Search

In the present article, we describe the case of a 21-year-old male presenting to the Emergency Department following a syncopal episode. Physical examination revealed a distinctive facial appearance in the context of an overgrowth syndrome. Also, an ajmaline test was performed because of the evidence of an incomplete right bundle branch block with ST-T segment elevation in the right precordial derivations, revealing a type-1 Brugada electrocardiographic pattern. Considering the high cardiovascular risk phenotype, the patient underwent subcutaneous cardiac defibrillator implantation. The subsequent comprehensive genomic testing analysis led to the diagnosis of a variant of an uncertain significance of the nuclear receptor binding SET domain protein 1 (NSD1) gene and a heterozygous mutation of the calsequestrin 2 (CASQ2) gene. NSD1 gene alterations are usually responsible for the Sotos syndrome, characterized by distinctive facial appearance, learning disability, and overgrowth, in addition to cardiac anomalies, ranging from single self-limiting alterations to more severe, complex cardiac abnormalities. On the contrary, a compound heterozygous or homozygous alteration of the CASQ2 gene is usually associated with catecholaminergic polymorphic ventricular tachycardia; however, the significance of a merely heterozygous alteration in CASQ2 gene, as in the present case report, is not yet clear. In conclusion, to the best of our knowledge, this is the first description of the coexisting presence of Brugada and overgrowth syndromes in a single patient.

A 55-year-old male affected by heart failure with reduced ejection fraction and a history of a transient cerebrovascular accident was accepted to the Cardiology Department for worsening dyspnoea. A cardiopulmonary exercise testing was performed after therapy optimization to further evaluate exercise intolerance. A rapid increase in VE/VCO2 slope, PETO2, and RER, with a concomitant decrease in PETCO2 and SpO2, were observed during the test. These findings indicate exercise-induced pulmonary hypertension leading to a right-to-left shunt. Subsequent echocardiography with a bubble test unveiled the presence of an unknown patent foramen ovale. It is, therefore, necessary to exclude a right-to-left shunt by cardiopulmonary exercise testing, particularly in patients predisposed to develop pulmonary hypertension during exercise. Indeed, this eventuality might potentially provoke severe cardiovascular embolisms. However, the patent foramen ovale closure in patients with heart failure with reduced ejection fraction is still debated because of its potential hemodynamic worsening.

Adverse drug reactions represent a significant public health problem. A share of no small adverse reaction is particularly serious and can even lead to patient’s death. Furthermore, hepatitis induced by serious drug reactions is a rare event but potentially fatal. Finally, we know that epidemiological studies have highlighted male gender as an independent predictor of fibrosis progression towards cirrhosis in hepatitis B and C-virus, as well as non-alcoholic steatohepatitis. The importance of considering the differences between the male and female sex in clinical decision-making is crucial. The physiopathology of liver disease is different in the two genres, but these differences are not yet fully known and several potential mechanisms have been identified.

Celiac disease (CD) is a complex polygenic disorder, which involves genetic factors human leukocyte complex (HLA) and non-HLA genes, environmental factors, innate and adoptive immunity, and a robust chronic T-mediated autoimmune component. The main goal of the present monograph is to define a methodological approach for the disease, characterized by frequent late diagnosis, in order for the physician to become aware of the disease management, the diversity of the clinical presentation itself and in different patients. A unique attention is payed to the specific diagnostic tests to define a correct and accurate application of them, and in addition, to disease follow-up and possible complications. Moreover, a dedicated space is assigned to refractory CD, to potential CD and non-celiac gluten sensitivity. Legislative aspects of the celiac disease in Italy are addressed, too. The celiac disease guidelines and their evaluation by means of Appraisal of Guidelines, Research and Evaluation II instrument allow us to classify the different recommendations and to apply them according to the stakeholders’ involvement, pertinence, methodological accuracy, clarity and publishing independence. Finally, the most current scientific evidence is taken into account to create a complete updated monograph.

Pregnancy is a time of great maternal physiological and metabolic changes and affects biochemical and hematological parameters used in the assessment of liver disease. Due to the increased physiological and metabolic stress of pregnancy, liver disorders that have previously been subclinical may become symptomatic such as cholestatic diseases. The viral hepatitis constitutes a huge disease burden worldwide and the pregnant state confers particular concerns for the mother and her baby. In particular, hepatitis E has a predilection for the pregnant population and confers a particularly poor prognosis. In addition, certain pregnancy specific disorders such as elevated liver enzymes, low platelets syndrome, acute fatty liver of pregnancy, and obstetric cholestasis-affect primarily the liver. It is important to know how to diagnose and manage these conditions and distinguish them from non-pregnancy specific conditions as this will change the timing and management of affected women and their babies, some of whom can be seriously ill.

A multidisciplinary group of 7 experts developed this update and expansion of the recommendations on the management of acute non-variceal upper gastrointestinal hemorrage (NVUGIH) from guidelines published from 2013. The Appraisal of Guidelines for Research and Evaluation (AGREE) process and independent ethics protocols were used. Sources of data included original and published systematic reviews. Recommendations emphasize early risk stratification, by using validated prognostic scales, and early endoscopy (within 24 h). Endoscopic hemostasis remains indicated for high-risk lesions, whereas data support attempts to dislodge clots with hemostatic, pharmacologic, or combination treatment of the underlying stigmata. Clips or thermocoagulation, alone or with epinephrine injection, are effective methods. Second-look endoscopy may be useful in selected highrisk patients, but is not routinely recommended. Intravenous high-dose proton pump inhibitors (PPI) therapy after successful endoscopic hemostasis decreases both rebleeding and mortality in patients with high-risk stigmata. Although selected patients can be discharged promptly after endoscopy, high-risk patients should be hospitalized for at least 72 h after endoscopic hemostasis. For patients with UGIH who require a nonsteroidal anti-inflammatory drug, a PPI is preferred to reduce the rebleeding. Patients with NVUGIH needing secondary cardiovascular prophylaxis should start receiving acetylsalicylic acid again as soon as cardiovascular risks outweigh gastrointestinal risks (usually within 7 days).

Non-small cell lung cancer (NSCLC) is the leading cause of cancer-related dead worldwide and accounts for over 85% of all lung cancers. Furthermore, the majority of patients with NSCLC present with advanced, metastatic disease at the time of diagnosis. For most patients with non-small cell lung cancer, current treatments do not cure the cancer. Therefore, there is a great need for development of more effective therapies. The epidermal growth factor receptor tyrosine kinase inhibitors (EGFR TKIs) like erlotinib and gefitinib have been recognized as an important molecular target in cancer therapy and they are approved for the treatment of refractory advanced NSCLC patients. EGFR TKIs are generally well tolerated. The two most common toxicities include dermatologic and gastrointestinal side effects. Cases of gastrointestinal perforation, some of which were fatal, have also been reported in patients receiving erlotinib. Patients at increased risk include those taking concomitant anti-angiogenic agents, corticosteroids, non-steroidal anti-inflammatory drugs, and/or taxane-based chemotherapy, or who have prior history of peptic ulceration or diverticular disease.

Background and aims. Hospitalisations for chronic obstructive pulmonary disease (COPD) exacerbations are major events in the natural history of the disease in terms of survival, quality of life and risk of further episodes of exacerbation. The aims of study were to evaluate: 1. adherence to recommended standards of care; and 2. clinical factors influencing major outcomes during hospitalisation for an episode of COPD exacerbation and within a 6-month follow-up. Methods. An observational, prospective study was conducted in 68 centres. Assessment of standards of care included diagnostic procedures (such as pulmonary function tests and microbiology) and management options (such as drug therapies, vaccinations and rehabilitation). Outcome measures relevant to the hospitalisation were: survival, need for mechanical ventilation, and length of stay (LOS). Outcomes at 6-months were: survival, exacerbations and hospitalisations for an exacerbation. Multivariate logistic regression was applied to evaluate the relation between clinical factors and outcomes. Results. 931 patients were enrolled. Only 556 patients (59.7%) were diagnosed COPD and stratified for severity with the support of spirometry (FEV1/VC ≤0.7) and were considered for outcome analysis. Among treatments, pulmonary rehabilitation and anti-smoking counselling were applied infrequently (14.5 and 8.1% of patients, respectively). Within six months 63 COPD patients (17.7%) had at least one episode of exacerbation prompting a further hospitalisation and 19 died (5.3%). Predictor of mortality was the co-morbidity Charlson index (odds ratio, OR 10.3, p=0.03 CI:1.25-84.96). A further hospitalisation was predicted by hospitalisation for an exacerbation in the previous 12 months (OR 3.59, p=0.003 CI:1.54-8.39). Conclusions. Standards of care were far lower than recommended, in particular 40% of patients were labelled as COPD without spirometry. COPD patients with a second hospitalisation in 12 months for an exacerbation had about 3 times the risk of suffering a new episode and hospitalisation in the following six months.

Problematic bird species are interesting for their remarkable implications mostly in the economic field, and many efforts are made for their management by public administrations. The present study investigated the densities of Hooded Crow, Corvus corone cornix, and Magpie, Pica pica, in eight environments which form the main environmental typologies of the central southern part of the province of Cosenza. The study was conducted counting the nests along linear transects in wintertime. The value of total densities found for both corvid species are, on average, low if compared with the values found in North and Central Italy in the most recent years.