Phenotype and genotype frequency of β-thalassemia and sickle cell disease carriers in Halkidiki, Northern Greece

A decade of screening (years 2000 to 2010) for hemoglobinopathies in 3,931 patients was performed at the General Hospital of Poligiros, Halkidiki, Northern Greece. Among the patients examined, 10.8% heterozygotes for β-thalassemia (β-thal) were found, as well as 4.1% with sickle cell disease and 1.2% with double β-thal/Hb S [β6(A3)Glu→Val] heterozygosity. Iron deficiency was observed in 23.4%. The geographical distribution in the region revealed a substantial incidence of hemoglobinopathies even in mountainous areas. This pattern did not follow the typical distribution according to the malaria hypothesis, as incidence did not dovetail with swamp locations recorded in the past. The HBB gene mutations for 85 patients were also analyzed. Most prevalent in Halkidiki, Northern Greece, was the codon 39 (C>T) mutation (27.1%) followed by the IVS-I-110 (G>A) mutation (22.4%); this was in direct contrast to the current distribution of the same mutations seen in the rest of Greece (Greek National Genetic Database, GNGD). This frequency inversion was statistically significant, with the difference from the GNGD being 20.6% for the IVS-I-110 mutation (p <0.0005) and 7.6% for the codon 39 mutation (p = 0.0238). The history of Halkidiki, denoting a clear example of geographical isolation from the rest of the country, may possibly account for a potentially diverse genetical identity of the disease in this region.     

Melatonin promotes adventitious root regeneration in in vitro shoot tip explants of the commercial sweet cherry rootstocks CAB-6P (Prunus cerasus L.), Gisela 6 (P. cerasus × P. canescens), and MxM 60 (P. avium × P. mahaleb)

Abstract: The objectives of this study were to test the effects of melatonin (N‐acetyl‐5‐methoxytryptamine), a natural compound of edible plants on the rooting of certain commercial sweet cherry rootstocks. Shoot tip explants from previous in vitro cultures of the cherry rootstocks CAB‐6P (Prunus cerasus L.), Gisela 6 (P. cerasus × P. canescens), and M × M 60 (P. avium × P. mahaleb) were included in the experiment. The effect of indole‐3‐acetic acid (IAA) and indole‐3‐butyric acid (IBA) alone or in combination with melatonin was tested concerning their rooting potential. Seven concentrations of melatonin (0, 0.05, 0.1, 0.5, 1, 5, and 10 μm ) alone or in combination with 5.71 μm of IAA or 4.92 μm of IBA were tested. For each rootstock, 21 treatments were included. The explants were grown in glass tubes containing 10 mL of substrate. The parameters measured include rooting percentage, number of roots per rooted explant, root length, and callus formation. The data presented in this study show that melatonin has a rooting promoting effect at a low concentration but a growth inhibitory effect at high concentrations. In the absence of auxin, 1 μm melatonin had auxinic response concerning the number and length of roots, but 10 μm melatonin was inhibitory to rooting in all the tested rootstocks. The final conclusion of this experiment is that exogenously applied melatonin acted as a rooting promoter and its action was similar to that of IAA.     

Verbal memory and sentence comprehension in aphasia: A case series

ABSTRACT

This case series explores the relationship between verbal memory capacity and sentence comprehension in four patients with aphasia. Two sentence comprehension tasks showed that two patients, P1 and P2, had impaired syntactic comprehension, whereas P3 and P4’s sentence comprehension was intact. The memory assessment tasks showed that P1 and P2 had severely impaired short-term memory, whereas P3 and P4 performed within the normal range in the short-term memory tasks. This finding suggests an association between short-term memory deficit and sentence comprehension difficulties. P1 and P3 exhibited impaired comparable working memory deficits, suggesting a dissociation between working memory and sentence comprehension.     

Double superior vena cava: presentation of two cases and review of the literature

Introduction: Various anomalies in the development of the great thoracic veins of the embryo can be incidentally discovered in the normal adult. Duplication of superior vena cava (SVC) is a rare abnormality, but the most common thoracic venous congenital anomaly.

Case reports-methods: We present two cases in the intensive care unit of our hospital, of asymptomatic patients who underwent an uneventful central line placement in the left subclavian vein. The track of the catheter, as shown in the X-ray, was misplaced to the left of the aorta and further investigation with computed tomography angiography confirmed a persistent left SVC. In both cases the vein drained into the coronary sinus and then to the right atrium. In the second case the echocardiography revealed a dilated coronary sinus.

Conclusions: Double SVC can be fortuitously discovered during catheter insertion, thoracic or cardiac imaging and surgery. In most cases it drains into the right atrium, through the coronary sinus. This entity is significant to the physician because of its importance in differential diagnosis as a cause of a widened mediastinum, as well as any difficulty that can occur in the placement of a central venous catheter or a pace maker.     

The association of physical activity with novel adipokines in patients with type 2 diabetes

BackgroundAdipose-tissue derivatives, known as adipokines, have been involved in the inflammatory-mediated metabolic and cardiovascular disorders of type 2 diabetes mellitus (T2DM). This study examined the association between novel adipokines and self-reported physical activity, a potential anti-inflammatory mediator.MethodsWe enrolled 247 men and women with T2DM, free from overt cardiovascular disease. Based on a physical activity questionnaire, patients were classified into groups: A) sedentary, who did not report any physical activity or reported light activities < 2 h/week and B) active, referring to low or moderate-intensity physical activities > 2 h/week. Among them, 88 patients were randomly selected to perform a cardiorespiratory ergocycle testing. Clinical parameters, glycemic and lipid profiles, HOMA-IR, and serum levels of visfatin, apelin, vaspin, ghrelin and adiponectin were assessed.ResultsWith the exception of fat-mass, our groups did not differ in anthropometric parameters and pharmaceutical regimen. Active patients showed ameliorated glucose regulation, HOMA-IR, hsCRP and exercise capacity compared to sedentary counterparts (p < 0.01). Active rather than sedentary patients showed lower visfatin (10.16 ± 5.53 ng/ml vs 14.77 ± 8.48 ng/ml, p = 0.013), higher apelin (1.39 ± 0.65 ng/ml vs 1.04 ± 0.35 ng/ml, p = 0.018) and adiponectin (11.82 ± 3.06 μg/ml vs 7.81 ± 2.11 μg/ml, p = 0.033) levels. There were non-significant differences in the rest of parameters between groups. After adjusting for age, sex and BMI, physical activity along with hsCRP and ghrelin remained independent determinants of visfatin levels (R² = 0.328, p = 0.032), while physical activity was independently associated with apelin (R² = 0.221, p = 0.022).ConclusionsSelf-controlled physical activity of, even, moderate intensity ameliorates adipokines, such as visfatin, apelin and adiponectin, in patients with T2DM. Prospective interventional studies will confirm our results.The ClinicalTrials.gov identifier is: NCT00306176.     

A national registry of haemoglobinopathies in Greece: deducted demographics, trends in mortality and affected births

Haemoglobinopathies are the most common hereditary disorders in Greece. Although there is a successful national prevention program, established 35 years ago, there is lack of an official registry and collection of epidemiological data for haemoglobinopathies. This paper reports the results of the first National Registry for Haemoglobinopathies in Greece (NRHG), recently organized by the Greek Society of Haematology. NRHG records all patients affected by thalassaemia major (TM), thalassaemia intermedia (TI), "H" Haemoglobinopathy (HH) and sickle cell disease (SCD). Moreover, data about the annual rate of new affected births along with deaths, between 2000 and 2010, are reported. A total of 4,506 patients are registered all over the country while the number of affected newborns was significantly decreased during the last 3 years. Main causes for still having affected births are: (1) lack of medical care due to financial reasons or low educational level; (2) unawareness of time limitations for prenatal diagnosis (PD); due either to obstetricians' malpractice or to delayed demand of medical care of couples at risk; and (3) religious, social or bioethical reasons. Cardiac and liver disorders consist main causes for deaths while life expectancy of patients lengthened after 2005 (p < 0.01). The NRHG of patients affected by haemoglobinopathies in Greece provides useful data about the haemoglobinopathies in the Greek population and confirms the efficacy of the National Thalassaemia Prevention Program on impressively decreasing the incidence of TM and sickle cell syndromes.     

The role of microRNAs in liver cancer

Hepatocellular carcinoma and cholangiocarcinoma constitute the majority of primary malignant tumors located in the liver, with hepatocellular carcinoma accounting for approximately 80% of these tumors and cholangiocarcinoma representing the remaining 20%. Both are aggressive malignancies, heterogeneous in terms of biological activities and clinical behavior, with dismal outcomes and an increasing incidence worldwide. Radical surgical resection remains the gold standard to date, as adjuvant therapeutic modalities have failed to show a consistent and adequate curative response. However, radical surgical resection is not feasible in most of the patients with such tumors, as tumor size or functional status of the parenchyma does not permit extended hepatic resection. In addition, patients who undergo curative resection often have a high rate of relapse. Multimodal therapeutic approaches, such as the combination of invasive methods (surgical resection, radiofrequency ablation, and two-step or three-step procedures with intermittent portal vein embolization) with interferon-α, systemic chemotherapy, or transarterial catheter embolization, may prolong survival in some patients, but have, however, failed to demonstrate satisfactory results. Therefore, an obvious need emerges for the discovery of new biomarkers to understand the events leading to hepatocarcinogenesis, to relate different phenotypes with differences in clinical behavior and prognosis, and, if possible, to predict response rates to adjuvant therapeutic modalities or, furthermore, to establish novel mechanism-based treatments for hepatic tumors.