A New Frameshift Mutation of <i>PTEN</i> Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature

Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. It is the most common syndrome among the PTEN-associated hamartomatous tumor syndromes (PHTS). CS has an autosomal dominant inheritance pattern, with increased penetrance and variable expressivity, making early diagnosis difficult. Mutations in the PTEN gene (phosphatase and TENsin homolog) are involved in its pathogenesis, involving many organs and systems originating in the three embryonic layers (ectodermum, endodermum, and mesodermum). The consequence is the development of hamartomatous lesions in various organs (brain, intestines, thyroid, oropharyngeal cavity, colon, rectum, etc.). Multiple intestinal polyps are common in patients with CS, being identified in over 95% of patients undergoing colonoscopy. The authors describe the case of a patient who presented the first signs of the disease at 3 ½ years (tonsil polyp) but was diagnosed only at the age of 20 following a colonoscopy that revealed hundreds of intestinal polyps, suggesting further molecular testing. A heterozygous frameshift mutation was identified in the PTEN gene, classified as a potentially pathogenic variant (c.762del.p(Val255*)). The authors present this case to highlight the path taken by the patient from the first symptoms to the diagnosis and to emphasize the clinical aspects of this mutational variant that have still not been identified in other patients with this syndrome

Pollution through tourism and the managers’ involvement in the ecologic education of the tourists

The study regarding the tourists behavior is very important because, beside the possibility to meet new people, different cultures and to visit special places, they think they can do whatever they want when they are in vacation. This approach is wrong and has impact on the environment. From our analysis, we noticed that the positive effects on the environment are less than the negative ones and the main cause is the uncivilized behavior of the tourists. In this study, we observed that 85% of the participants are aware that, due to their behavior, the environment is polluted, and 38% admit that they threw the garbage in waters or on the ground. We consider that the tourists education is necessary in order to stop the environment pollution

Assessment of Physical and Chemical Stability of Different Magnesium Compounds in Tablets

International audienceModern lifestyle, excessive chemicalization of agricultural products, excessive processing and refining of food,cause a decrease in daily intake of magnesium, cation with an extremely important role in prevention and treatmentof many diseases. As a result, there arises the need for extra magnesium intake in the form of dietary supplements.In this study were evaluated the physical and chemical stability of magnesium-containing tablets, depending on theactive compound and the excipients used. Magnesium tablets in the form of orotate, lactate, citrate, oxide andhydroxide were taken into study and physical and chemical stability were observed over the validity period, at 6 andat 12 months after expiry date. There were no changes in physical and chemical stability during the validity periodof the studied tablets. At 6 months after the expiry date, were observed variations in chemical composition withdecrease in magnesium concentration to 98% of the declared value, only in the case of tablets containing magnesiumlactate. At 12 months, the magnesium concentration decreased in all analysed samples, with no statisticallysignificant differences (p<0.05) between the types of magnesium compounds – 95% for the orotate, 93% for thelactate, 90% for the oxide and hydroxide, respectively 85% for citrate. The results of this study indicate thetherapeutically safety for using these tablets 6 months after the expiry date

Financial Burden of Stroke Reflected in a Pilot Center for the Implementation of Thrombolysis

Stroke represents a serious illness and is extremely relevant from the public health point of view, implying important social and economic burdens. Introducing new procedures or therapies that reduce the costs both in the acute phase of the disease and in the long term becomes a priority for health systems worldwide. The present study quantifies and compares the direct costs for ischemic stroke in patients with thrombolysis treatment versus conservative treatment over a 24-month period from the initial diagnosis, in one of the 7 national pilot centres for the implementation of thrombolytic treatment. The significant reduction (p &lt; 0.001) of the hospitalization period, especially of the days in the intensive care unit (ICU) for stroke, resulted in a significant reduction (p &lt; 0.001) of the total average costs in the patients with thrombolysis, both at the first hospitalization and for the subsequent hospitalizations, during the period followed in the study. It was also found that the percentage of patients who were re-hospitalized within the first 24-months after stroke was significantly lower (p &lt; 0.001) among thrombolyzed patients. The present study demonstrates that the quick intervention in cases of stroke is an efficient policy regarding costs, of Romanian Public Health System, Romania being the country with the highest rates of new strokes and deaths due to stroke in Europe

ECG and Biomarker Profile in Patients with Acute Heart Failure: A Pilot Study

Background: Biomarkers, electrocardiogram (ECG) and Holter ECG are basic, accessible and feasible cardiac investigations. The combination of their results may lead to a more complex predictive model that may improve the clinical approach in acute heart failure (AHF). The main objective was to investigate which ECG parameters are correlated with the usual cardiac biomarkers (prohormone N-terminal proBNP, high-sensitive cardiac troponin I) in patients with acute heart failure, in a population from Romania. The relationship between certain ECG parameters and cardiac biomarkers may support future research on their combined prognostic value. Methods: In this prospective case-control study were included 49 patients with acute heart failure and 31 participants in the control group. For all patients we measured levels of prohormone N-terminal proBNP (NT-proBNP), high-sensitive cardiac troponin I (hs-cTnI) and MB isoenzyme of creatine phosphokinase (CK-MB) and evaluated the 12-lead ECG and 24 h Holter monitoring. Complete clinical and paraclinical evaluation was performed. Results: NT-proBNP level was significantly higher in patients with AHF (p p = 0.027), pathological Q wave (p = 0.029), complex premature ventricular contractions (PVCs) (p = 0.034) and ventricular tachycardia (p = 0.048). Hs-cTnI and CK-MB were correlated with ST-segment modification (p = 0.038; p = 0.018) and hs-cTnI alone with complex PVCs (p = 0.031). Conclusions: The statistical relationships found between cardiac biomarkers and ECG patterns support the added value of ECG in the diagnosis of AHF. We emphasize the importance of proper ECG analysis of more subtle parameters that can easily be missed. As a non-invasive technique, ECG can be used in the outpatient setting as a warning signal, announcing the acute decompensation of HF. In addition, the information provided by the ECG complements the biomarker results, supporting the diagnosis of AHF in cases of dyspnea of uncertain etiology. Further studies are needed to confirm long-term prognosis in a multi-marker approach