Background Primary hyperparathyroidism is an endocrine pathology that affects calcium metabolism. Patients with primary hyperparathyroidism have high concentrations of serum calcium or high concentrations of parathyroid hormone, or incorrect parathyroid hormone levels for serum calcium values. Primary hyperparathyroidism is due to the presence of an adenoma/single-gland disease in 80–85%. Multiple gland disease or hyperplasia accounts for 10–15% of cases of primary hyperparathyroidism. Atypical parathyroid adenoma and parathyroid carcinoma are both responsible for about 1.2–1.3% and 1% or less of primary hyperparathyroidism, respectively. Methods We performed a retrospective cohort study and enrolled 117 patients with primary hyperparathyroidism undergoing minimally invasive parathyroidectomy. Histological and immunohistochemical examination showed that 107 patients (91.5%) were diagnosed with typical adenoma (group A), while 10 patients (8.5%) were diagnosed with atypical parathyroid adenoma (group B). None of the patients were affected by parathyroid carcinoma. Results Significant statistical differences were found in histological and immunohistochemical parameters as pseudocapsular invasion (p < 0.001), bands of fibrosis (p < 0.001), pronounced trabecular growth (p < 0.001), mitotic rates of > 1/10 high-power fields (HPFs) (p < 0.001), nuclear pleomorphism (p = 0.036), thick capsule (p < 0.001), Ki-67+ > 4% (p < 0.001), galectin-3 + (p = 0.002), and protein gene product (PGP) 9.5 + (p = 0.038). Conclusions Atypical parathyroid adenoma is a tumor that has characteristics both of typical adenoma and parathyroid carcinoma. The diagnosis is reached by excluding with strict methods the presence of malignancy criteria. Atypical parathyroid adenoma compared to typical adenoma showed significant clinical, hematochemical, histological, and immunohistochemical differences. We did not find any disease relapse in the 10 patients with atypical parathyroid adenoma during 60 months of follow-up time.
Collagen VI mutations lead to disabling myopathies like Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). We have investigated the nutritional and metabolic status of one UCMD and seven BM patients (five female, three male, mean age 31 ± 9 years) in order to find a potential metabolic target for nutritional intervention. For this study, we used standard anthropometric tools, such as BMI evaluation and body circumference measurements. All results were compared to dual-energy X-ray absorptiometry (DXA), considered the “gold standard” method. Energy intake of each patient was evaluated through longitudinal methods (7-day food diary) while resting energy expenditure (REE) was predicted using specific equations and measured by indirect calorimetry. Clinical evaluation included general and nutritional blood and urine laboratory analyses and quantitative muscle strength measurement by hand-held dynamometry. BM and UCMD patients showed an altered body composition, characterized by low free fat mass (FFM) and high fat mass (FM), allowing us to classify them as sarcopenic, and all but one as sarcopenic-obese. Another main result was the negative correlation between REE/FFM ratio (basal energy expenditure per kilograms of fat-free mass) and the severity of the disease, as defined by the muscle megascore (correlation coefficient −0.955, P-value <0.001). We postulate that the increase of the REE/FFM ratio in relation to the severity of the disease may be due to an altered and pathophysiological loss of energetic efficiency at the expense of skeletal muscle. We show that a specific metabolic disequilibrium is related to the severity of the disease, which may represent a target for a nutritional intervention in these patients.
The implementation of screening programs for early detection of patients with sickle cell disease has become necessary in Italy as a result of the high rate of migration from areas with a high prevalence of the disease (Sub-Saharan Africa, Middle East and the Balkans). Following a pilot study performed in the province of Modena, Italy in 2011-2013, an official screening program was established on May 31 2014 for all pregnant women, free-of-charge for the family according to the National Guidelines for Physiological Pregnancy. Hemoglobin (Hb) profiles of pregnant women within 10 weeks of pregnancy, of new mothers at delivery and of the newborns of mothers with variant Hb profiles (newborns at-risk), were evaluated by high performance liquid chromatography (HPLC). Samples from 17,077 new mothers were analyzed and 993 showed alteration of Hb patterns (5.8%) (1.0% Hb AS carriers); of the 1011 at-risk newborns, four (0.4%) carried sickle cell disease and 90 (8.9%) were Hb AS carriers. These data show that early diagnosis of sickle cell disease or carrier status can be obtained in high-risk newborns, providing valuable information on the frequency of these conditions in geographic areas in which the disease is historically rare.
Background: The existence of a link between Graves’ Disease (GD) and Thyroid Cancer (TC) has long been investigated, however a clear pathogenic correlation has still to be found. Methods: In this study we analyzed retrospectively a cohort of 151 patients treated at our Clinic with total thyroidectomy between 2013 and 2018. All patients were symptomatic at the time of surgery, preoperatively ultrasonographic (US) study was performed to evaluate the presence of nodules and their distribution. All patients reached euthyroid state before surgery. Objective: We verified the presence of TC in patients submitted to surgery for GD, both with and without thyroid nodules (TN). Results: Nodules were detected in 53% of cases, above 60 y.o. at least one nodule was found, younger patients more frequently were nodules free. Bilateral diffusion of nodules appeared with increasing age. Cancer was found in 19 of 151 subjects (12.5%), all were papillary carcinomas, among them 93% were microcarcinomas. Among cancer-proven patients, 14 had thyroid nodules while 5 where nodule-free. During the follow up period no cancer recurrence was recorded. The most common complication after surgery was transient hypocalcemia (36%). Conclusions: Graves’ patients are burdened by major incidence of TC in the context of their TN. Pre-operative assessment in GD patients should consider the risk of cancer, US scan can help in rapid evaluation of nodules and new rising frontiers in molecular biomarkers analysis may help defining pathogenic basis of Graves’ neoplastic development.
Dialysis patients present a cardiovascular risk substantially higher than general population, due to both traditional and non-traditional risk factors. Hemorheologic alterations have been extensively described in hemodialysis patients (HD), while little data on hemorheology exist about peritoneal dialysis patients (PD). Aim of our study is to characterize the hemorheological profile of 49 PD, and to compare these data with HD and healthy volunteers. PD showed an improvement of parameters related to macro-circulation (plasma viscosity, whole blood viscosity at 1-Hz, erythrocyte aggregation index and yield stress) when compared to HD, while microcirculatory function resulted severely impaired, as expressed by high values for whole blood viscosity 200-Hz shear rate and lower erythrocyte deformability (ED). In conclusion, we found hemorheologic alterations in PD, with substantial differences with respect to HD; in particular, PD showed profound dysfunction in microcirculatory flow with impaired ED. This alterations may act as a risk factor for accelerated atherosclerosis and precipitate cardiovascular events, and it may have a detrimental effect in the peritoneal microcirculation promoting endothelial activation with subsequent fibrosis, leading to peritoneal membrane malfunctioning.
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