First genotype-phenotype study reveals HLA-DQß1 insertion heterogeneity in high-resolution manometry achalasia subtypes.

Background: Achalasia is a primary oesophageal motility disorder. Although aetiology remains mainly unknown, a genetic risk variant, rs28688207 in HLA-DQB1, showed strong achalasia association suggesting involvement of immune-mediated processes in the pathogenesis. High-resolution manometry recognises three types of achalasia. The aim of our study was to perform the first genotype-phenotype analysis investigating the frequency of rs28688207 across the high-resolution manometry subtypes. Methods: This was a cross-sectional retrospective study. Achalasia patients from tertiary centres in the Czech Republic (n = 163), Germany (n = 114), Greece (n = 70) and controls were enrolled. All subjects were genotyped for the rs28688207 insertion. The Kruskal-Wallis test was used for the genotype-phenotype analysis. Results: A total of 347 achalasia patients (type I - 89, II - 210, III - 48) were included. The overall frequency of the rs28688207 was 10.3%. The distribution of the insertion was significantly different across the high-resolution manometry subtypes (p = 0.038), being most prevalent in type I (14.6%), followed by type II (9.5%) and III (6.3%). Conclusion: The frequency of the HLA-DQB1 insertion differs among high-resolution manometry achalasia subtypes. The insertion is most prevalent in type I, suggesting that immune-mediated mechanisms triggered by the insertion may play a more prominent role in the pathogenesis of this subtype.

Medical laboratory quality systems - a management review.

PURPOSE: The purpose of this paper is to highlight changes in ISO 15189:2012 and ISO 15189:2007 concerning management review requirements and to present a management review checklist, which includes all the revised ISO 15189's requirements. DESIGN/METHODOLOGY/APPROACH: The recent revised and updated ISO 15189:2012 standard recommends a management review using a process approach and includes some additional topics. FINDINGS: The management review is a key element in many quality management systems, including medical laboratory management systems in accordance with ISO 15189. The process approach enables laboratory top managers and personnel to achieve all the quality management system's important inputs and outputs. ORIGINALITY/VALUE: As laboratory staff often encounter difficulties fully exploiting the management review process, this checklist helps laboratory staff carry out an effective management review covering all the quality management system's important aspects.

Cardiac troponin I after carotid endarterectomy in different cardiac risk patients.

BACKGROUND: We compared postoperative cardiac damage, defined as cardiac troponin I (cTnI) elevation, in low, medium, and high cardiac risk patients, after carotid endarterectomy (CEA). METHODS: The Vascular Study Group of New England Cardiac Risk Index (VSG-CRI) criteria for stratifying patients considered for vascular surgery into low, medium, and high cardiac risk groups were used prospectively. For all patients (n = 324), cTnI value assessments were made before surgery and on postoperative days 1, 3, and 7. Postoperative cTnI values ranging from .05 to .5 ng/mL were classified as myocardial ischemia; values more than .5 ng/mL were classified as myocardial infarction. Cardiac damage was defined as either myocardial ischemia or infarction. RESULTS: Mortality was .003%, stroke rate was null, and symptomatic myocardial infarction was null as well. Low-risk patients (16 of 140) and medium-risk patients (28 of 160) increased their troponin levels on days 1 and 3 postoperatively. However, none of the high-risk patients (n = 24) showed any postoperative cardiac damage. Low and medium cardiac risk patients showed higher troponin values on each separate day, in comparison with high cardiac risk patients. CONCLUSIONS: CEA is followed by a high incidence of asymptomatic cTnI increase that is associated with late cardiac events. However, high cardiac risk patients as defined by the VSG-CRI criteria do not seem to suffer higher cardiac damage after CEA compared with low and medium cardiac risk patients.

Predictive role of stress echocardiography before carotid endarterectomy in patients with coronary artery disease.

OBJECTIVES: Our aim was to examine the predictive value of preoperative stress echocardiography regarding early myocardial ischemia and late cardiac events after carotid endarterectomy (CEA). METHODS: Patients with coronary artery disease undergoing CEA were prospectively included in this study. All patients (n = 162) were classified into low, medium, and high cardiac risk group, according to preoperative stress echocardiography. Classification was based on the criteria of the American Society of Echocardiography. For all patients, cTnI was measured before surgery and on postoperative days 1, 3, and 7. Postoperative cTnI values ranging from 0.05 to 0.5 ng/mL were classified as myocardial ischemia; values >0.5 ng/mL were classified as myocardial infarction. Cardiac damage was defined as either myocardial ischemia or infarction. RESULTS: No deaths, strokes, or symptomatic coronary events were observed during the early postoperative period. There were 112 low cardiac risk patients, 42 medium-risk patients, and 8 high-risk patients, according to stress echocardiography findings. Overall, there were 22 patients (14%) that increased their cTnI values postoperatively (12 of low cardiac risk and 10 of medium cardiac risk), and all of them were asymptomatic. None of the high-risk patients showed any troponin increase. Late cardiac events were associated with cTnI increase, although no high-risk patients showed any late event. CONCLUSIONS: Preoperative stress echocardiography does not seem to independently recognize patients in high risk for asymptomatic cardiac damage after CEA. Postoperative troponin elevation seems to be more predictive for late adverse cardiac events than preoperative stress echocardiography.

Osteopontin and Osteoprotegerin as Potential Biomarkers in Abdominal Aortic Aneurysm before and after Treatment.

Aim. Although osteopontin (OPN) and osteoprotegerin (OPG) have been associated with abdominal aortic aneurysms (AAAs), no association of these two biomarkers with AAA surgical or endovascular treatment has been reported. Material and Methods. Seventy-four AAA patients were prospectively selected for open or endovascular repair. All aneurysms were classified (Types A-E) according to aneurysmal extent in CT imaging (EUROSTAR criteria). All patients had preoperative serum OPN and OPG values measurements and 1 week after the procedure. Preoperative and postoperative values were compared with a control group of twenty patients (inguinal hernia repair). Results. Preoperative OPN values in patients with any type of aneurysm were higher than in the control group, while OPG values showed no difference. Postoperative OPN values in AAA patients were higher than in the control group. OPN values increased after open surgery and after EVAR. OPG values increased after open surgery but not after EVAR. There was no difference in OPN/OPG values between EVAR and open surgery postoperatively. Conclusions. OPN values are associated with aneurysm presence but not with aneurysm extent. OPG values are not associated either with aneurysm presence or with aneurysm extent. OPN values increase after AAA repair, independently of the type of repair.

Facial rejuvenation and improvement of malar projection using sutures with absorbable cones: surgical technique and case series.

BACKGROUND: Currently, the face can be reshaped with minimally invasive procedures. This report describes how the midface can be suspended by increasing the projection of the malar area, decreasing the nasolabial fold depth, and improving the jaw definition using 3-0 polypropylene sutures with absorbable cones (Silhouette Sutures). METHODS: Preoperative skin marks were made to indicate the four points on each side of the face where the sutures would exit through the skin: 1 cm lateral to the middle of the nasolabial fold, at the corner of the mouth, and on the line from the lateral corner of the lips to the angle of the mandible. The sutures were inserted through a 1.5-cm incision positioned in the temporal area. After insertion of the needle, the sutures were fixed to a small polypropylene mesh over the deep temporal fascia. RESULTS: A total of 316 patients were treated between January 2007 and December 2009. The results over a mean follow-up period of 18 months were good, with high patient satisfaction. All the complications experienced by 42 patients (13.3%) were minor and temporary including temporal area pain (7%), visible dermal pinching (3.5%), hematoma (1.3%), asymmetry (0.6%), and suture palpability (0.3%). There were no infections. CONCLUSIONS: Face-lifts were performed for 257 women with a mean age of 47 years and 59 men with a mean age of 49.5 years. This procedure can be performed for various age groups to rejuvenate and reshape the middle face. Men whose scars cannot be easily hidden due to baldness are good candidates as well. The technique led to stable results and only minor, temporary complications, with a high level of satisfaction among patients and surgeons. The longevity of the results beyond the mean follow-up period of 18 months needs to be determined.