Prevalence of familial hypercholesterolemia in Attica region, Greece

Background: Dyslipidemias are one of the major modifiable risk factors for cardiovascular disease. Familial hypercholesterolemia (FH) is the most common genetic metabolic disorder; it is estimated that around 14-34 million people worldwide have FH but only 25% of FH patients have been diagnosed. Aim: The aim of the present study was to explore the prevalence of FH in Attica region, Greece.Methods: Attica region was divided into 8 regional units. A predesigned questionnaire was used to collect demographic and clinical data. Data analysis was performed by using the Statistical Package for the Social Sciences (SPSS), ver. 20.Results: The studied sample consisted of 1578 Greek inhabitants of Attica region. The majority of the sample was women (59.9%). The mean age of the studied participants was 47.1 (±14.9) years. According to Simon Broome criteria, the probability of an FH diagnosis as unlikely is determined in 98.7% of the studied sample, probable in 0.8% of the participants or definite in 0.5% of the participants, based on this data, the prevalence of FH in Attica region, Greece is 1:200. Qualitative factors found to be associated with the onset of the disease were medication (p-value = 0.001) and hypolipidemic therapy (p-value = 0.001). The quantitative factors found to be associated with disease onset were body mass index (p-value = 0.044), and systolic (p-value = 0.001) and diastolic (p-value = 0.007) pressure.Conclusions: Based on our data, the prevalence of FH in Attica region, Greece is 1:200. Early identification of contributing factors in FH development and proper treatment is vital and reduce the risk of premature and severe atherosclerotic disease

Primary choriocarcinoma of the renal pelvis presenting as intracerebral hemorrhage: a case report and review of the literature

<p>Abstract</p> <p>Introduction</p> <p>A choriocarcinoma is a malignant neoplasm normally arising in the gestational trophoblast, gonads and, less frequently, the retroperitoneum, mediastinum and pineal gland. Primary choriocarcinomas of the renal pelvis are extremely rare.</p> <p>Case presentation</p> <p>We report a case of primary choriocarcinoma of the renal pelvis in a 38-year-old Greek woman of reproductive age, presenting with a sudden development of intracerebral hemorrhage due to metastatic lesions. The diagnosis was established with a renal biopsy, along with an elevated serum level of beta-human chorionic gonadotropin. An extensive diagnostic work up confirmed the origin of the choriocarcinoma to be the renal pelvis.</p> <p>Conclusion</p> <p>Extragonadal choriocarcinomas are rare neoplasms that require extensive laboratory and imaging studies to exclude a gonadal origin. Moreover, this is the first case of severe intracerebral hemorrhage as the initial presentation of primary choriocarcinoma of the renal pelvis. Nonetheless, choriocarcinomas should be considered in the differential diagnosis of women of reproductive age.</p

PULMONARY FUNCTION IN PARKINSON'S DISEASE

ΜΕΛΕΤΗΘΗΚΕ Η ΑΝΑΠΝΕΥΣΤΙΚΗ ΛΕΙΤΟΥΡΓΙΑ ΣΕ 23 ΑΣΘΕΝΕΙΣ ΜΕ ΙΔΙΟΠΑΘΗ ΝΟΣΟ ΤΟΥ PARKINSON, ΒΑΡΥΤΗΤΟΣ ΙΙ ΕΩΣ IV ΤΗΣ ΚΛΙΜΑΚΑΣ HOEN-YHAR. Ο ΕΛΕΓΧΟΣ ΕΓΙΝΕ ΜΕ ΤΗ ΜΕΛΕΤΗ ΤΩΝ ΠΑΡΑΜΕΤΡΩΝ ΤΟΥ ΔΥΝΑΜΙΚΟΥ ΕΚΠΝΕΥΣΤΙΚΟΥ ΣΠΙΡΟΓΡΑΦΗΜΑΤΟΣ, ΤΗΣ ΚΑΜΠΥΛΗΣ ΡΟΗΣ-ΟΓΚΟΥ, ΤΗΝ ΚΑΤΑΓΡΑΦΗ ΤΩΝ ΠΝΕΥΜΟΝΙΚΩΝ ΟΓΚΩΝ, ΤΩΝ ΑΝΤΙΣΤΑΣΕΩΝ ΤΩΝ ΑΕΡΑΓΩΓΩΝ,ΤΗΣ ΔΙΑΧΥΤΙΚΗΣ ΙΚΑΝΟΤΗΤΟΣ ΚΑΙ ΤΩΝ ΣΤΑΤΙΚΩΝ ΠΙΕΣΕΩΝ. ΑΠΟ Τ'ΑΠΟΤΕΛΕΣΜΑΤΑ ΜΑΣ ΣΥΜΠΕΡΑΙΝΟΥΜΕ ΟΤΙ ΟΙ ΑΣΘΕΝΕΙΣ ΑΥΤΟΙ ΠΑΣΧΟΥΝ ΑΠΟ ΕΝΑ ΥΠΟΚΛΙΝΙΚΟ ΠΕΡΙΟΡΙΣΤΙΚΟ ΣΥΝΔΡΟΜΟ ΥΠΟΔΥΝΑΜΙΚΟΥ ΤΥΠΟΥ ΛΟΓΩ ΤΗΣ ΠΡΟΣΒΟΛΗΣ ΚΑΙ ΤΩΝ ΑΝΑΠΝΕΥΣΤΙΚΩΝ ΜΥΩΝ ΑΠΟ ΤΗΝ ΠΑΡΚΙΝΣΟΝΙΚΗ ΑΚΙΝΗΣΙΑ ΚΑΙ ΒΡΑΔΥΚΙΝΗΣΙΑ

Expiratory flow-limitation in mechanically ventilated patients: A risk for ventilator-induced lung injury?

Expiratory flow limitation (EFL), that is the inability of expiratory flow to increase in spite of an increase of the driving pressure, is a common and unrecognized occurrence during mechanical ventilation in a variety of intensive care unit conditions. Recent evidence suggests that the presence of EFL is associated with an increase in mortality, at least in acute respiratory distress syndrome (ARDS) patients, and in pulmonary complications in patients undergoing surgery. EFL is a major cause of intrinsic positive end-expiratory pressure (PEEPi), which in ARDS patients is heterogeneously distributed, with a consequent increase of ventilation/perfusion mismatch and reduction of arterial oxygenation. Airway collapse is frequently concomitant to the presence of EFL. When airways close and reopen during tidal ventilation, abnormally high stresses are generated that can damage the bronchiolar epithelium and uncouple small airways from the alveolar septa, possibly generating the small airways abnormalities detected at autopsy in ARDS. Finally, the high stresses and airway distortion generated downstream the choke points may contribute to parenchymal injury, but this possibility is still unproven. PEEP application can abolish EFL, decrease PEEPi heterogeneity, and limit recruitment/derecruitment. Whether increasing PEEP up to EFL disappearance is a useful criterion for PEEP titration can only be determined by future studies

Inflammation and Immune Response in COPD: Where Do We Stand?

Increasing evidence indicates that chronic inflammatory and immune responses play key roles in the development and progression of COPD. Recent data provide evidence for a role in the NLRP3 inflammasome in the airway inflammation observed in COPD. Cigarette smoke activates innate immune cells by triggering pattern recognition receptors (PRRs) to release “danger signal”. These signals act as ligands to Toll-like receptors (TLRs), triggering the production of cytokines and inducing innate inflammation. In smokers who develop COPD there appears to be a specific pattern of inflammation in the airways and parenchyma as a result of both innate and adaptive immune responses, with the predominance of CD8+ and CD4+ cells, and in the more severe disease, with the presence of lymphoid follicles containing B lymphocytes and T cells. Furthermore, viral and bacterial infections interfere with the chronic inflammation seen in stable COPD and exacerbations via pathogen-associated molecular patterns (PAMPs). Finally, autoimmunity is another novel aspect that may play a critical role in the pathogenesis of COPD. This review is un update of the currently discussed roles of inflammatory and immune responses in the pathogenesis of COPD

Daily Physical Activity in Asthma and the Effect of Mepolizumab Therapy

For the various asthma-specific beneficial effects of physical activity, daily physical activity (DPA) and the potential of asthma therapies on DPA require better characterization. Hence, we aimed to determine (a) the DPA of asthma patients, and (b) the effect of add-on mepolizumab on the DPA of severe asthma patients. Methods: Adult outpatients with mild-to-moderate or severe asthma had accelerometer assessment of DPA. Severe asthma patients who were commenced on mepolizumab had their DPA reassessed after 12 months. Results: For the total cohort (n = 36), daily step count, time in moderate-to-vigorous physical activity (MVPA), MVPA volume and Movement Intensity (MI) were 7806 &plusmn; 3823 steps, 123 (interquartile range, 63) min, 657 &plusmn; 255 MET&middot;min and 1.96 (0.45) m/s2, respectively. All patients met at least one recommendation for DPA but less than half met recommendations for vigorous DPA. Patients on mepolizumab therapy increased daily step count (646 steps; 9%), time in MVPA (20 min; 21%), MVPA volume (87 MET&middot;min; 17%) and MI (0.11 m/s2; 6%) for the same amount of moving time; lung function, asthma control and health-related quality of life also improved. Conclusions: Analysis of the first national data on DPA in asthma and novel comparison against current applicable guidelines and identified beneficial thresholds showed borderline levels of DPA with room for improvement especially for severe asthma patients. In a non-sedentary cohort of severe asthma patients, mepolizumab conferred significant and meaningful improvements in DPA

Plasma membrane disruptions with different modes of injurious mechanical ventilation in normal rat lungs

Objectives: Plasma membrane disruptions are caused by excessive mechanical stress and thought to be involved in inflammatory mediator upregulation. Presently, plasma membrane disruption formation has been studied only during mechanical ventilation with large tidal volumes and limitedly to subpleural alveoli. No information is available concerning the distribution of plasma membrane disruptions within the lung or the development of plasma membrane disruptions during another modality of injurious mechanical ventilation, i.e., mechanical ventilation with eupneic tidal volume (7 mL.kg(-1)) at low end-expiratory lung volume. The aim of this study is to assess whether 1) mechanical ventilation with eupneic tidal volume at low end-expiratory lung volume causes plasma membrane disruptions; and 2) the distribution of plasma membrane disruptions differs from that of mechanical ventilation with large tidal volume at normal end-expiratory lung volume. Design: Experimental animal model. Subjects: Sprague-Dawley rats. Interventions: Plasma membrane disruptions have been detected as red spots in gelatin-included slices of rat lungs stained with ethidium homodimer-1 shortly after anesthesia (control) after prolonged mechanical ventilation with eupneic tidal volume at low end-expiratory lung volume followed or not by the restoration of physiological end-expiratory lung volume and after prolonged mechanical ventilation with large tidal volumes and normal end-expiratory lung volume. Measurements and Main Results: Plasma membrane disruptions increased during mechanical ventilation at low end-expiratory lung volume, mainly at the bronchiolar level. Resealing of most plasma membrane disruptions occurred on restoration of normal end-expiratory lung volume. Mechanical ventilation with large tidal volume caused the appearance of plasma membrane disruptions, both bronchiolar and parenchymal, the latter to a much greater extent than with mechanical ventilation at low end-expiratory lung volume. The increase of plasma membrane disruptions correlated with the concomitant increase of airway resistance with both modes of mechanical ventilation. Conclusions: Amount and distribution of plasma membrane disruptions between small airways and lung parenchyma depends on the type of injurious mechanical ventilation. This could be relevant to the release of inflammatory mediators. (Crit Care Med 2012; 40:869-875

Critically ill cancer patient in intensive care unit: Issues that arise

Advances in the management of malignancies and organ failures have led to substantial increases in survival as well as in the number of cancer patients requiring intensive care unit (ICU) admission. Although effectiveness of ICU in this group remains controversial, the heterogeneity of its population in terms of the nature and curability of their disease and the severity of critical illness and underlying conditions may explain the plethora of issues arising when considering cancer patients for ICU admission, especially from the view of limited resources and ICU beds. The most frequent reasons leading a cancer patient to ICU are postoperative, respiratory failure, infection, and sepsis. Although reasons of admission, nature and number of organ failures, type of malignancy, and therapies that have preceded ICU admission may affect outcome, reliable scoring systems or survival predictors are missing. Literature suggests that organ dysfunction should be managed at its onset, whereas aggressive ICU management should be reappraised after a few days of full support. A multidisciplinary treating team of physicians should aid in changing the goals from restorative to palliative care when there appears to be no possible benefit from any treatment. End-of life-decisions and code status should be made by consensus, based on patients’ autonomy and dignity. Further interventional multicenter studies are required to assess post-ICU burden, long-term medical outcomes, and quality of life in this cohort of patients. (C) 2014 Elsevier Inc. All rights reserved

Acid-Base Disturbances in Patients with Asthma: A Literature Review and Comments on Their Pathophysiology

Asthma is a common illness throughout the world that affects the respiratory system function, i.e., a system whose operational adequacy determines the respiratory gases exchange. It is therefore expected that acute severe asthma will be associated with respiratory acid-base disorders. In addition, the resulting hypoxemia along with the circulatory compromise due to heart&#8722;lung interactions can reduce tissue oxygenation, with a particular impact on respiratory muscles that have increased energy needs due to the increased workload. Thus, anaerobic metabolism may ensue, leading to lactic acidosis. Additionally, chronic hypocapnia in asthma can cause a compensatory drop in plasma bicarbonate concentration, resulting in non-anion gap acidosis. Indeed, studies have shown that in acute severe asthma, metabolic acid-base disorders may occur, i.e., high anion gap or non-anion gap metabolic acidosis. This review briefly presents studies that have investigated acid-base disorders in asthma, with comments on their underlying pathophysiology