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.     

Pathophysiology and pathogenesis of post-resuscitation myocardial stunning

The prognosis for cardiac arrest victims remains dismal, as only 17% survives to hospital discharge. Post-resuscitation myocardial stunning is the mechanical dysfunction that persists after the restoration of spontaneous circulation. Our knowledge regarding myocardial stunning has grown dramatically over the years, and several hypotheses have been proposed in order to explain its pathophysiology; however, the interrelationships among various mechanisms remain unclear. This review deals primarily with the basic aspects of the pathophysiology of post-resuscitation myocardial stunning. Given the large number of relevant studies and the fragmented information, an effort was made to summarize current knowledge in order to present a comprehensive pathophysiological mechanism. In this review, the pathophysiological disturbances occurring from the onset of cardiac arrest until the restoration of spontaneous circulation are addressed. Then, the pathophysiology of myocardial stunning during the post-resuscitation period is critically reviewed in 4 parts, the immediate, the early, the intermediate, and the recovery post-arrest phase. This article covers a huge gap in the existing literature regarding the pathophysiology of post-resuscitation period and provides a better understanding of the pathophysiology and pathogenesis of post-resuscitation myocardial stunning.     

Proximal opening wedge metatarsal osteotomy for correction of moderate to severe hallux valgus deformity using a locking plate

Purpose

Hallux valgus is a complex deformity of the first metatarsophalangeal joint, with varus angulation of the first metatarsal, valgus deviation of the great toe and lateral displacement of the sesamoids and the extensor tendons. The aim of the surgery is to achieve correction of the varus deviation of the 1st metatarsal which is considered by some as the primary intrinsic predisposing factor to hallux valgus deformity.

Methods

We retrospectively reviewed 85 patients (107 feet) who underwent an opening wedge osteotomy of the 1st metatarsal for correction of moderate to severe hallux valgus and metatarsus primus varus. A medially applied anatomic pre-contoured locking plate was used for fixation of the osteotomy.

Results

The mean IMA was decreased from 15.8 (range 12–22) degrees to 7.8 (range 0–12) degrees. The mean pre-operative HVA was 39 (range 21–52) degrees and the mean postoperative HVA was 11.8 (6–19) degrees. The pre-operative AOFAS score was 52 (SD 3.1) and the postoperative score was 85 (SD 5.2).

Conclusion

The proximal opening wedge metatarsal osteotomy is a safe, effective and reproducible technique for correction of moderate to severe hallux valgus deformity. The use of a locking plate provides enough control at the fragments, enhancing healing of osteotomy and maintenance of the correction even with a violated proximal lateral cortex.     

Prognostic impact of hs-CRP and IL-6 in patients undergoing radiofrequency catheter ablation for atrial fibrillation

Background. We investigated the possible association between antichlamydial antibodies and pulse wave analysis (PWA) parameters in a cohort of patients with coronary artery disease (CAD). Methods. The augmentation index (AI), the reflection time index (RTI) and the time to the beginning of the reflected wave (CT-1) were estimated (Sphygmocor ATCOR Medical). IgA titers?≥?40 and IgG ≥80 were considered as positive (microimmunofluorescence test). Patients also underwent coronary angiography, ultrasound carotid measurements and 24 h ambulatory blood pressure (BP) measurements. Results. No differences existed in the traditional risk factors for CAD between the seronegative and seropositive IgA/ IgG groups. IgA seropositive subjects had higher values of AI (p?<?0.01) comparing to seronegatives whilst the levels of CT-1 and RTI were lower (p?<?0.011 and p?<?0.02 respectively). No differences in AI, CT-1 and RTI values were found between IgG seropositive/ seronegatives patients. Conclusions. An association was indicated between IgA antichlamydial titers and PWA parameters in patients with CAD, supporting that the connecting link between arterial stiffness and CAD might include this microorganism.     

Giant extra gastrointestinal stromal tumor of lesser omentum obscuring the diagnosis of a choloperitoneum

INTRODUCTIONHerein we present an extremely rare case of a giant extra gastrointestinal stromal tumor (EGIST) of the lesser omentum obscuring the diagnosis of a choloperitoneum.PRESENTATION OF CASEA 79 years old female was admitted to our hospital with symptoms of vomiting and epigastric pain. Abdominal computer tomography revealed a sizable formation that was diagnosed as a tumor of the pancreas. In laparotomy, a choloperitoneum was diagnosed as the cause of patient's symptoms. A tumor adherent firmly to the lesser curvature of stomach was also discovered. Cholecystectomy and subtotal gastrectomy were performed. Histologically, the tumor was diagnosed as a EGIST of the lesser omentum. The patient did not receive any adjuvant therapy and after two years of follow up she is without any recurrence.DISCUSSIONOmental EGISTs may remain clinically silent despite the large tumor's size. It is difficult to differentiate a EGIST in the lesser omentum from a GIST of the lesser curvature of the stomach, despite the use of advanced radiological imaging techniques. Our case of a giant EGIST of lesser omentum obscuring the diagnosis of acute choloperitoneum is the only one reported in literature.CONCLUSIONEGISTs that arise from the omentum are very rare and complete surgical resection is the only effective treatment approach. Adjuvant therapy following resection of localized disease has become standard of care in high risk cases.     

Circulating progenitor cells: a comparison of patients with glioblastoma or meningioma

Blood circulating endothelial cells and circulating hematopoietic progenitor cells (CPCs) are two cell populations that are thought to play important role in angiogenesis. In the present study, we investigated the role of CPCs in patients with brain tumors. We prospectively studied 19 brain tumor patients. Ten healthy individuals were used as controls. Variables that were analyzed included age, sex, Ki-67 index, symptom duration, tumor location, tumor size and preoperative Karnofsky performance status score (KPS). CPCs were determined as CD45^dim/CD34+/CD133+ in the peripheral blood. Twelve patients had glioblastoma (GBM), 1 patient had a grade II glioma and 6 patients had meningioma. Brain tumor patients had significantly higher CPC levels compared to healthy volunteers. Patients with gliomas had significantly higher CPC levels than patients with meningiomas. In GBM patients no correlation was found between CPC levels and sex, age, Ki-67 index, tumor location, size and KPS. Patients with CPC levels lower than 1,743 cells/ml had a higher progression-free survival but the difference was not statistically significant. Glioma patients had higher CPC levels compared to patients with meningiomas. Larger studies are obviously needed to verify the role of CPC levels in patients with brain tumors.     

Circulating sclerostin and Dickkopf-1 levels in patients with nonalcoholic fatty liver disease

There is increasing evidence for bone-liver interplay. The main aim of this study was to determine serum sclerostin and Dickkopf (DKK)-1 levels in patients with nonalcoholic fatty liver disease (NAFLD) and their association with the disease severity. Patients with biopsy-proven NAFLD, 13 with nonalcoholic simple steatosis (SS) and 14 with steatohepatitis (NASH), and 20 gender-, age-, body mass index- and waist circumference-matched controls were enrolled. Serum sclerostin, DKK-1, bone turnover markers, vitamin D, insulin and standard biochemical and hematologic parameters were measured; lumbar spinal dual-energy X-ray absorptiometry was performed. We observed that there was a progressive decline in serum sclerostin levels from the controls (76.1 ± 6.8) to SS (53.5 ± 6.4) and NASH (46.0 ± 8.1 pmol/l) patients (p = 0.009); in adjusted pairwise comparisons, sclerostin was significantly higher in the controls than in NASH patients (p = 0.012). Although serum DKK-1 did not differ between groups (p = 0.135), there was a trend toward U-shaped distribution (controls 35.8 ± 2.8; SS 27.3 ± 2.9; NASH 36.8 ± 4.4 pmol/l). Higher DKK-1 levels were independently associated with NASH. Regarding specific histological lesions, DKK-1 levels were marginally lower in NAFLD patients with lower (≤33 %) than higher (>33 %) steatosis grade (27.7 ± 3.1 and 38.8 ± 4.7 pmol/l, respectively; p = 0.049). No other significant difference was observed within histological lesions. In conclusion, serum sclerostin levels were lower in NASH patients than in controls. DKK-1 levels were independently associated with NASH in NAFLD patients. The potential importance of these findings indicates a possible bone-liver interaction and warrants further investigation.