and the importance of sequencing the intron-exon junctions for a more precise molecular diagnosis and correct genetic counseling. As both siblings were carrying the same mutation but exhibited a different APS-1 onset, and one of the brothers was not clinically diagnosed, our finding highlights the possibility to suspect mutations in the AIRE gene in cases of childhood chronic candidiasis and/or hypoparathyroidism otherwise unexplained, especially when the phenotype is associated with other autoimmune diseases.

Celiac disease

Directory of Open Access Journals (Sweden)

Holtmeier Wolfgang

2006-03-01

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.

Heavy Chain Diseases

Science.gov (United States)

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

Celiac Disease

Directory of Open Access Journals (Sweden)

Manoochehr Karjoo

2014-08-01

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.

Prion Diseases

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... with facebook share with twitter share with linkedin Prion Diseases Prion diseases are a related group of ... deer and elk. Why Is the Study of Prion Diseases a Priority for NIAID? Much about TSE ...

Diabetic Eye Disease

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... 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 ...

Infectious Diseases

Science.gov (United States)

... But some of them can make you sick. Infectious diseases are diseases that are caused by germs. There ... many different ways that you can get an infectious disease: Through direct contact with a person who is ...

Heart Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination

Science.gov (United States)

... Adult Diseases Resources Heart Disease, Stroke, or Other Cardiovascular Disease and Adult Vaccination Language: English (US) Español (Spanish) ... important step in staying healthy. If you have cardiovascular disease, talk with your doctor about getting your vaccinations ...

Association of Relationship between Periodontal Disease and Cardiovascular Disease.

Science.gov (United States)

Johar, N; Dhodapkar, S V; Kumar, R; Verma, T; Jajoo, A

2017-04-01

The present study was undertaken to determine the relationship between periodontal and cardiovascular disease. Previous studies have shown some co-relation between the two conditions. We included 186 patients divided into four groups. First two Groups (A1 & A2) were the patients with cardiac disease (100 in numbers) whilst Groups (B1 & B2) (86 in numbers) were treated as controls (without cardiac disease). Following markers of periodontal disease were assessed - plaque index, calculus index, gingival and periodontal index. Markers of cardiovascular disease included were LDL, HDL, total cholesterol and CRP. Ramfjords periodontal index was used to assess the extent of periodontal disease. In the present study there was a significant increase in CRP levels in Group A1 (CVD + PD) compared to controls and overall the two cardiac groups showed a significant increase in CRP compared to controls. There was a non-significant change in lipid profile markers (LDL, HDL and total cholesterol). Periodontal Disease Index (PDI) was also increased in Group A1 compared to other groups except Group B1 and overall in cardiac groups compared to non-cardiac (PD) groups. In this study no correlation between periodontal and cardiovascular disease was found. This may be due intake of statins by few patients in Group A with a confirmed diagnosis of cardiovascular disease.

Prostate Diseases

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... Home › Aging & Health A to Z › Prostate Diseases Font size A A A Print Share Glossary Basic ... body. Approximately 3 million American men have some type of prostate disease. The most common prostate diseases ...

Periodontal Diseases

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... diseases. The primary research focus was on oral bacteria. Periodontal diseases were thought to begin when chalky white ... tools to target their treatment specifically to the bacteria that trigger periodontal disease. At the same time, because biofilms form ...

Chronic Inflammatory Diseases and Atherosclerotic Cardiovascular Disease

DEFF Research Database (Denmark)

Hansen, Peter Riis

2018-01-01

Inflammation plays a significant role in atherosclerosis and cardiovascular disease (CVD). Patients with chronic inflammatory diseases are at increased risk of CVD, but it is debated whether this association is causal or dependent on shared risk factors, other exposures, genes, and/or inflammatory...... pathways. The current review summarizes epidemiological, clinical, and experimental data supporting the role of shared inflammatory mechanisms between atherosclerotic CVD and rheumatoid arthritis, psoriasis, inflammatory bowel disease, and periodontitis, respectively, and provides insights to future...... prospects in this area of research. Awareness of the role of inflammation in CVD in patients with chronic inflammatory diseases and the potential for anti-inflammatory therapy, e.g., with tumor necrosis factor-α inhibitors, to also reduce atherosclerotic CVD has evolved into guideline- based recommendations...

The lysosomal storage disease continuum with ageing-related neurodegenerative disease.

Science.gov (United States)

Lloyd-Evans, Emyr; Haslett, Luke J

2016-12-01

Lysosomal storage diseases and diseases of ageing share many features both at the physiological level and with respect to the mechanisms that underlie disease pathogenesis. Although the exact pathophysiology is not exactly the same, it is astounding how many similar pathways are altered in all of these diseases. The aim of this review is to provide a summary of the shared disease mechanisms, outlining the similarities and differences and how genetics, insight into rare diseases and functional research has changed our perspective on the causes underlying common diseases of ageing. The lysosome should no longer be considered as just the stomach of the cell or as a suicide bag, it has an emerging role in cellular signalling, nutrient sensing and recycling. The lysosome is of fundamental importance in the pathophysiology of diseases of ageing and by comparing against the LSDs we not only identify common pathways but also therapeutic targets so that ultimately more effective treatments can be developed for all neurodegenerative diseases. Copyright © 2016. Published by Elsevier B.V.

Periodontal disease and non-communicable diseases. Strength of bidirectional associations

OpenAIRE

Kassier, SM

2016-01-01

Periodontal disease (PD), along with cardiovascular and circulatory disease, diabetes mellitus, chronic respiratory disease and obesity, are globally regarded as some of the major non-communicable diseases (NCDs). The association between PD and these systemic illnesses is described as bidirectional. Gaining an understanding of the strength of the proposed associations between these diseases is important, as it will enable health professionals to identify common risk factors that will allow fo...

Dent disease

Directory of Open Access Journals (Sweden)

Rina R Rus

2017-04-01

Full Text Available Dent disease is an x-linked disorder of proximal renal tubular dysfunction that occurs almost exclusively in males. It is characterized by significant, mostly low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease. Signs and symptoms of this condition appear in early childhood and worsen over time. There are two forms of Dent disease, which are distinguished by their genetic cause and pattern of signs and symptoms (type 1 and type 2. Dent disease 2 is characterized by the features described above and also associated with extrarenal abnormalities (they include mild intellectual disability, hypotonia, and cataract. Some researchers consider Dent disease 2 to be a mild variant of a similar disorder called Lowe syndrome.We represent a case of a 3-year old boy with significant proteinuria in the nephrotic range and hypercalciuria. We confirmed Dent disease type 1 by genetic analysis.

Prevalence of periodontal disease, its association with systemic diseases and prevention.

Science.gov (United States)

Nazir, Muhammad Ashraf

2017-01-01

Periodontal diseases are prevalent both in developed and developing countries and affect about 20-50% of global population. High prevalence of periodontal disease in adolescents, adults, and older individuals makes it a public health concern. Several risk factors such as smoking, poor oral hygiene, diabetes, medication, age, hereditary, and stress are related to periodontal diseases. Robust evidence shows the association of periodontal diseases with systemic diseases such as cardiovascular disease, diabetes, and adverse pregnancy outcomes. Periodontal disease is likely to cause 19% increase in the risk of cardiovascular disease, and this increase in relative risk reaches to 44% among individuals aged 65 years and over. Type 2 diabetic individuals with severe form of periodontal disease have 3.2 times greater mortality risk compared with individuals with no or mild periodontitis. Periodontal therapy has been shown to improve glycemic control in type 2 diabetic subjects. Periodontitis is related to maternal infection, preterm birth, low birth weight, and preeclampsia. Oral disease prevention strategies should be incorporated in chronic systemic disease preventive initiatives to curtail the burden of disease in populations. The reduction in the incidence and prevalence of periodontal disease can reduce its associated systemic diseases and can also minimize their financial impact on the health-care systems. It is hoped that medical, dental practitioners, and other health-care professionals will get familiar with perio-systemic link and risk factors, and need to refer to the specialized dental or periodontal care.

DISEASES

DEFF Research Database (Denmark)

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

2015-01-01

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...

TEMPORAL ORDER OF DISEASE PAIRS AFFECTS SUBSEQUENT DISEASE TRAJECTORIES

DEFF Research Database (Denmark)

Beck, Mette K; Westergaard, David; Jensen, Anders Boeck

2016-01-01

order of appearance. We discuss these different types of disease co-occurrences, and use the two diseases "sleep apnea" and "diabetes" to showcase the approach which otherwise can be applied to any disease pair. We benefit from seven million electronic medical records covering the entire population...... of Denmark for more than 20 years. Sleep apnea is the most common sleep-related breathing disorder and it has previously been shown to be bidirectionally linked to diabetes, meaning that each disease increases the risk of acquiring the other. We confirm that there is no significant temporal relationship......, as approximately half of patients with both diseases are diagnosed with diabetes first. However, we also show that patients diagnosed with diabetes before sleep apnea have a higher disease burden compared to patients diagnosed with sleep apnea before diabetes. The study clearly demonstrates that it is not only...

Coronary heart disease

Science.gov (United States)

Heart disease, Coronary heart disease, Coronary artery disease; Arteriosclerotic heart disease; CHD; CAD ... buildup of plaque in the arteries to your heart. This may also be called hardening of the ...

Autoinflammatory Diseases

International Nuclear Information System (INIS)

Penaranda P, Edgar; Spinel B, Nestor; Restrepo, Jose F; Rondon H, Federico; Millan S, Alberto; Iglesias G Antonio

2010-01-01

We present a review article on the autoinflammatory diseases, narrating its historical origin and describing the protein and molecular structure of the Inflammasome, the current classification of the autoinflammatory diseases and a description of the immuno genetics and clinical characteristics more important of every disease.

Niemann-Pick disease

Science.gov (United States)

NPD; Sphingomyelinase deficiency; Lipid storage disorder - Niemann-Pick disease; Lysosomal storage disease - Niemann-Pick ... lipofuscinoses or Batten disease (Wolman disease, cholesteryl ... metabolism of lipids. In: Kliegman RM, Stanton BF, St. Geme JW, ...

Chronic pulmonary disease - a multifacted disease complex in the horse

International Nuclear Information System (INIS)

Clarke, A.F.

1987-01-01

This paper reviews chronic pulmonary disease (CPD) as an insidiously developing disease capable of being manifest in many degrees. Horses may suffer mild, sub-clinical degrees of lower respiratory tract inflammation or small airway disease withouth showing symptoms at rest. This form of disease becomes manifest as poor performance when these horses take part in athletic competition. Factors relating to the aetiology, diagnosis, treatment and prevention of all degrees of small airway disease of horses are discussed. 30 refs

Gaucher disease

Science.gov (United States)

... please enable JavaScript. Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA). Causes Gaucher disease is rare in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease. It ...

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011.

Directory of Open Access Journals (Sweden)

Alies van Lier

Full Text Available Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first national disease burden estimates for a comprehensive set of 32 infectious diseases in the Netherlands.The average annual disease burden was computed for the period 2007-2011 for selected infectious diseases in the Netherlands using the disability-adjusted life years (DALY measure. The pathogen- and incidence-based approach was adopted to quantify the burden due to both morbidity and premature mortality associated with all short and long-term consequences of infection. Natural history models, disease progression probabilities, disability weights, and other parameters were adapted from previous research. Annual incidence was obtained from statutory notification and other surveillance systems, which was corrected for under-ascertainment and under-reporting. The highest average annual disease burden was estimated for invasive pneumococcal disease (9444 DALYs/year; 95% uncertainty interval [UI]: 8911-9961 and influenza (8670 DALYs/year; 95% UI: 8468-8874, which represents 16% and 15% of the total burden of all 32 diseases, respectively. The remaining 30 diseases ranked by number of DALYs/year from high to low were: HIV infection, legionellosis, toxoplasmosis, chlamydia, campylobacteriosis, pertussis, tuberculosis, hepatitis C infection, Q fever, norovirus infection, salmonellosis, gonorrhoea, invasive meningococcal disease, hepatitis B infection, invasive Haemophilus influenzae infection, shigellosis, listeriosis, giardiasis, hepatitis A infection, infection with STEC O157, measles, cryptosporidiosis, syphilis, rabies, variant Creutzfeldt-Jakob disease, tetanus, mumps, rubella, diphtheria, and poliomyelitis. The very low burden for the latter five diseases can be

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011

Science.gov (United States)

Bouwknegt, Martijn; Kretzschmar, Mirjam E.; Mangen, Marie-Josée J.; Wallinga, Jacco; de Melker, Hester E.

2016-01-01

Background Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first national disease burden estimates for a comprehensive set of 32 infectious diseases in the Netherlands. Methods and Findings The average annual disease burden was computed for the period 2007–2011 for selected infectious diseases in the Netherlands using the disability-adjusted life years (DALY) measure. The pathogen- and incidence-based approach was adopted to quantify the burden due to both morbidity and premature mortality associated with all short and long-term consequences of infection. Natural history models, disease progression probabilities, disability weights, and other parameters were adapted from previous research. Annual incidence was obtained from statutory notification and other surveillance systems, which was corrected for under-ascertainment and under-reporting. The highest average annual disease burden was estimated for invasive pneumococcal disease (9444 DALYs/year; 95% uncertainty interval [UI]: 8911–9961) and influenza (8670 DALYs/year; 95% UI: 8468–8874), which represents 16% and 15% of the total burden of all 32 diseases, respectively. The remaining 30 diseases ranked by number of DALYs/year from high to low were: HIV infection, legionellosis, toxoplasmosis, chlamydia, campylobacteriosis, pertussis, tuberculosis, hepatitis C infection, Q fever, norovirus infection, salmonellosis, gonorrhoea, invasive meningococcal disease, hepatitis B infection, invasive Haemophilus influenzae infection, shigellosis, listeriosis, giardiasis, hepatitis A infection, infection with STEC O157, measles, cryptosporidiosis, syphilis, rabies, variant Creutzfeldt-Jakob disease, tetanus, mumps, rubella, diphtheria, and poliomyelitis. The very low burden for the latter five

Disease Burden of 32 Infectious Diseases in the Netherlands, 2007-2011.

Science.gov (United States)

van Lier, Alies; McDonald, Scott A; Bouwknegt, Martijn; Kretzschmar, Mirjam E; Havelaar, Arie H; Mangen, Marie-Josée J; Wallinga, Jacco; de Melker, Hester E

2016-01-01

Infectious disease burden estimates provided by a composite health measure give a balanced view of the true impact of a disease on a population, allowing the relative impact of diseases that differ in severity and mortality to be monitored over time. This article presents the first national disease burden estimates for a comprehensive set of 32 infectious diseases in the Netherlands. The average annual disease burden was computed for the period 2007-2011 for selected infectious diseases in the Netherlands using the disability-adjusted life years (DALY) measure. The pathogen- and incidence-based approach was adopted to quantify the burden due to both morbidity and premature mortality associated with all short and long-term consequences of infection. Natural history models, disease progression probabilities, disability weights, and other parameters were adapted from previous research. Annual incidence was obtained from statutory notification and other surveillance systems, which was corrected for under-ascertainment and under-reporting. The highest average annual disease burden was estimated for invasive pneumococcal disease (9444 DALYs/year; 95% uncertainty interval [UI]: 8911-9961) and influenza (8670 DALYs/year; 95% UI: 8468-8874), which represents 16% and 15% of the total burden of all 32 diseases, respectively. The remaining 30 diseases ranked by number of DALYs/year from high to low were: HIV infection, legionellosis, toxoplasmosis, chlamydia, campylobacteriosis, pertussis, tuberculosis, hepatitis C infection, Q fever, norovirus infection, salmonellosis, gonorrhoea, invasive meningococcal disease, hepatitis B infection, invasive Haemophilus influenzae infection, shigellosis, listeriosis, giardiasis, hepatitis A infection, infection with STEC O157, measles, cryptosporidiosis, syphilis, rabies, variant Creutzfeldt-Jakob disease, tetanus, mumps, rubella, diphtheria, and poliomyelitis. The very low burden for the latter five diseases can be attributed to the

Parkinson's Disease Dementia

Science.gov (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 ...

[Emerging noninfectious diseases].

Science.gov (United States)

Consiglio, Ezequiel

2008-11-01

In recent years, emerging diseases were defined as being infectious, acquiring high incidence, often suddenly, or being a threat or an unexpected phenomenon. This study discusses the hallmarks of emerging diseases, describing the existence of noninfectious emerging diseases, and elaborating on the advantages of defining noninfectious diseases as emerging ones. From the discussion of various mental health disorders, nutritional deficiencies, external injuries and violence outcomes, work injuries and occupational health, and diseases due to environmental factors, the conclusion is drawn that a wide variety of noninfectious diseases can be defined as emergent. Noninfectious emerging diseases need to be identified in order to improve their control and management. A new definition of "emergent disease" is proposed, one that emphasizes the pathways of emergence and conceptual traits, rather than descriptive features.

Coronary heart disease after radiotherapy for peptic ulcer disease

International Nuclear Information System (INIS)

Carr, Zhanat A.; Land, Charles E.; Kleinerman, Ruth A.; Weinstock, Robert W.; Stovall, Marilyn; Griem, Melvin L.; Mabuchi, Kiyohiko

2005-01-01

Purpose: To evaluate the risk of coronary heart disease (CHD) and cerebrovascular disease after radiotherapy (RT) for peptic ulcer disease. Methods and materials: Peptic ulcer disease patients treated with RT (n = 1859) or by other means (n = 1860) at the University of Chicago Medical Center between 1936 and 1965, were followed through 1997. The observed numbers of cause-specific deaths were compared with the expected numbers from the general population rates. During RT, 5% of the heart was in the treatment field and the remainder of the heart mostly received scattered radiation. A volume-weighted cardiac dose was computed to describe the average tissue dose to the entire organ. We used Cox proportional hazards regression analysis to analyze the CHD and cerebrovascular disease risk associated with RT, adjusting for confounding factors. Results: Greater than expected CHD mortality was observed among the irradiated patients. The irradiated patients received volume-weighted cardiac doses ranging from 1.6 to 3.9 Gy and the portion of the heart directly in the field received doses of 7.6-18.4 Gy. The CHD risk increased with the cardiac dose (p trend = 0.01). The cerebrovascular disease risk was not associated with the surrogate carotid dose. Conclusion: The excess CHD risk in patients undergoing RT for peptic ulcer disease decades previously indicates the need for long-term follow-up for cardiovascular disease after chest RT

Rheumatic heart disease: infectious disease origin, chronic care approach.

Science.gov (United States)

Katzenellenbogen, Judith M; Ralph, Anna P; Wyber, Rosemary; Carapetis, Jonathan R

2017-11-29

Rheumatic heart disease (RHD) is a chronic cardiac condition with an infectious aetiology, causing high disease burden in low-income settings. Affected individuals are young and associated morbidity is high. However, RHD is relatively neglected due to the populations involved and its lower incidence relative to other heart diseases. In this narrative review, we describe how RHD care can be informed by and integrated with models of care developed for priority non-communicable diseases (coronary heart disease), and high-burden communicable diseases (tuberculosis). Examining the four-level prevention model (primordial through tertiary prevention) suggests primordial and primary prevention of RHD can leverage off existing tuberculosis control efforts, given shared risk factors. Successes in coronary heart disease control provide inspiration for similarly bold initiatives for RHD. Further, we illustrate how the Chronic Care Model (CCM), developed for use in non-communicable diseases, offers a relevant framework to approach RHD care. Systems strengthening through greater integration of services can improve RHD programs. Strengthening of systems through integration/linkages with other well-performing and resourced services in conjunction with policies to adopt the CCM framework for the secondary and tertiary prevention of RHD in settings with limited resources, has the potential to significantly reduce the burden of RHD globally. More research is required to provide evidence-based recommendations for policy and service design.

Associated Autoimmune Diseases

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... gland in the neck, thick and coarse hair. Addison’s Disease Arare disease involving the adrenal gland. The prevalence of celiac disease in people with addison’s disease is significant. Symptoms of Addison’s may include weight ...

Mad Cow Disease

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... Safe Videos for Educators Search English Español Mad Cow Disease KidsHealth / For Teens / Mad Cow Disease What's ... are people to get it? What Is Mad Cow Disease? Mad cow disease is an incurable, fatal ...

Skin Diseases: Skin Health and Skin Diseases

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Skip Navigation Bar Home Current Issue Past Issues Skin Diseases Skin Health and Skin Diseases Past Issues / Fall 2008 Table of Contents ... acne to wrinkles Did you know that your skin is the largest organ of your body? It ...

Lyme Disease.

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Taylor, George C.

1991-01-01

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…

Wilson’s Disease: An Inherited, Silent, Copper Intoxication Disease

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Uta Merle

2016-07-01

Full Text Available Wilson’s disease is a rare, autosomal recessive, genetic, copper overload disease, which evokes multiple motor or neuropsychiatric symptoms and liver disease. It is the consequence of a variety of different mutations affecting the ATP7B gene. This gene encodes for a class IB, P-type, copper-transporting ATPase, which is located in the trans-Golgi network of the liver and brain, and mediates the excretion of excess copper into the bile. When functionally inactive, the excess copper is deposited in the liver, brain, and other tissues. Free copper induces oxidative stress, lipid peroxidation, and lowers the apoptotic threshold of the cell. The symptoms in affected persons can vary widely and usually appear between the ages of 6 years and 20 years, but there are also cases in which the disease manifests in advanced age. In this review, we discuss the considerations in diagnosis, clinical management, and treatment of Wilson’s disease. In addition, we highlight experimental efforts that address the pathogenesis of Wilson’s disease in ATP7B deficient mice, novel analytical techniques that will improve the diagnosis at an early stage of disease onset, and treatment results with copper-chelating agents.

Celiac Disease: Diagnosis.

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Byrne, Greg; Feighery, Conleth F

2015-01-01

Historically the diagnosis of celiac disease has relied upon clinical, serological, and histological evidence. In recent years the use of sensitive serological methods has meant an increase in the diagnosis of celiac disease. The heterogeneous nature of the disorder presents a challenge in the study and diagnosis of the disease with patients varying from subclinical or latent disease to patients with overt symptoms. Furthermore the related gluten-sensitive disease dermatitis herpetiformis, while distinct in some respects, shares clinical and serological features with celiac disease. Here we summarize current best practice for the diagnosis of celiac disease and briefly discuss newer approaches. The advent of next-generation assays for diagnosis and newer clinical protocols may result in more sensitive screening and ultimately the possible replacement of the intestinal biopsy as the gold standard for celiac disease diagnosis.

Wireless Monitoring for Patients with Cardiovascular Diseases and Parkinson's Disease.

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Kefaliakos, Antonios; Pliakos, Ioannis; Charalampidou, Martha; Diomidous, Marianna

2016-01-01

The use of applications for mobile devices and wireless sensors is common for the sector of telemedicine. Recently various studies and systems were developed in order to help patients suffering from severe diseases such as cardiovascular diseases and Parkinson's disease. They present a challenge for the sector because such systems demand the flow of accurate data in real time and the use of specialized sensors. In this review will be presented some very interesting applications developed for patients with cardiovascular diseases and Parkinson's disease.

Wilson’s Disease

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Figen Hanağası

2013-12-01

Full Text Available Wilson’s disease is a autosomal recessive disorder of copper metabolism. Clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. Wilson’s disease is caused by mutations in the ATP7B gene. ATP7B encodes a hepatic copper-transporting protein, which is important for copper excretion into bile. Neurological symptoms in Wilson’s disease include variable combinations of dysathria, ataxia, parkinsonism, dystonia and tremor. Wilson’s disease is lethal if untreated. This review discusses the epidemiology, genetics, clinical features, etiopathophysiology, diagnostic tests, and treatment of Wilson’s disease

Influence of cerebrovascular disease on brain networks in prodromal and clinical Alzheimer's disease.

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Chong, Joanna Su Xian; Liu, Siwei; Loke, Yng Miin; Hilal, Saima; Ikram, Mohammad Kamran; Xu, Xin; Tan, Boon Yeow; Venketasubramanian, Narayanaswamy; Chen, Christopher Li-Hsian; Zhou, Juan

2017-11-01

Network-sensitive neuroimaging methods have been used to characterize large-scale brain network degeneration in Alzheimer's disease and its prodrome. However, few studies have investigated the combined effect of Alzheimer's disease and cerebrovascular disease on brain network degeneration. Our study sought to examine the intrinsic functional connectivity and structural covariance network changes in 235 prodromal and clinical Alzheimer's disease patients with and without cerebrovascular disease. We focused particularly on two higher-order cognitive networks-the default mode network and the executive control network. We found divergent functional connectivity and structural covariance patterns in Alzheimer's disease patients with and without cerebrovascular disease. Alzheimer's disease patients without cerebrovascular disease, but not Alzheimer's disease patients with cerebrovascular disease, showed reductions in posterior default mode network functional connectivity. By comparison, while both groups exhibited parietal reductions in executive control network functional connectivity, only Alzheimer's disease patients with cerebrovascular disease showed increases in frontal executive control network connectivity. Importantly, these distinct executive control network changes were recapitulated in prodromal Alzheimer's disease patients with and without cerebrovascular disease. Across Alzheimer's disease patients with and without cerebrovascular disease, higher default mode network functional connectivity z-scores correlated with greater hippocampal volumes while higher executive control network functional connectivity z-scores correlated with greater white matter changes. In parallel, only Alzheimer's disease patients without cerebrovascular disease showed increased default mode network structural covariance, while only Alzheimer's disease patients with cerebrovascular disease showed increased executive control network structural covariance compared to controls. Our

Genotator: A disease-agnostic tool for genetic annotation of disease

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Jung Jae-Yoon

2010-10-01

Full Text Available Abstract Background Disease-specific genetic information has been increasing at rapid rates as a consequence of recent improvements and massive cost reductions in sequencing technologies. Numerous systems designed to capture and organize this mounting sea of genetic data have emerged, but these resources differ dramatically in their disease coverage and genetic depth. With few exceptions, researchers must manually search a variety of sites to assemble a complete set of genetic evidence for a particular disease of interest, a process that is both time-consuming and error-prone. Methods We designed a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. Our tool, called Genotator, automatically integrates data from 11 externally accessible clinical genetics resources and uses these data in a straightforward formula to rank genes in order of disease relevance. We tested the accuracy of coverage of Genotator in three separate diseases for which there exist specialty curated databases, Autism Spectrum Disorder, Parkinson's Disease, and Alzheimer Disease. Genotator is freely available at http://genotator.hms.harvard.edu. Results Genotator demonstrated that most of the 11 selected databases contain unique information about the genetic composition of disease, with 2514 genes found in only one of the 11 databases. These findings confirm that the integration of these databases provides a more complete picture than would be possible from any one database alone. Genotator successfully identified at least 75% of the top ranked genes for all three of our use cases, including a 90% concordance with the top 40 ranked candidates for Alzheimer Disease. Conclusions As a meta-query engine, Genotator provides high coverage of both historical genetic research as well as recent advances in the genetic understanding of specific diseases. As such, Genotator provides a real-time aggregation of ranked

Genotator: a disease-agnostic tool for genetic annotation of disease.

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Wall, Dennis P; Pivovarov, Rimma; Tong, Mark; Jung, Jae-Yoon; Fusaro, Vincent A; DeLuca, Todd F; Tonellato, Peter J

2010-10-29

Disease-specific genetic information has been increasing at rapid rates as a consequence of recent improvements and massive cost reductions in sequencing technologies. Numerous systems designed to capture and organize this mounting sea of genetic data have emerged, but these resources differ dramatically in their disease coverage and genetic depth. With few exceptions, researchers must manually search a variety of sites to assemble a complete set of genetic evidence for a particular disease of interest, a process that is both time-consuming and error-prone. We designed a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. Our tool, called Genotator, automatically integrates data from 11 externally accessible clinical genetics resources and uses these data in a straightforward formula to rank genes in order of disease relevance. We tested the accuracy of coverage of Genotator in three separate diseases for which there exist specialty curated databases, Autism Spectrum Disorder, Parkinson's Disease, and Alzheimer Disease. Genotator is freely available at http://genotator.hms.harvard.edu. Genotator demonstrated that most of the 11 selected databases contain unique information about the genetic composition of disease, with 2514 genes found in only one of the 11 databases. These findings confirm that the integration of these databases provides a more complete picture than would be possible from any one database alone. Genotator successfully identified at least 75% of the top ranked genes for all three of our use cases, including a 90% concordance with the top 40 ranked candidates for Alzheimer Disease. As a meta-query engine, Genotator provides high coverage of both historical genetic research as well as recent advances in the genetic understanding of specific diseases. As such, Genotator provides a real-time aggregation of ranked data that remains current with the pace of research in the disease