Vacuum-assisted thrombectomy (VAT) is a mechanical suction device that can be deployed to aspirate thrombi in the heart and vascular system. Successful percutaneous aspiration of iliocaval, right heart, and pulmonary arterial thrombi have been reported, in addition to the debulking of intravascular and intracardiac masses and vegetations. VAT is indicated for patients who are poor surgical candidates and/or have a contraindication to thrombolysis. This review discusses the mechanism, current results, potential clinical indications, and limitations of VAT for iliocaval and intracardiac mass removal.

Penetrating chest trauma can be used as an indicator of violence in the country. We aimed to look at the changes in its incidence and management at a major trauma centre in the country. We also wanted to look at any effect of prehospital time on surgical intervention and outcome of the victim. In this retrospective descriptive study, we observed the presentation and management of 191 penetrating chest injury patients at a level II trauma hospital in Pakistan in the last 20 years. The study sample was divided into two groups: Group 1, 1988-1998 and Group 2, 1999-2009. No significant change in incidence of trauma was observed between the two groups. The delay in the time between event and arrival showed an increase in the number of surgical procedures performed. Also the number of thoracotomies performed went up significantly in the second decade from 5.7 to 16.5% with a P<0.05. Six (3.1%) mortality cases were observed in 20 years. It was seen that the greater the prehospital time, the greater the chances of surgery. Also seen was the increase in mortality as critical cases could make it to the hospital alive in recent times due to improved transportation services.

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Background The association between coronary artery disease (CAD) and diabetes mellitus (DM) is strong but the physiologic mechanisms responsible for this association remain unclear. Patients with DM exhibit high circulating levels of glycated proteins and lipoproteins called advanced glycation end products (AGEs) which have been implicated in the development of oxidative damage to vascular endothelium. We examined the relationships between the presence and extent of CAD and AGEs in patients undergoing elective coronary artery catheterization in an urban teaching hospital. Methods Patients with possible CAD (n = 364) were recruited prior to elective cardiac catheterization (52% male, 48% diabetic). Regression and correlation analyses were used to examine the relationship between serum AGE concentrations, soluble AGE receptor (sRAGE) concentration, HbA 1c , LDL and the presence of obstructive CAD along with the burden of CAD measured by SYNTAX and SYNTAX II scores. Results AGE and sRAGE levels did not significantly correlate with any of the studied coronary artery disease parameters. HbA 1c showed positive correlation with both SYNTAX and SYNTAX II scores in patients with and without diabetes. Conclusion In this cross-sectional study of patients with possible CAD, serum AGEs and sRAGE concentrations did not correlate with SYNTAX or SYNTAX II scores regardless of diabetic status. HbA1C correlated positively with the SYNTAX and SYNTAX II scores in both diabetic and non-diabetic populations.

Acromegaly is a condition defined by excess growth hormone (GH). The clinical features of acromegaly including overgrowth of many tissues including cartilage, bone, skin and visceral organs. It often times presents with coarsening of facial features and increased hat or ring size. Cardiovascular disease including hypertension with left ventricular hypertrophy and metabolic deficiencies including insulin resistance are also commonly seen as a result of the GH excess. The most common cause of acromegaly has been found to be GH secreting pituitary adenomas. MRI is generally sufficient to identify these lesions, but rarely a patient with symptoms of acromegaly will be found to have empty sella syndrome. Case: A 37 year old male, with a PMH of uncontrolled HTN presented to the emergency department after his wife found him on the floor, unconscious, foaming at the mouth, and shaking. He had an episode of urinary incontinence and was postictal for 20-30 minutes after the episode. In ED, he was hypertensive at 246/162, CT head showed right frontal intraparenchymal 1.2 cm hemorrhage and MRI brain showed various foci of hyperintensity compatible with hypertensive encephalopathy. He was also hypokalemic (2.9) with evidence of an AKI (BUN 27, Cr 1.73). He was admitted for further evaluation of suspected seizure. Upon further evaluation, the patient admitted to coarsening of facial features as noted on comparison of prior photographs. He also reported difficulties with his wedding ring fitting which he attributed to hand swelling. ROS was other negative with no vision changes or headaches. This sparked concern for a secondary cause of hypertension in the setting of clinical acromegaly. MRI brain was complicated by movement but revealed pituitary characteristics of empty sella syndrome. Insulin like growth factor 1 - 745. ECHO showed severe concentric left ventricular hypertrophy with aortic valve sclerosis and left atrial dilation. Renal Artery ultrasound showed no evidence of renal artery stenosis. The patient was subsequently scheduled for repeat MRI brain pituitary as outpatient under anesthesia to evaluate for possible surgical treatment for acromegaly. Discussion: This case demonstrates that empty sella syndrome does not warrant exclusion of acromegaly. GH secreting tumors can be present despite empty sella syndrome and acromegaly can even cause enlargement of the sella (?) . In these cases, the pituitary tissue lining the sella can be the source of excess GH. Upon case review, the mechanism remains unclear but empty sella syndrome may result from necrosis by infarction or from hemorrhage. Since no resectable mass is present in these cases, medical management with somatostatin analogues remains the only treatment that can be offered to these patients. It is important to keep acromegaly on the differential despite empty sella.

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We tested over 20, 000 genes by whole-exome sequencing in 144 Polish women with breast cancer from families with strong aggregation of this tumor. We identified a new breast cancer susceptibility gene (RECQL). In Poland, there is one major founder mutations of RECQL. Our results suggest that the risk of breast cancer among the carriers is increased over 5-fold. In addition, we detected two PALB2 founder mutations in our population which predispose to poor prognosis breast cancer. Over half of breast cancer patients with a PALB2 mutation died within 10 years from the diagnosis. The survival among women with breast cancer caused by mutations of PALB2 strongly depended on tumor size. Among mutation carriers with tumors smaller than 2 cm, 10-year survival was 82%. In contrast, among mutation carriers with tumors greater than 2 cm 10-year survival was only 32%. In summary, our research enabled to identify new determinants (inherited mutations) for breast cancer, the most common malignant tumor in women. AcknowledgementsThe study was funded by the Polish National Science Centre (DEC-2011/03/ N/NZ2/01510). In diagnosis of predisposition to hereditary non-polyposis colorectal cancer (Lynch syndrome) resulting from inheritance of mutations within mismatch repair genes (MMR) it is appropriate to apply techniques in order allowing the most effective detection of these mutations. According to our experience (International Hereditary Cancer Center, PMU) which is consistent with literature data, the basic criteria for the implementation of DNA testing are pedigree and clinical data. In Poland testing based on analysis of recurrent mutations, characteristic for our population, should be performed as the first. A2 Effectiveness of detection of mutations within genes predisposing to Lynch SyndromeThen, among non-carriers of these mutations it seems to be appropriate to analyse occurrence of large rearrangements with MLPA and MMR genes expression with IHC testing. Next generation sequencing of MMR genes should be performed in cases with IHC abnormalities. The use of different protocols based upon IHC testing and sequencing in sporadic CRC results in huge increase of costs-up to a level of 150 thousand PLN for one mutation detection. The main recognized founder populations in the world are those of Finland, Sardinia, Iceland, Costa Rica, the northern Netherlands and several discrete ethic groups, including the Ashkenazi Jews. A country where there are unequivocal founder mutations is Poland where a substantial fraction of hereditary breast and prostate cancers may be explained by founder mutations in BRCA1, RECQL, PALB2, NBS1 and CHEK2 genes, respectively. For hereditary colorectal cancer (CRC), implication of Polish founder mutation has been proved only once for one of MMR (mismatch repair) genes -MLH1 (which causes Lynch syndrome (LS) when mutated). Lately, we have revealed new founder mutation in another LS-related gene -EPCAM (TACSTD1). The mechanism of pathogenesis of EPCAM caused-LS is different comparing to single germline ...