A rare case report of hypertrophic cardiomyopathy induced by catecholamine-producing tumor

RATIONALE: Catecholamine-producing tumors are rare, occurring in less than 0.2% of patients with hypertension, but can have relevant cardiovascular morbidity and mortality. PATIENT CONCERNS: A 37-year-old woman presented with a history of dyspnea, chest pain, palpitations, and paroxysmal hypertension. Electrocardiogram, echocardiogram, and cardiac magnetic resonance showed severe LVH with a prevalent involvement of the anterior portion of interventricular septum. Endomyocardial biopsy found severe hypertrophy with disarray of cardiomyocytes and ultrastructural evidence of contraction and necrosis of myocytes. Hormone investigations revealed high values of 24-hours urinary metanephrines. Abdominal computed tomography (CT) showed an enlarged left adrenal gland with a strong uptake of I-metaiodobenzylguanidine at scintigraphy scan. INTERVENTIONS:Thus, the adrenal tumor was surgically removed. OUTCOMES: At follow-up examination, the patient's metanephrines levels were normalized and the transthoracic echocardiogram showed a reduction of LVH. DIAGNOSIS AND LESSONS: We report a rare case of catecholamine-induced cardiomyopathy due to an adrenal adenoma mixed with nodules enriched in epinephrine-types secreting granules

early life weight patterns and risk of obesity at 5 years a population based cohort study

Abstract Childhood obesity is a major public health problem in industrialised countries. Recent studies suggest that obesity in adolescence is associated with characteristics present in early childhood. The aim of this study was to estimate the risk of overweight/obesity at age 5 yr based on BMI percentiles at age 3 and changes in percentiles from birth to 3 years of age. In this population-based study BMI data of 5173 children were collected at ages 3 and 5 yr and were linked to information relative to birth weight. The prevalence of obesity at 5 yr was 4.5%. The risk of obesity for children born large for gestational age was 8.4% while it was 13.8% for children overweight at 3 years and 49.8% for children who were obese at 3 yr, regardless of their previous weight trajectory (the prevalences were 50%, 50% and 53% for stable, moderate and strong increasing trajectory, respectively). BMI percentile at 3 years proved to be an efficient biomarker for sustained obesity at age 5 yr. In practice, if one targeted early preventive interventions to only 15% of the population (3-year-olds affected by overweight/obesity) one can address 80% of children who would be affected by obesity at age 5 yr

Cardiovascular risk and access to primary care: Comparisons among Chinese documented and undocumented immigrants

Aims: The aim of this study was to examine main risk factors of undocumented Chinese migrants living in Italy when compared with Chinese migrants registered with National Health Service (NHS). Methods: A cohort of 3435 Chinese first-generation immigrants living in Prato underwent blood pressure (BP) measurement and blood tests. Hypertension was diagnosed for BP ≥ 140/90 mmHg at 2 visits, and/or antihypertensive drug use; type 2 diabetes (T2DM) for fasting glucose ≥ 126 mg/dL at 2 visits, and/or use of hypoglycemic drugs; hypercholesterolemia (HC) for cholesterol ≥ 240 mg/dL and/or statins use. Subjects diagnosed with hypertension, T2DM, or HC unaware of their condition were considered newly diagnosed. Comparisons were performed using multivariable adjusted logistic regression analysis. Results: A large proportion of Chinese migrants were undocumented (1766, 51 %); newly diagnoses of risk factors were performed especially among undocumented migrants; registration with NHS was associated with higher level of awareness for hypertension and T2DM and with 6 times higher rate of treatment for T2DM. Only a small minority of subjects with high cholesterol were treated with statins. Conclusions: Undocumented immigrants had high prevalence of risk factors with lower levels of awareness than migrants registered with the NHS. Health policies targeting this hard-to-reach population needs to be improved

Giovanni Canestrini's heritage at the Zoology Museum of Padova University (Italy): a rediscovery of his arachnological collections and described species

Giovanni Canestrini (1835–1900) was the pioneer of arachnology in Italy, who published the first catalogue of Italian spiders and a total of 87 papers in the field. His interests covered almost all the Italian arachnid orders, although in the last part of his life he focused on acarology, in which he became a leading world expert. The remains of Canestrini's arachnological collection deposited in the Zoology Museum of Padova University are represented by spiders (about 850 tubes), mites (438 microscope slides, 115 tubes), harvestmen (120), pseudoscorpions (63), scorpions (19) and solifuges (1). The collection is now part of a large revision project aiming at better understanding and clarifying the scientific heritage of Canestrini, including an inventory of the type material from Canestrini and other European arachnologists who contributed to his collection (e.g., T. Thorell). The first results of the collection revision outlining different arachnid orders and highlighting the occurrence of type material are presented here. Brief historical information on Canestrini and his pupils is also provided

Supplementation with ribonucleotide-based ingredient (Ribodiet®) lessens oxidative stress, brain inflammation, and amyloid pathology in a murine model of Alzheimer

Abstract Alzheimer's disease (AD) is the most common type of dementia worldwide, characterized by the deposition of neurofibrillary tangles and amyloid-β (Aβ) peptides in the brain. Additionally, increasing evidence demonstrates that a neuroinflammatory state and oxidative stress, iron-dependent, play a crucial role in the onset and disease progression. Besides conventional therapies, the use of natural-based products represents a future medical option for AD treatment and/or prevention. We, therefore, evaluated the effects of a ribonucleotides-based ingredient (Ribodiet®) in a non-genetic mouse model of AD. To this aim, mice were injected intracerebroventricularly (i.c.v.) with Aβ1–42 peptide (3 µg/3 μl) and after with Ribodiet® (0.1–10 mg/mouse) orally (p.o.) 3 times weekly for 21 days following the induction of experimental AD. The mnemonic and cognitive decline was then evaluated, and, successively, we have assessed ex vivo the modulation of different cyto-chemokines on mice brain homogenates. Finally, the level of GFAP, S100β, and iron-related metabolic proteins were monitored as markers of reactive gliosis, neuro-inflammation, and oxidative stress. Results indicate that Ribodiet® lessens oxidative stress, brain inflammation, and amyloid pathology via modulation of iron-related metabolic proteins paving the way for its rationale use for the treatment of AD and other age-related diseases

Specific miRNAs Change After 3 Months of GH treatment and Contribute to Explain the Growth Response After 12 Months

Context: There is growing evidence of the role of epigenetic regulation of growth, and miRNAs potentially play a role. Objective: The aim of this study is to identify changes in circulating miRNAs following GH treatment in subjects with isolated idiopathic GH deficiency (IIGHD) after the first 3 months of treatment, and verify whether these early changes can predict growth response. Design and methods: The expression profiles of 384 miRNAs were analyzed in serum in 10 prepubertal patients with IIGHD (5 M, 5 F) at two time points before starting GH treatment (t-3, t0), and at 3 months on treatment (t+3). MiRNAs with a fold change (FC) >+1.5 or <-1.5 at t+3 were considered as differentially expressed. In silico analysis of target genes and pathways led to a validation step on 8 miRNAs in 25 patients. Clinical and biochemical parameters were collected at baseline, and at 6 and 12 months. Simple linear regression analysis and multiple stepwise linear regression models were used to explain the growth response. Results: Sixteen miRNAs were upregulated and 2 were downregulated at t+3 months. MiR-199a-5p (p = 0.020), miR-335-5p (p = 0.001), and miR-494-3p (p = 0.026) were confirmed to be upregulated at t+3. Changes were independent of GH peak values at testing, and levels stabilized after 12 months. The predicted growth response at 12 months was considerably improved compared with models using the common clinical and biochemical parameters. Conclusions: MiR-199a-5p, miR-335-5p, and miR-494-3p changed after 3 months of GH treatment and likely reflected both the degree of GH deficiency and the sensitivity to treatment. Furthermore, they were of considerable importance to predict growth response.Context: There is growing evidence of the role of epigenetic regulation of growth, and miRNAs potentially play a role. Objective: The aim of this study is to identify changes in circulating miRNAs following GH treatment in subjects with isolated idiopathic GH deficiency (IIGHD) after the first 3 months of treatment, and verify whether these early changes can predict growth response. Design and methods: The expression profiles of 384 miRNAs were analyzed in serum in 10 prepubertal patients with IIGHD (5 M, 5 F) at two time points before starting GH treatment (t-3, t0), and at 3 months on treatment (t+3). MiRNAs with a fold change (FC) >+1.5 or <-1.5 at t+3 were considered as differentially expressed. In silico analysis of target genes and pathways led to a validation step on 8 miRNAs in 25 patients. Clinical and biochemical parameters were collected at baseline, and at 6 and 12 months. Simple linear regression analysis and multiple stepwise linear regression models were used to explain the growth response. Results: Sixteen miRNAs were upregulated and 2 were downregulated at t+3 months. MiR-199a-5p (p = 0.020), miR-335-5p (p = 0.001), and miR-494-3p (p = 0.026) were confirmed to be upregulated at t+3. Changes were independent of GH peak values at testing, and levels stabilized after 12 months. The predicted growth response at 12 months was considerably improved compared with models using the common clinical and biochemical parameters. Conclusions: MiR-199a-5p, miR-335-5p, and miR-494-3p changed after 3 months of GH treatment and likely reflected both the degree of GH deficiency and the sensitivity to treatment. Furthermore, they were of considerable importance to predict growth response

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort of 1,808 patients with frontotemporal lobar degeneration (FTLD), ascertained within the European Early-Onset Dementia consortium. As control dataset, we sequenced 1,625 European control individuals and analyzed whole-exome sequence data of 2,274 German individuals (total n = 3,899). Association of rare SQSTM1 mutations was calculated in a meta-analysis of 4,332 FTLD and 10,240 control alleles. We identified 25 coding variants in FTLD patients of which 10 have not been described. Fifteen mutations were absent in the control individuals (carrier frequency < 0.00026) whilst the others were rare in both patients and control individuals. When pooling all variants with a minor allele frequency < 0.01, an overall frequency of 3.2 % was calculated in patients. Rare variant association analysis between patients and controls showed no difference over the whole protein, but suggested that rare mutations clustering in the UBA domain of SQSTM1 may influence disease susceptibility by doubling the risk for FTLD (RR = 2.18 [95 % CI 1.24-3.85]; corrected p value = 0.042). Detailed histopathology demonstrated that mutations in SQSTM1 associate with widespread neuronal and glial phospho-TDP-43 pathology. With this study, we provide further evidence for a putative role of rare mutations in SQSTM1 in the genetic etiology of FTLD and showed that, comparable to other FTLD/ALS genes, SQSTM1 mutations are associated with TDP-43 pathology

The Role of Antioxidants in the Interplay between Oxidative Stress and Senescence

Cellular senescence is an irreversible state of cell cycle arrest occurring in response to stressful stimuli, such as telomere attrition, DNA damage, reactive oxygen species, and oncogenic proteins. Although beneficial and protective in several physiological processes, an excessive senescent cell burden has been involved in various pathological conditions including aging, tissue dysfunction and chronic diseases. Oxidative stress (OS) can drive senescence due to a loss of balance between pro-oxidant stimuli and antioxidant defences. Therefore, the identification and characterization of antioxidant compounds capable of preventing or counteracting the senescent phenotype is of major interest. However, despite the considerable number of studies, a comprehensive overview of the main antioxidant molecules capable of counteracting OS-induced senescence is still lacking. Here, besides a brief description of the molecular mechanisms implicated in OS-mediated aging, we review and discuss the role of enzymes, mitochondria-targeting compounds, vitamins, carotenoids, organosulfur compounds, nitrogen non-protein molecules, minerals, flavonoids, and non-flavonoids as antioxidant compounds with an anti-aging potential, therefore offering insights into innovative lifespan-extending approaches

CALOCUBE: An approach to high-granularity and homogenous calorimetry for space based detectors

Future space experiments dedicated to the observation of high-energy gamma and cosmic rays will increasingly rely on a highly performing calorimetry apparatus, and their physics performance will be primarily determined by the geometrical dimensions and the energy resolution of the calorimeter deployed. Thus it is extremely important to optimize its geometrical acceptance, the granularity, and its absorption depth for the measurement of the particle energy with respect to the total mass of the apparatus which is the most important constraint for a space launch. The proposed design tries to satisfy these criteria while staying within a total mass budget of about 1.6 tons. Calocube is a homogeneous calorimeter instrumented with Cesium iodide (CsI) crystals, whose geometry is cubic and isotropic, so as to detect particles arriving from every direction in space, thus maximizing the acceptance; granularity is obtained by filling the cubic volume with small cubic CsI crystals. The total radiation length in any direction is more than adequate for optimal electromagnetic particle identification and energy measurement, whilst the interaction length is at least sufficient to allow a precise reconstruction of hadronic showers. Optimal values for the size of the crystals and spacing among them have been studied. The design forms the basis of a three-year R&amp;D activity which has been approved and financed by INFN. An overall description of the system, as well as results from preliminary tests on particle beams will be described