Classification of Congenital Leptin Deficiency.

Purpose: Biallelic pathogenic leptin gene variants cause severe early-onset obesity usually associated with low or undetectable circulating leptin levels. Recently, variants have been described resulting in secreted mutant forms of the hormone leptin with either biologically inactive or antagonistic properties.

Methods: We conducted a systematic literature research supplemented by unpublished data from patients at our center as well as new in vitro analyses to provide a systematic classification of congenital leptin deficiency based on the molecular and functional characteristics of the underlying leptin variants and investigated the correlation of disease subtype with severity of the clinical phenotype.

Rare Antagonistic Leptin Variants and Severe, Early-Onset Obesity.

Hormone absence or inactivity is common in congenital disease, but hormone antagonism remains controversial. Here, we characterize two novel homozygous leptin variants that yielded antagonistic proteins in two unrelated children with intense hyperphagia, severe obesity, and high circulating levels of leptin. Both variants bind to the leptin receptor but trigger marginal, if any, signaling.

The role of Del Nido Cardioplegia in reducing postoperative atrial fibrillation after cardiac surgery in patients with impaired cardiac function.

Background: Postoperative atrial fibrillation (POAF) occurs in 20% to 40% of patients who underwent cardiac surgery and can compromise the postoperative course, especially in those with reduced left ventricular ejection fraction. The most common causes are related to surgical trauma and the high variations in volemic and electrolyte balance in the postoperative period.

Objectives: As cardioplegic solutions can significantly impact both these factors, the study aimed to assess the role of Del Nido (DN) cardioplegia on the onset of POAF.

Pilot Study on the Geographical Mapping of Genetic Diversity among European Chestnut ( Mill.) Cultivars in Southern Italy.

Knowledge of the spatial distribution of European chestnut ( Mill.) cultivar diversity is essential for managing and conserving the genetic resources of this fruit tree species in Southern Italy. To this goal, the present work investigated the feasibility of mapping, through spatial representation, the distribution of genetic diversity of traditional chestnut varieties in the area of the Roccamonfina Regional Park in the Campania Region.

Investigating phenotypic relationships in persimmon accessions through integrated proteomic and metabolomic analysis of corresponding fruits.

Together with phenological and genomic approaches, gel-based and label-free proteomic as well metabolomic procedures were separately applied to plants to highlight differences between ecotypes, to estimate genetic variability within/between organism populations, or to characterize specific mutants/genetically modified lines at metabolic level. To investigate the possible use of tandem mass tag (TMT)-based quantitative proteomics in the above-mentioned contexts and based on the absence of combined proteo-metabolomic studies on cultivars, we here applied integrated proteomic and metabolomic approaches to fruits from Italian persimmon ecotypes with the aim to characterize plant phenotypic diversity at molecular level. We identified 2255 proteins in fruits, assigning 102 differentially represented components between cultivars, including some related to pomological, nutritional and allergenic characteristics.

Agronomic, Physicochemical, Aromatic and Sensory Characterization of Four Sweet Cherry Accessions of the Campania Region.

Sweet cherries ( L.) are greatly appreciated fruits worldwide due to their taste, color, nutritional value, and beneficial health effects. The characterization of autochthonous germplasm allows to identify genotypes that possess superior characteristics compared to standard cultivars.

Single Nucleotide Polymorphisms as Practical Molecular Tools to Support European Chestnut Agrobiodiversity Management.

European chestnut orchards are multifunctional agroforestry systems with a key role in environmental management. Their biodiversity is at risk of erosion and farmers do not have enough tools to protect and valorize traditional ecotypes. In particular, cost effective and reliable molecular markers for cultivar identification are lacking.

Role of Troponin Determination to Diagnose Chest Pain in the Pediatric Emergency Department.

Objectives: Chest pain is a common cause to admission to the pediatric emergency department and often leads to an extensive cardiac evaluation. The objective of this study was to evaluate the usefulness of the troponin (TN) plasma level determination in the initial phase of the differential diagnosis of chest pain in children.

Methods: This is a retrospective observational study on 107 patients, aged 0 to 19 years, admitted for chest pain to the pediatric emergency department of our institution.

Diastasis of rectus abdominis muscles: patterns of anatomical variation as demonstrated by ultrasound.

Purpose: The aim of our study was to categorise the anatomical variations of rectus abdominis muscle diastasis (diastasis recti) by using ultrasound (US).

Material And Methods: In a one-year period 92 women were evaluated with US because of suspected diastasis of rectus muscles. Patients were examined in a supine position, with head extended, upper limbs aligned to the trunk, and knees flexed.

Differential modulatory effects of Propofol and Sevoflurane anesthesia on blood monocyte HLA-DR and CD163 expression during and after cardiac surgery with cardiopulmonary bypass: a preliminary randomized flow cytometry study.

Introduction: The increase of the anti-inflammatory CD163HLA-DR blood monocyte subset is one of the mechanisms dampening inflammation during cardiac surgery with cardiopulmonary bypass. We evaluated the effect of two different anesthetic protocols, intravenous Propofol infusion or Sevoflurane-gas administration, on the perioperative frequency of this subset.

Methods: Blood from patients (Propofol = 11, Sevoflurane = 13) undergoing minimally invasive mitral valve surgery was drawn preoperatively (T1), before declamping (T2), at 6 (T3), 24 (T4), 48 (T5), and 72 hours (T6) after declamping.

High throughput measure of diversity in cytoplasmic and nuclear traits for unravelling geographic distribution of rosemary.

In the present work, variability of both cytoplasmic and nuclear microsatellite traits was investigated with the aim of characterizing a set of rosemary germplasm resources (). Most of the materials were collected in Italy and France. High-resolution melting curves were compared each other computing their Euclidean distances and estimating the differences within their principal component as a measure of genetic diversity.

A Spotlight on Rad52 in Cyanidiophytina (Rhodophyta): A Relic in Algal Heritage.

The RADiation sensitive52 (RAD52) protein catalyzes the pairing between two homologous DNA sequences' double-strand break repair and meiotic recombination, mediating RAD51 loading onto single-stranded DNA ends, and initiating homologous recombination and catalyzing DNA annealing. This article reports the characterization of RAD52 homologs in the thermo-acidophilic Cyanidiophyceae whose genomes have undergone extensive sequencing. Database mining, phylogenetic inference, prediction of protein structure and evaluation of gene expression were performed in order to determine the functionality of the RAD52 protein in Cyanidiophyceae.

Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.

Several case series of extreme early-onset obesity due to mutations in the human leptin receptor (LEPR) gene have been reported. In this review we summarize published functional and phenotypic data on mutations in the human LEPR gene causing severe early-onset obesity. Additionally, we included data on six new cases from our obesity center.

Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.

Objective: To evaluate whether early childhood body mass index (BMI) is an appropriate indicator for monogenic obesity.

Methods: A cohort of n = 21 children living in Germany or Austria with monogenic obesity due to congenital leptin deficiency (group LEP, n = 6), leptin receptor deficiency (group LEPR, n = 6) and primarily heterozygous MC4 receptor deficiency (group MC4R, n = 9) was analyzed. A control group (CTRL) was defined that consisted of n = 22 obese adolescents with no mutation in the above mentioned genes.

A Trial of Two Anesthetic Regimes for Minimally Invasive Mitral Valve Repair.

Objective: Minimally invasive mitral valve repair may be associated with prolonged cardioplegic arrest times and ischemic reperfusion injury. Intravenous (propofol) and volatile (sevoflurane) anesthesia are used routinely during cardiac surgery and are thought to provide cardioprotection; however, the individual contribution of each regimen to cardioprotection is unknown. Therefore, the authors sought to compare the cardioprotective effects of propofol and sevoflurane anesthesia in patients undergoing minimally invasive mitral valve repair.

Estimated prevalence of potentially damaging variants in the leptin gene.

Background: Mutations in the leptin gene (LEP) can alter the secretion or interaction of leptin with its receptor, leading to extreme early-onset obesity. The purpose of this work was to estimate the prevalence of heterozygous and homozygous mutations in the leptin gene with the help of the Exome Aggregation Consortium (ExAC) database ( http://exac.broadinstitute.

Differential TBXA2 receptor transcript stability is dependent on the C924T polymorphism.

Background: In order to better characterize the molecular mechanisms involved in processing mutated transcripts, we investigated the post-transcriptional role of the C924T polymorphism (rs4523) located in the 3' region of the TBXA2R gene.

Methods And Results: Experiments of dose response with Actinomycin D on MEG-01 human cell line showed a significant decrease on cell viability that was more evident on cells treated for 24h. In addition, we showed that treatments with 5-10μM, 15μM and 20μM of actinomycin D reduced cell viability by 44%, 72% and 75%, respectively, compared to the control group.

Cytokine modulation in patients with idiopathic pulmonary fibrosis undergoing treatment with steroids, immunosuppressants, and IFN-γ 1b.

Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease of unknown etiology and pathogenic mechanisms. From an etiopathogenic point of view, alveolar macrophages play a key role in accumulation of fibroblasts and deposition of collagen and extracellular matrix by releasing specific cytokines and inflammatory mediators. IPF seems to be also associated with circulating fibrocytes, which might be involved with an abnormal pulmonary vascular repair and remodeling.

Clinical significance of prophylactic central compartment neck dissection in the treatment of clinically node-negative papillary thyroid cancer patients.

Background: Lymph nodal involvement is very common in differentiated thyroid cancer, and in addition, cervical lymph node micrometastases are observed in up to 80 % of papillary thyroid cancers. During the last decades, the role of routine central lymph node dissection (RCLD) in the treatment of papillary thyroid cancer (PTC) has been an object of research, and it is now still controversial. Nevertheless, many scientific societies and referral authors have definitely stated that even if in expert hands, RCLD is not associated to higher morbidity; it should be indicated only in selected cases.

Minimally invasive approach for adrenal lesions: Systematic review of laparoscopic versus retroperitoneoscopic adrenalectomy and assessment of risk factors for complications.

In the last decades, minimally invasive transperitoneal laparoscopic adrenalectomy has become the standard of care for surgical resection of the adrenal gland tumors. Recently, however, adrenalectomy by a mininvasive retroperitoneal approach has reached increasingly popularity as alternative technique. Short hospitalization, lower postoperative pain and decrease of complications and a better cosmetic resolution are the main advantages of these innovative techniques.

Positive selection in the leucine-rich repeat domain of Gro1 genes in Solanum species.

In pathogen resistant plants, solvent-exposed residues in the leucine-rich repeat (LRR) proteins are thought to mediate resistance by recognizing plant pathogen elicitors. In potato, the gene Gro1-4 confers resistance to Globodera rostochiensis. The investigation of variability in different copies of this gene represents a good model for the verification of positive selection mechanisms.

Bedside contrast-enhanced sonography of critically ill patients.

The transfer of critically ill patients to the radiology department is, in itself, potentially dangerous, so radiologists are frequently asked to perform bedside sonographic studies in the intensive care unit, surgical or medical department, sterile area, and operating room. In these circumstances, injection of a contrast agent may give the radiologist relevant additional information, which is useful for diagnosis and for better therapeutic management of these critically ill patients. Contrast-enhanced sonography may allow detection of findings not recognizable on baseline sonography or even color Doppler imaging.

Effects of cigarette smoking on circulating leukocytes and plasma cytokines in monozygotic twins.

Background: Despite the well-documented role of cigarette smoke in the development of chronic obstructive pulmonary disease (COPD), lung cancer and cardiovascular disease, biomarkers for screening or monitoring disease progression and outcome remain elusive, particularly for COPD and lung cancer. Inflammatory cells and mediators are likely to be involved in the disease processes, but their importance is still poorly understood. The purpose of this study was to investigate early changes in immunological markers associated with smoking in healthy monozygotic twins without a detectable disease discordant for smoking, thereby minimising data variability due to genetic background.

Integrating contrast-enhanced sonography in the follow-up algorithm of hepatocellular carcinoma treated with radiofrequency ablation: single cancer center experience.

Background: Hepatocellular carcinoma (HCC) patients treated with percutaneous ablation require close follow-up for early detecting and treating tumor recurrence.

Purpose: To illustrate our single-center prospective experience on using contrast-enhanced ultrasound (CEUS) as a follow-up tool alternated with computed tomography (CT).

Material And Methods: In a 7-year period 588 patients with one to three HCCs were treated with radiofrequency ablation (alone or combined with ethanol injection).