Edoardo Guastamacchia

Health-related quality of life in a rare disease: hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease

The levels of the health-related quality of life (HR-QoL) were analyzed in hereditary hemorrhagic telangiectasia (HHT) patients. The Short Form-36 Health Survey (SF-36) was administered to 50 HHT patients and scores were compared to a cohort of 2301 normal subjects. Clinical variables were patient age, illness duration, number of epistaxis episodes in the previous year and hemoglobin levels. Physical functioning, physical role limitations, bodily pain, social functioning, emotional role limitations and the physical component scores were lower among females. In multivariable analyses increasing age was related to lower physical functioning (P < 0.04), physical role limitations (P < 0.008), bodily pain (P < 0.05) and emotional role limitations (P < 0.01), while higher hemoglobin levels improved physical functioning␣(€P < 0.03). The number of epistaxis episodes was negatively associated with physical role limitations (€P < 0.009), vitality (P < 0.002), social functioning (P < 0.001), physical component summary (€P < 0.001) and bodily pain (P < 0.01). Illness duration was negatively related to the mental component summary (P < 0.004). HHT patients had a lower HR-QoL with respect to normal controls in all domains except for bodily pain. Females had lower scores for several domains. Epistaxis was the most important clinical variable.

Prognostic role of sub-clinical hypothyroidism in chronic heart failure outpatients

BACKGROUND It has been suggested that low thyroid hormones levels may be associated with increased mortality in patients with cardiovascular disease. AIM To evaluate the prognostic role of thyroid function deficiency in patients with chronic heart failure (CHF). METHODS We evaluated 338 consecutive outpatients with stable CHF receiving conventional therapy, all of whom underwent a physical examination, electrocardiography and echocardiography. Blood samples were drawn to assess renal function, and Na+, hemoglobin, NT-proBNPs, fT3, fT4 and TSH levels. Patients with hyperthyroidism were excluded. RESULTS During the follow-up (15+/-8 months), heart failure progression was observed in 79 patients (including 18 who died of heart failure after hospitalisation and six who underwent transplantation). Univariate regression analysis showed that TSH (p<0.0001), fT3 (p<0.0001), fT4 (p=0.016) and fT3/fT4 (p<0.0001) were associated with heart failure progression but multivariate analysis showed that only TSH considered as a continuous variable (p = 0.001) as well as subclinical hypothyroidism (TSH > 5.5 mUI/l; p=0.014) remained significantly associated with the events. CONCLUSIONS In CHF patients TSH levels even slightly above normal range are independently associated with a greater likelihood of heart failure progression. This supports the need for prospective studies aimed at clarifying the most appropriate therapeutic approach to sub-clinical hypothyroidism in such patients.

Microcalcifications and Psammoma Bodies in Thyroid Tumors

Microcalcifications are a highly specific sign of malignancy being frequently detected in papillary or medullary cancers, while only 5% of nodular goiters and 3-4% of adenomas show this feature on thyroid sonogram. They correspond to clusters of psammoma bodies at cytological or histological examination. The microphotographs of cytological smears show psammoma bodies as 50 to 70 < m round-shaped calcific concretions with a glassy appearance, concentrically laminated.

Role of antioxidants, essential fatty acids, carnitine, vitamins, phytochemicals and trace elements in the treatment of diabetes mellitus and its chronic complications.

Nowadays, the treatment of diabetes mellitus is based on the variable use and combination of diet, antidiabetic oral agents (metformin, sulphanylureas, glynides, acarbose and thiazolidinediones) and insulin or its analogs, depending on the type of diabetes and the needs of the patient. The prevention and treatment of chronic micro- and macrovascular complications, on the other hand, is based on the achievement and maintenance of an optimal glycaemic control and requires the combined use of adjunctive therapy such as antihypertensive drugs and cholesterol-lowering medications. Furthermore, several herbal preparations and dietary supplements, such as antioxidants, essential fatty acids, lipid metabolism activators, vitamins and trace elements, are advertised and prescribed to patients as a useful adjuvant to a diabetic diet and conventional medications in order to improve glycaemic control and reduce the impact of chronic complications. In this regard, we have attempted to review the current concepts dealing with the usefulness of these complementary therapies in treating diabetic patients.

Role of Iodine, Selenium and Other Micronutrients in Thyroid Function and Disorders

Micronutrients, mostly iodine and selenium, are required for thyroid hormone synthesis and function. Iodine is an essential component of thyroid hormones and its deficiency is considered as the most common cause of preventable brain damage in the world. Nowadays about 800 million people are affected by iodine deficiency disorders that include goiter, hypothyroidism, mental retardation, and a wide spectrum of other growth and developmental abnormalities. Iodine supplementation, under form of iodized salt and iodized vegetable oil, produced dramatic improvements in many areas, even though iodine deficiency is still a problem not only for developing countries. In fact, certain subpopulations like vegetarians may not reach an adequate iodine intake even in countries considered iodine-sufficient. A reduction in dietary iodine content could also be related to increased adherence to dietary recommendations to reduce salt intake for preventing hypertension. Furthermore, iodine intakes are declining in many countries where, after endemic goiter eradication, the lack of monitoring of iodine nutrition can lead to a reappearance of goiter and other iodine deficiency disorders. Three different selenium-dependent iodothyronine deiodinases (types I, II, and III) can both activate and inactivate thyroid hormones, making selenium an essential micronutrient for normal development, growth, and metabolism. Furthermore, selenium is found as selenocysteine in the catalytic center of enzymes protecting the thyroid from free radicals damage. In this way, selenium deficiency can exacerbate the effects of iodine deficiency and the same is true for vitamin A or iron deficiency. Substances introduced with food, such as thiocyanate and isoflavones or certain herbal preparations, can interfere with micronutrients and influence thyroid function. Aim of this paper is to review the role of micronutrients in thyroid function and diseases.

Pulmonary arteriovenous malformations, hereditary hemorrhagic telangiectasia, and brain abscess.

Hereditary hemorrhagic telangiectasia (HHT) is a systemic angiodysplasia inherited as an autosomal dominant disease. Patients with HHT and pulmonary arteriovenous malformations (PAVMs) are at increased risk for brain abscess (BA), a potentially preventable condition as effective treatment for PAVMs is available. In a center dedicated to HHT, a history of BA was found in 6 out of 128 patients with a definite diagnosis: herewith, their histories are reported focusing on mistakes in the diagnosis and management of the disease. Patients with PAVMs and BA had a higher mean hemoglobin concentration (15.1 g/dl vs. 12.2 g/dl, p < 0.006 by Student’s t test) compared to patients with PAVMs alone. Other clinical features (genetics, bacteriology, types of PAVMs, treatments, outcomes) are also discussed. Prompt diagnosis and screening for visceral involvement is pivotal for HHT patients and their relatives.

In vitro secretion of interleukin-1β and interferon-γ by peripheral blood lymphomononuclear cells in diabetic patients

There is evidence that cytokines, in particular interleukin-1 beta (IL-1 beta) and interferon-gamma (IFN-gamma) might mediate beta cell destruction in type 1 diabetes. Therefore the secretion of these cytokines by peripheral blood lymphomononuclear cells (PBMNC) was investigated in basal conditions and 48 h after stimulation with T-cell mitogen phytohaemagglutinin (PHA) in 33 diabetic patients and in 10 normal controls. The patients were divided in 4 groups (Group 1, 10 controls; Group 2, 13 newly diagnosed type 1 diabetics, the onset had occurred from 5 days to 3 months before the study; Group 3, 10 Long Standing (LS) type 1 diabetics with duration of the disease between 2 years and 10 years; and Group 4, 10 type 2 diabetics). No difference was found among the 4 groups considered in IL-1 beta secretion by unstimulated cultures, although the percentage of TAC+ cells was significantly higher in type 1 newly diagnosed diabetic patients with respect to the LS, the type 2 diabetics and the controls. After PHA stimulation a significant increase of IL-1 beta was found in newly diagnosed type 1 diabetic patients in comparison with the control subjects, the LS and type 2 diabetic patients (P < 0.001). The supernatants of newly diagnosed type 1 diabetics also showed a significant reduction in IFN-gamma production both in basal (P < 0.01) and in stimulated conditions (P < 0.001) in comparison with the controls, the LS (P < 0.002 in basal, and P < 0.001 in stimulated conditions) and the type 2 diabetic patients (P < 0.001 both in basal and stimulated conditions).(ABSTRACT TRUNCATED AT 250 WORDS)

Modifications of the immune responsiveness in patients with autoimmune thyroiditis: Evidence for a systemic immune alteration

Hashimotos thyroiditis, the most common form of autoimmune thyroid disease, is characterised by lymphocytic infiltration of the thyroid gland, gradual destruction of the organ and production of thyroid specific auto antibodies (antithyroid peroxidase and antithyroglobulin antibodies). There are evidences that cast doubt on the pathogenetic role of these antibodies in thyroid autoimmunity. It is very likely that cellular destruction is mediated by other cellular mechanisms, such as auto reactive T-lymphocytes, natural killer and cytokines. However, other studies performed in animal models have led to the conclusion that organ specific autoimmune thyroiditis should be regarded as a polygenic disease with a penetrance that is strongly influenced by environmental factors. According to our recent results, patients affected by autoimmune thyroiditis exhibited a decreased percentage of NK and CD25 + bearing cells significantly in comparison to normal controls. Altogether these data indicated that in the patients with autoimmune thyroid disease a certain degree of peripheral immune deficiency was present.

Possible Role of Hyperinsulinemia and Insulin Resistance in Lower Vitamin D Levels in Overweight and Obese Patients

A cohort of 66 healthy overweight and obese patients, 53 women and 13 men were examined. Waist circumference and fasting 25(OH)D, insulin, glucose, lipid (cholesterol, HDL cholesterol, and triglyceride), C-reactive protein (CRP), and complement 3 (C3), and 4 (C4) serum concentrations were measured. Insulin resistance was assessed by the homeostasis model assessment (HOMAIR). Results. 25(OH)D levels showed a significant negative correlation with BMI (P < 0.01), waist circumference (P < 0.05), fasting insulin (P < 0.01), HOMAIR (P < 0.01), triglycerides (P < 0.01), CRP (P < 0.01), C3 (P < 0.05), and C4 (P < 0.05). Multiple regression analyses were performed with 25(OH)D as the dependent variable and BMI (or waist circumferences), fasting insulin (or HOMAIR), triglycerides, and CRP (or C3 or C4) as independent variables. Only insulin or HOMAIR maintained a significant independent association with 25(OH)D levels, whereas vitamin D did not maintain a significant independent association with CRP or C3 or C4 concentrations. Conclusions. The present study, performed in overweight and obese subjects, shows that 25(OH)D levels are negatively associated with inflammatory parameters such as CRP and C3 and C4 levels, but not independently of BMI, body fat distribution, insulin levels, or insulin resistance. Our results suggest that hyperinsulinemia and/or insulin resistance are directly responsible for decrease of 25(OH)D levels in obesity.

Subclinical Hypothyroidism and Cognitive Dysfunction in the Elderly

While overt hypothyroidism is associated with reversible dementia in the elderly, the relationship of subclinical hypothyroidism with cognition remains a controversial issue. Our aim was to investigate the correlation between subclinical hypothyroidism and cognition in the elderly, with particular reference to long term memory and selective attention. We selected 337 outpatients (177 men and 160 women), mean age 74.3 years, excluding the subjects with thyroid dysfunction and those treated with drugs influencing thyroid function. The score of Mini Mental State Examination (MMSE) was significantly lower in the group of patients with subclinical hypothyroidism than in euthyroid subjects (p<0.03). It was observed that patients with subclinical hypothyroidism had a probability about 2 times greater (RR = 2.028, p<0.05) of developing cognitive impairment. Prose Memory Test (PMT) score resulted significantly lower in subjects with subclinical hypothyroidism (p<0.04). Considering the Matrix Test (MT) score, the performance was slightly reduced in subclinical hypothyroidism (NS). Furthermore, TSH was negatively correlated with MMSE (p<0.04), PMT (p<0.05) and MT score (NS). No correlation was found between FT4 and FT3 and MMSE, PMT and MT score. In the elderly, subclinical hypothyroidism is associated with cognitive impairment, and its impact on specific aspects of cognition (long term memory and selective attention) is less evident.