G-quadruplexes or G4s are non-canonical secondary structures of nucleic acids characterized by guanines arranged in stacked tetraplex arrays. Decades of research into these peculiar assemblies of DNA and RNA, fueled by the development and optimization of a vast array of techniques and assays, has resulted in a large amount of information regarding their structure, stability, localization, and biological significance in native systems. A plethora of articles have reported the roles of G-quadruplexes in multiple pathways across several species, ranging from gene expression regulation to RNA biogenesis and trafficking, DNA replication, and genome maintenance.
View Article and Find Full Text PDFThis study evaluated the effect of a natural source of vitamin D [1,25-(OH)D] and capsaicin (CAP) in the dietary supplementation of sows in the final phase (85-114 days) of gestation (Gest) and lactation (Lact) on the reproductive performance of the sows and health of piglets through two experiments (Exp I and II). In Exp I, 120 sows were subjected to four treatments: T1-control (without [1,25-(OH)D] and supplemental CAP); T2-3.5 µg 1,25-(OH)D/Gest/day and 7.
View Article and Find Full Text PDFParagangliomas and pheochromocytomas are rare neuroendocrine tumors, carrying a germ-line mutation in 40% patients. Sclerosis is a rare histological feature in these tumors. We investigated the possible correlations between histological findings, first sclerosis, immunoreactivity for vesicular catecholamine transporters (VMAT1/VMAT2) and patients' genotype in a consecutive series of 57 tumors (30 paragangliomas and 27 pheochromocytomas) from 55 patients.
View Article and Find Full Text PDFBackground: The expression of vesicular catecholamine transporters (VMAT1 and 2) in pheochromocytomas (PHEOs) and paragangliomas (PGLs) and the possible relationships with [18F]FDOPA PET/CT and [123I]MIBG scintigraphy uptake are unknown. Our purpose was to investigate possible correlations of either VMAT1 and VMAT2 expression with the functional imaging in patients with PHEOs and PGLs.
Methods: An observational 3-year time study was performed by enrolling 31 consecutive patients with PHEO (N.
Genome instability is a condition characterized by the accumulation of genetic alterations and is a hallmark of cancer cells. To uncover new genes and cellular pathways affecting endogenous DNA damage and genome integrity, we exploited a Synthetic Genetic Array (SGA)-based screen in yeast. Among the positive genes, we identified VID22, reported to be involved in DNA double-strand break repair.
View Article and Find Full Text PDFAims: Optimal management of redundant or malfunctioning leads is controversial. We aimed to assess safety and efficacy of mechanical transvenous lead extraction (TLE) in patients with abandoned leads.
Methods And Results: Consecutive TLE procedures performed in our centre from January 2009 to December 2017 were considered.
Objective: To quantify the bone volume that can be safely withdrawn from 3 donor sites: (1) the mandibular symphysis, (2) the oblique mandibular line and (3) the skullcap.
Methodology: For the symphysis, 200 tomographic exams were evaluated by the extension of the anterior loop of mental foramen, by the nerve, by the distance of the foramens, by the distance between the vestibular cortical and the lingual plates and by the distance between the apexes, or lower anterior teeth, and the mandibular base, using the "distance" tool of the I-CAT Vision, in the panoramic and parasagittal reformations. For the oblique line, 70 TCFC exams were analyzed retrospectively in panoramic and parasagittal reformations, evaluating the thickness of the vestibular cortical and the distance between the cortical and the mandibular canal.
A 43-years old woman was diagnosed an adrenocortical carcinoma (AC) that was excised, whereas two lung metastases were un-operable. Mitotane 6 g/day was started as standard therapy but it was responsible for severe central nervous system (CNS) and gastrointestinal toxicities associated with a 10 kg body weight loss. A therapeutic drug monitoring (TDM) protocol demonstrated that mitotane plasma concentrations (>30 mg/L) exceeded the therapeutic range (14-20 mg/L) and increased even when drug daily dose was reduced by 50%.
View Article and Find Full Text PDFThe invasive pest Drosophila suzukii has evolved morphological and behavioural adaptations to lay eggs under the skin of fresh fruits. This results in severe damage to a wide range of small fruits. Drosophila suzukii females typically lay few eggs per fruit, preferring healthy fruits.
View Article and Find Full Text PDFPrimary aldosteronism (PA) causes cardiovascular damage in excess to the blood pressure elevation, but there are no prospective studies proving a worse long-term prognosis in adrenalectomized and medically treated patients. We have, therefore, assessed the outcome of PA patients according to treatment mode in the PAPY study (Primary Aldosteronism Prevalence in Hypertension) patients, 88.8% of whom were optimally treated patients with primary (essential) hypertension (PH), and the rest had PA and were assigned to medical therapy (6.
View Article and Find Full Text PDFContext: Maffucci syndrome is a rare, nonhereditary, mesodermal dysplastic disease characterized by the presence of multiple hemangiomas and enchondromas. This pathological condition, which is often unrecognized, is associated with a high prevalence of benign and malignant endocrine tumors involving pituitary, adrenal, thyroid, and parathyroid glands.
Case Description: We describe the case of a young patient presenting a history suggestive of secondary arterial hypertension and typical features of Maffucci syndrome (multiple hemangiomas and enchondromas), which were unrecognized over the previous 3 decades.
Introduction: The European Directive 2013/59/EURATOM requires patient radiation dose information to be included in the medical report of radiological procedures. To provide effective communication to the patient, it is necessary to first assess the patient's level of knowledge regarding medical exposure. The goal of this work is to survey patients' current knowledge level of both medical exposure to ionizing radiation and professional disciplines and communication means used by patients to garner information.
View Article and Find Full Text PDFObjective: We aimed at developing and validating a simple, highly repeatable computer-based tool, which could be employed to simulate the effects of an acute mental stress on endocrine and haemodynamic stress responses.
Methods: Fifteen subjects underwent a mental cognitive challenge, employing an ad hoc designed web tool (available at http://bagame.altervista.
Background: Vitamin D deficiency is related to an increased prevalence of cardiovascular disease. Renin-angiotensin-aldosterone system suppression and vascular dysfunction are considered among the main mechanisms implicated in this association. However, interventional studies demonstrating that vitamin D replacement reduces circulating renin-angiotensin-aldosterone components and improves vascular function in humans are still lacking.
View Article and Find Full Text PDFCushing's Syndrome (CS) is associated with a specific spectrum of dementia-like symptoms, including psychiatric disorders, such as major depression, anxiety and mania, and neurocognitive alterations, like impairment of memory and concentration. This pattern of clinical complications, which significantly impair the health-related quality of life of CS patients, is sometimes referred to as "steroid dementia syndrome" (SDS). The SDS is the result of anatomical and functional anomalies in brain areas involved in the processing of emotion and cognition, which are only partially restored after the biochemical remission of the disease.
View Article and Find Full Text PDFBackground: Essential hypertension arises from the combined effect of genetic and environmental factors. A pharmacogenomics approach could help to identify additional molecular mechanisms involved in its pathogenesis.
Aim: The aim of SOPHIA study was to identify genetic polymorphisms regulating blood pressure response to the angiotensin II receptor blocker, losartan, with a whole-genome approach.
Context: Adrenal vein sampling (AVS) is the only reliable means to distinguish between aldosterone-producing adenoma and bilateral adrenal hyperplasia, the two most common subtypes of primary aldosteronism (PA). AVS protocols are not standardized and vary widely between centers.
Objective: The objective of the study was to retrospectively investigate whether the presence of contralateral adrenal (CL) suppression of aldosterone secretion was associated with improved postoperative outcomes in patients who underwent unilateral adrenalectomy for PA.
In the absence of syndromes, bilateral dentigerous cysts (DC) located on the jaws are unusual. In English based language literature review, we only found eight reports of nonsyndromic bilateral dentigerous cyst associated with mandibular third molars. Therefore, we report the unusual occurrence of sizable nonsyndromic bilateral DC associated with mandibular impacted third molars in a 42-year-old Caucasian woman.
View Article and Find Full Text PDFPrimary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in aldosterone-producing adenomas (APAs). Our aim was to investigate the prevalence of somatic mutations in these genes in unselected patients with APA (n=474), collected through the European Network for the Study of Adrenal Tumors.
View Article and Find Full Text PDFPurpose: The objective of this study was to establish the clinical value of F-DOPA PET/CT in patients with adrenal and extra-adrenal paragangliomas (PGLs).
Methods: Twenty-six consecutive patients with suspected or recurrent PGL underwent MR (and/or CT) and F-DOPA PET/CT. Histopathology confirmation was obtained in 20 cases.
Introduction: The aim of the study was to assess the age-specific, sex-specific, and region-specific average sodium and potassium intake and its association with anthropometric characteristics in a sample of the Italian adult hypertensive population.
Methods: A total of 1232 hypertensive patients were recruited consecutively by 47 centers recognized by the Italian Society of Hypertension. The enrolled participants were on stable antihypertensive treatment.