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Objective: To investigate orofacial traits and general factors related to oral health‐related quality of life in acromegaly patients. Materials and Methods: A cross‐sectional study with 34 acromegaly patients was conducted. The OHIP‐14 questionnaire was used to assess oral health‐related quality of life scores. To assess orofacial and occlusion morphology, an oral evaluation was performed. Correlation measures, multiple linear regression and a structural equation model (SEM) were used in the statistical analysis. Results: The presence of arthrosis (SC = 0.467, SE = 0.155, p = 0.003) and smoking history (SC = 0.459, SE = 0.206, p = 0.026) were associated with a negative impact on oral health‐related quality of life. Mandibular protrusion was related to physical pain (β = 2.74, p = 0.029). Anterior open bite (β = 4.44, p = 0.004) and anterior crossbite (β = 2.61, p = 0.026) were related to psychological disability. Diastema was related to social disability (β = 3.42, p = 0.037) and handicap (β = 2.74, p = 0.044). Conclusion: The findings suggest that smoking, arthrosis and orofacial alterations (mandibular protrusion, open bite, crossbite and diastema) have a negative impact on oral health‐related quality of life in acromegaly patients. [ABSTRACT FROM AUTHOR]

Objective: Rare disease Background: Juvenile hemochromatosis is a rare genetic disease that leads to intense iron accumulation. The disease onset usually occurs before the third decade of life and causes severe dysfunction in various organs. The most classical clinical findings are hypogonadotropic hypogonadism, cardiomyopathy, liver fibrosis, glycemic changes, arthropathy and skin pigmentation. However, secondary hypothyroidism is not reported in these patients. Juvenile hemochromatosis has an autosomal recessive inheritance and might be type 2A or type 2B, due to mutation in either the hemojuvelin gene (HJV) or hepcidin antimicrobial peptide (HAMP) gene. Case Report: A 26-year-old female patient was admitted with a recent history of diabetic ketoacidosis. Three months after that admission, she presented with arthralgia, diffuse abdominal pain, adynamia, hair loss, darkening of the skin and amenorrhea. Severe iron overload was found and findings in the hepatic biopsy were compatible with hemochromatosis. An upper abdominal magnetic resonance imaging (MRI) showed iron deposition in the liver and pancreas and pituitary MRI exhibited accumulation on the anterior pituitary. After 16 months the patient presented with dyspnea and lower limb edema, and cardiac MRI indicated iron deposition in the myocardium. The patient was diagnosed with juvenile hemochromatosis presenting with hypogonadotropic hypogonadism, cardiomyopathy, insulin-dependent diabetes mellitus, and secondary hypothyroidism. A novel homozygous mutation, c.697delC, in the HJV gene was detected. Conclusions: We describe for the first time a severe and atypical case of juvenile hemochromatosis type 2A presenting classical clinical features, as well as secondary hypothyroidism resulting from a novel mutation in the HJV gene. [ABSTRACT FROM AUTHOR]

Several studies have associated acromegaly with an increased risk of benign and malignant tumors. While simple and multinodular goiters are common findings in acromegaly, the prevalence of thyroid cancer is uncertain. The objective of this study was to estimate the prevalence of thyroid cancer in a series of acromegalic patients from three hospitals in northeast of Brazil. The methodology used included morphological, cytological and histological thyroid analysis of acromegalic patients and volunteers over 18 years, matched for age and sex and with nodule (s) ≥1 cm. The subjects of this study were 124 acromegalic patients, including 76 females (61.3%) and 48 men (38.7%), with a mean age 45.1 years. Results of the study showed that thyroid ultrasonography was normal in 31 cases (25%), 25 had diffuse goiter (20.1%), 67 had nodules (54%) and one agenesis of the right lobe (0.8%). Thirty-six patients underwent fine needle aspiration biopsy (FNAB) of their nodules and 9 cases of papillary cancer were found (7.2%). The control group consisted of 263 subjects, 156 females (59.3%) and 107 males (40.7%), mean age 44.7 years. In ultrasound assessment, 96 had nodules (36.5%). Of these, 13 were punctured and 2 cases of papillary carcinoma were found (0.7%). These results gave an odds ratio of 10.21 ( p = 0.0011, 95% CI 2.17 to 48.01). These findings demonstrate an increased prevalence of thyroid cancer, statistically significant when compared to our control group. Thus, it is suggested that acromegalic patients should be routinely submitted to thyroid ultrasound evaluation, followed by FNAB of nodules when indicated. [ABSTRACT FROM AUTHOR]

Background A specific acromegaly-related cardiomyopathy has been described in the literature, largely in Caucasians, which is independent of other risk factors, mainly hypertension. Objective This study assessed the cardiac changes in acromegalics of significant ethnic diversity and also the relevance of the aetiopathogenic factors involved, such as disease activity and hypertension. Design It is a cross-sectional study with a comparative control group. Patients and methods In this study, 37 acromegalic patients (20 Intermediate-skinned (IS), 14 Dark-skinned (DS) and three Light-skinned (LS) individuals) and 74 controls matched by age, gender and hypertension were evaluated. Cardiac morphology and function were addressed using echocardiography parameters. Results The mean age of patients was 46·9 ± 12·8 years, with 67·6% being women and 43·2% hypertensive. The prevalence of left ventricular hypertrophy (LVH) between acromegalics was 56·8% vs 10·8% in the controls ( P < 0·001). About 86% of patients with LVH had active disease ( P = 0·023). Logistic regression revealed that disease activity presented a stronger association (OR = 5·925; CI = 1·085-32·351; P = 0·040) with LVH than hypertension (OR = 3·237; CI = 0·702-14·924; P = 0·132). When DS acromegalics were compared with IS ones, no statistically significant differences were observed. Conclusion Chronically hyperactive somatotropic axis remains as an independent and determining factor in the development of left ventricular hypertrophy, as it is more associated with this condition than hypertension in a largely admixed population with a high degree of African ancestry. [ABSTRACT FROM AUTHOR]

Objective: To investigate the impact of depressive symptoms and neuropathic pain in the quality of life (QL) of diabetic patients with diabetic distal polyneuropathy (DDP)., Methods: Two hundred and four patients with type 2 diabetes mellitus were evaluated. The diagnosis of DDP was achieved using the Neuropathy Disability Score and Neuropathy Symptom Score questionnaires. The severity of neuropathic pain was assessed by means of a Visual Analogue Scale (VAS); the severity of depression, by means of the Beck Depression Inventory (BDI); and QL was assessed by means of the World Health Organization Quality of Life Instrument-bref (WHOQOLbref)., Results: Patients with DDP presented significant higher scores in BDI (12.6 +/- 7.2 versus 9.9 +/- 7.3; p = 0.018) and in VAS (5.0 +/- 2.4 versus 2.6 +/- 2.9; p < 0.001). They also presented significant lower scores in the physical (52.8 +/- 15.5 versus 59.2 +/- 17.0; p = 0.027) and environmental domains (56.6 +/- 12.3 versus 59.6 +/- 13.6; p = 0,045)., Conclusions: Diabetic patients with DDP presented a worse QL in the physical and environmental domains of the WHOQOL-bref, probably due to more depressive symptoms and the severity of pain.