- Development and Validation of the Coeliac Disease Food Attitudes and Behaviours Scale. [Journal Article]
- GRGastroenterol Res Pract 2018; 2018:6930269
- CONCLUSIONS: The CD-FAB is a reliable and valid measure of food attitudes and behaviours in coeliac disease. As a new disease-specific instrument, it may be a useful tool for evaluating food concerns in individuals with coeliac disease in a clinical setting and for further exploring the development of disordered eating patterns in coeliac disease. Further research is required to assess the full potential of the CD-FAB.
- Response bias to a randomised controlled trial of a lifestyle intervention in people at high risk of cardiovascular disease: a cross-sectional analysis. [Journal Article]
- BPBMC Public Health 2018 Sep 04; 18(1):1092
- CONCLUSIONS: Evaluations of interventions intended for those at high risk of CVD may fail to reach those at highest risk. Hard to reach patient groups may require different recruitment strategies to maximise participation in future trials. Improvements in primary care ethnicity data recording is required to aid understanding of how successfully study samples represent the target population.
- [Longitudinal melanonychia as a clinical manisfestation of Addison's disease]. [Journal Article]
- APAten Primaria 2018 Aug 28
- A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature. [Journal Article]
- FIFront Immunol 2018; 9:1835
- Autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. Criteria for the ...
Autoimmune-poly-endocrinopathy-candidiasis-ectodermal-dystrophy syndrome (APECED) is a rare monogenic recessive disorder caused by mutations in the autoimmune regulator (AIRE) gene. Criteria for the diagnosis of APECED are the presence of two of the following disorders: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (CHP), and Addison's disease. APECED develops at high incidence in Finns, Sardinians, and Iranian Jews and presents with a wide range of clinical phenotypes and genotypes. In this manuscript, we report the clinical, endocrinological, and molecular features of a 16-year-old female patient from Pakistan living in Italy and presenting the major APECED clinical manifestations CMC, CHP, and primary adrenal insufficiency. Premature ovarian failure, chronic bronchopneumopathy, vitiligo, Hashimoto's thyroiditis emerged as associated diseases. In our patient, AIRE gene screening revealed the novel c.396G>C (p.Arg132Ser; p.R132S) mutation in homozygosity thus confirming APECED diagnosis. This is the first reported mutation within the nuclear localization signal (NLS) that is associated with APECED. The NLS mutation affects the nuclear import of classical transcription factors through nuclear pore by recognition of nuclear import receptors, the importin α molecules. By displaying crystal structures of the peptide containing the KRK basic residue cluster bound to α importins, we show that p.R132S replacement in 131-KRK-133 does not reproduce these interactions. Thus, we propose that the novel mutation exerts its pathogenetic effect by impairing the nuclear import of the Aire protein. The present case report is added to a limited series of Pakistani APECED patients who we reviewed from the scientific literature, mostly diagnosed on clinical findings.
- The potential role for infections in the pathogenesis of autoimmune Addison's disease. [Review]
- CEClin Exp Immunol 2018 Aug 24
- Autoimmune Addison's disease (AAD), or primary adrenocortical insufficiency, is a classical organ-specific autoimmune disease with160 years of history. AAD is remarkably homogenous with one major dom...
Autoimmune Addison's disease (AAD), or primary adrenocortical insufficiency, is a classical organ-specific autoimmune disease with160 years of history. AAD is remarkably homogenous with one major dominant self-antigen, the cytochrome P450 21-hydroxylase enzyme, which is targeted by both autoantibodies and autoreactive T cells. Like most autoimmune diseases, AAD is thought to be caused by an unfortunate combination of genetic and environmental factors. While the number of genetic associations with AAD is increasing, almost nothing is known about environmental factors. A major environmental factor commonly proposed for autoimmune diseases, based partly on experimental and clinical data and partly on shared pathways between anti-viral immunity and autoimmunity, is viral infections. However, there are few reports associating viral infections to AAD, and it has proven difficult to establish which immunological processes that could link any viral infection with the initiation or progression of AAD. In this review, we will summarize the current knowledge on the underlying mechanisms of AAD and take a closer look on the potential involvement of viruses. This article is protected by copyright. All rights reserved.
- Gluten and Neuroimmunology. Rare association with Myasthenia Gravis and Literature Review. [Case Reports]
- RARev Assoc Med Bras (1992) 2018; 64(4):311-314
- As the celiac disease (CD), the non-celiac gluten sensitivity (NCGS) has also been associated with several autoimmune manifestations. It is rarely associated with myasthenia gravis (MG). This paper s...
As the celiac disease (CD), the non-celiac gluten sensitivity (NCGS) has also been associated with several autoimmune manifestations. It is rarely associated with myasthenia gravis (MG). This paper shall introduce the case of a young female patient, initially presenting a peripheral neuropathy framework. During clinical and neurological follow-up, she began to present symptoms of various immune-mediated morbidities. Diseases related to gluten represent a clinical spectrum of manifestations with a trigger in common, the ingestion of gluten. CD is the most well-known and serious disease of the spectrum, also called gluten-sensitive enteropathy. The NCGS is diagnosed from clinical evidence of improvement in symptoms followed by a Gluten Free Diet (GFD) in patients without signs of enteropathy in duodenal biopsy. There are indications that, although rare, with a prevalence of 1 in 5000, myasthenia gravis (MG) may occur more often when CD is also present. Between 13 to 22% of the patients with MG have a second autoimmune disorder. However, it is often associated with dermatomyositis or polymyositis, lupus erythematosussystemic lupus erythematosus, Addison's disease, Guillain-Barré syndrome and juvenile rheumatoid arthritis. Thus, the symptoms of neuromuscular junction involvement may give a diagnostic evidence of this rare association.
- Does quality of life differ in patients with Addison's disease on different glucocorticoid therapies? [Letter]
- EEndocrine 2018 Aug 21
- Reduced Slow-Wave Sleep and Altered Diurnal Cortisol Rhythms in Patients with Addison's Disease. [Journal Article]
- EJEur J Endocrinol 2018 Aug 14
- CONCLUSIONS: Overall, these results suggest that patients with AD demonstrate different patterns of night-time cortisol concentrations to healthy controls, and that relatively elevated concentrations are associated with a reduction of SWS. These hormonal and sleep architectural aberrations may disrupt the routine sleep-dependent processes of memory consolidation, and hence may explain, at least partially, the memory impairments often experienced by patients with AD.
- Evaluation and Treatment of Adrenal Dysfunction in the Primary Care Environment. [Review]
- NCNurs Clin North Am 2018; 53(3):385-394
- Adrenal insufficiency (Addison's disease) and Cushing's syndrome are rare disorders characterized by abnormal secretion of adrenal hormones. All patients with adrenal insufficiency and many with Cush...
Adrenal insufficiency (Addison's disease) and Cushing's syndrome are rare disorders characterized by abnormal secretion of adrenal hormones. All patients with adrenal insufficiency and many with Cushing's syndrome require life-long therapy with the potential to impact the quality of life. Management requires gain of a significant amount of knowledge related to treatment, self-care, and how to react quickly in critical situations. Knowledge deficits related to management may cause patients to become critically ill and may even cause death. Ongoing patient/family teaching is crucial for proper disease management and sustaining the quality of life.
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- Empathy Training Through Symptom Burden Simulation. [Journal Article]
- AJAm J Hosp Palliat Care 2018 Aug 13; :1049909118793113
- CONCLUSIONS: Ninety-eight percent of the new employees found their experience in the workshop to dramatically positively affect their empathy levels and consequently formulate compassionate responses to patient situations based on their experiences of feeling empathy during the training.