Voclosporin: A Novel Calcineurin Inhibitor for the Treatment of Lupus Nephritis.

OBJECTIVE: To describe the safety, efficacy, and potential role in therapy of voclosporin, an oral calcineurin inhibitor approved by the Food and Drug Administration (FDA) in January 2021 as an adjunct treatment for lupus nephritis. DATA SOURCES: A literature search was conducted using PubMed with the following terms: voclosporin, Lupkynis, and lupus nephritis (January 1, 2010, to December 1, 2021). FDA product labeling was also reviewed for pertinent data sources. STUDY SELECTION AND DATA EXTRACTION: All articles were considered for inclusion. English-language articles selected included preclinical and clinical studies examining the pharmacokinetics, efficacy, and/or safety of voclosporin. DATA SYNTHESIS: Voclosporin has been studied as an adjunct immunosuppressive agent in patients with lupus nephritis. Drug design allows for a more predictable pharmacokinetic profile than other calcineurin inhibitors. Data suggest that adding this newly approved calcineurin inhibitor to a regimen of mycophenolate mofetil and corticosteroids produces promising therapeutic results. As such, voclosporin has been approved for use in patients with active lupus nephritis who are maintained on immunosuppressive therapy with mycophenolate mofetil and a corticosteroid. RELEVANCE TO PATIENT CARE AND CLINICAL PRACTICE: Voclosporin may be a favorable calcineurin inhibitor in patients with lupus nephritis, due to a predictable pharmacokinetic profile. This allows for decreased therapeutic drug monitoring and suggests a favorable adverse effect profile. However, cost remains a consideration with this new agent. CONCLUSIONS: Current available data suggest that voclosporin is a promising adjunct treatment option for patients with active lupus nephritis who are maintained on mycophenolate mofetil and a corticosteroid.

Haemorrhage in pre-existing adrenal masses. A case series.

INTRODUCTION: Adrenal haemorrhage in the context of a pre-existing adrenal mass is a rare, underestimated and potentially fatal surgical emergency. It is a rare cause of acute abdominal pain. PRESENTATION OF CASES: Data from 13 patients with adrenal haemorrhage in a pre-existing adrenal mass were prospectively collected during a 9 year period from a single institution. All patients underwent CT imaging which formed the basis of diagnosis and a complete endocrinological evaluation. Seven out of 13 patients underwent an elective surgical procedure and 2 patients underwent emergency laparotomy. Five out of 13 patients were diagnosed with metastatic disease. One patient was diagnosed with pheochromocytoma. DISCUSSION: The likelihood of an undiagnosed pheochromocytoma renders emergency surgery extremely precarious. Complete patient evaluation includes testing for hormonally active adrenal tumors and malignancy. Emergency surgery is reserved for cases where conservative management fails. CONCLUSION: Haemorrhage of an adrenal mass constitutes a diagnostic and therapeutic challenge. Most patients respond well to initial resuscitation efforts. When feasible, patients should undergo a complete hormonal and oncologic evaluation before surgical intervention is considered.

An Evaluation of Emergency Hand Coverage in Tennessee After Implementation of the Affordable Care Act.

Although the upper extremity is the most commonly injured part of the body, many studies have indicated that there is a lack of emergency hand coverage in the United States. In 2010, our laboratory evaluated on-call hand coverage in Tennessee (TN) and found that only 7% of hospitals had a hand surgeon on call for emergency cases at all times. In 2014, the Affordable Care Act (ACA) was implemented with the goal of increasing overall access to care and decreasing health care costs. Hand surgeons were surveyed on their attitudes toward the ACA, and the majority of surgeons surveyed disagreed or strongly disagree that the ACA would improve access to emergent hand surgery. This study aimed to determine if there has been an increase in emergency hand coverage in TN since the implementation of the ACA. A survey was administered to all hospitals in TN with both an emergency department and operating room to determine the percentage of TN hospitals offering elective hand surgery and on-call emergency hand coverage. With 94% of TN hospitals responding to the emergency department survey, we determined that there has been a 138% significant increase in the percentage of hospitals reporting 24/7 emergency hand coverage by a hand specialist since our last study in 2010. There has also been a significant increase in elective hand coverage in TN, although much smaller at 13% since 2010. This study suggests that there has been an overall increase in access to hand care in TN since the implementation of the ACA, most profoundly seen in the increase in hand specialists available for emergent cases.

Circulating thyroid cancer biomarkers: Current limitations and future prospects.

Differentiated thyroid cancer (DTC) is the most common malignancy of the endocrine system. There has been a significant increase in its incidence over the past two decades attributable mainly to the use of more sensitive diagnostic modalities. Ultrasound-guided fine needle aspiration cytology is the mainstay of diagnosis of benign disorders and malignancy. However, approximately 20% of lesions cannot be adequately categorized as benign or malignant. In the postoperative setting, monitoring of thyroglobulin (Tg) levels has been employed for the detection of disease recurrence. Unfortunately, Tg antibodies are common and interfere with Tg measurement in this subset of patients. Despite this limitation, Tg remains the sole widely used thyroid cancer biomarker in the clinical setting. In an attempt to bypass antibody interference, research has focused mainly on mRNA targets thought to be exclusively expressed in thyroid cells. Tg and thyroid stimulating hormone receptor (TSHR) mRNA have been extensively studied both for discerning between benign disease and malignancy and in postoperative disease surveillance. However, results among reports have been inconsistent probably reflecting considerable differences in methodology. Recently, microRNA (miRNA) targets are being investigated as potential biomarkers in DTC. MiRNAs are more stable molecules and theoretically are not as vulnerable as mRNA during manipulation. Initial results have been encouraging but large-scale studies are warranted to verify and elucidate their potential application in diagnosis and postoperative surveillance of thyroid cancer. Several other novel targets, primarily mutations and circulating cells, are currently emerging as promising thyroid cancer circulating biomarkers. Although interesting and intriguing, data are limited and derive from small-scale studies in specific patient cohorts. Further research findings demonstrating their value are awaited with anticipation.

Surgery for pheochromocytoma: A 20-year experience of a single institution.

OBJECTIVE: Resection of pheochromocytomas is a challenging procedure due to hemodynamic lability. Our aim was to evaluate surgical outcomes in 67 patients with pheochromocytoma and to validate the role of laparoscopic surgery in the treatment of these tumors. DESIGN: This study is a retrospective review. A total of 68 procedures for pheochromocytoma were performed between June 1997 and February 2017. All patients were investigated and operated on using an established departmental protocol. Relevant data were retrieved from the hospital records of 533 patients who underwent 541 adrenalectomies for benign and malignant adrenal tumors in the same period. RESULTS: Sixty-nine tumors were removed from 67 patients. One patient with/MEN2A underwent bilateral resection of pheochromocytomas in two stages. Tumor size in laparoscopic procedures ranged from 1.2 cm to 11.0 cm (mean 5.87 cm). Thirty-seven patients had benign disease, 31 potentially malignant (based on PASS) and 1 malignant with metastasis. Eight were in the context of a familial syndrome. Forty-nine patients underwent laparoscopic adrenalectomy, 8 patients had open approach from the start for recurrent pheochromocytoma or large benign tumor, 1 patient had open approach due to inoperable malignant pheochromocytoma and 10 patients had conversions from laparoscopic to open procedure. Nine patients received sodium nitroprusside intraoperatively to treat hypertension. One patient developed pulmonary embolism and succumbed 1 month later. There were no recurrences of the benign or potentially malignant tumors during the follow-up period. CONCLUSIONS: Laparoscopic resection of pheochromocytomas, despite its increased level of difficulty compared to that of other adrenal tumors, is a safe and effective procedure.

Laparoscopic surgery for pancreatic insulinomas: an update.

Insulinomas are the most common functioning neuroendocrine tumors of the pancreas, occurring in almost 1-4 per 1 million persons each year. In contrast to other pancreatic neuroendocrine tumors, they are usually benign and solitary at the time of diagnosis. Due to their benign nature, surgical excision is the treatment of choice, with excellent long-term results. The introduction of minimally invasive techniques in the surgical treatment of insulinoma has been gaining popularity due to shorter length of hospital stay and better cosmetic results, with serious complications being comparable to those of open surgery. Preoperative localization is of paramount importance in the determination of the appropriate surgical approach. Many invasive and non-invasive methods exist for localization of an insulinoma. A combination of these modalities is usually adequate to preoperatively localize the vast majority of tumors. Laparoscopic ultrasound is mandatory to localize these tumors intraoperatively. Despite extensive experience in highly specialized centers producing encouraging results, no randomized trials have been realized to conclusively validate these case series, this partly due to the rarity of insulinoma in the population. In this article we present the current state of laparoscopic management of insulinoma delineating still unanswered issues and we underscore some of the technical details of the most common laparoscopic procedures employed.

"NACsomes": A new classification system of the blood supply to the nipple areola complex (NAC) based on diagnostic breast MRI exams.

BACKGROUND: Breast MRIs have become increasingly common in breast cancer work-up. Previously obtained breast MRIs may facilitate oncoplastic surgery by delineating the blood supply to the nipple-areola complex (NAC). The aim of this study was to identify and classify the in vivo blood supply to the NAC using breast MRI exams. METHODS: Breast MRIs obtained over a one-year period were retrospectively reviewed. Patients with negative MRI findings (BI-RADS category 1) were included; patients with diagnoses of breast cancer or previous breast surgery were excluded. Twenty-six patients were evaluated. Dominant blood supply was determined by maximum filling at 70 s post-contrast. Blood supply to the NAC was classified into five anatomic zones: medial (type I), lateral (type II), central (type III), inferior (type IV) and superior (type V). RESULTS: Patient age ranged from 33 to 70 years. Fifty-two breasts were evaluated and 80 source vessels were identified (37 right, 43 left). Twenty-eight breasts had type I only blood supply, 22 breasts had multi-zone blood supply (type I + II, n = 20; type I + III n = 2), one breast had type II only blood supply, and a single breast had type III only blood supply. Anatomic symmetry was observed in 96% of patients. CONCLUSION: This study utilized MRI to evaluate in vivo vascular anatomy of the NAC, classify NAC perfusion ("NACsomes"), and assess vascular symmetry between breasts. Superomedial source vessels supplying the NAC were predominant. Preoperatively defining NAC blood supply may aid planning for oncoplastic procedures.

Minimally Invasive Transforaminal Lumbar Interbody Fusion (TLIF) for Spondylolisthesis in 282 Patients: In Situ Arthrodesis versus Reduction.

OBJECTIVE: The benefits of spondylolisthesis reduction via minimally invasive transforaminal lumbar interbody fusion (MI-TLIF) remain poorly understood. The purpose was to compare the complications, perioperative factors, and fusion rates in patients undergoing MI-TLIF for degenerative spondylolisthesis between those in whom reduction was or was not performed. INCLUSION CRITERIA: 1) patients who underwent a 1, 2, or 3 level MI-TLIF and 2) had a preoperative diagnosis of degenerative spondylolisthesis (Meyerding grade >0). EXCLUSION CRITERIA: >10° coronal curves, significant sagittal malalignment, infection, and preoperative hardware failure. Patients were grouped on the basis of those who underwent reduction of the spondylolisthesis by at least 1 Meyerding grade (RED) and those who did not (NORED). RESULTS: A total of 282 patients were included: RED (162, 57.4%) and NORED (120, 42.6%). Mean ages (61.68 ± 10.43 vs. 61.88 ± 11.76 years, respectively, P > 0.05) and operative times (P > 0.05) were statistically similar. RED had a significantly larger EBL (280.2 ± 24.03 vs. 212.61 ± 17.54, P < 0.05). The length of hospital stay, intraoperative complications, postoperative medical and surgical complications, and disposition were statistically similar between groups (P > 0.05, for all). RED had a significantly higher percentage of patients with a successful fusion at 1 year than NORED (84.50% vs. 70.83%, P < 0.05). CONCLUSION: Reduction of spondylolisthesis was not associated with an increase in operative time, length of stay, and perioperative and postoperative complications compared with fusion in situ. Reduction was associated with higher blood loss but also a higher rate of fusion success at 1 year. Overall, reduction did not incur additional risk and had positive perioperative outcomes.

Intraoperative and perioperative complications in minimally invasive transforaminal lumbar interbody fusion: a review of 513 patients.

OBJECT Transforaminal lumbar interbody fusion (TLIF) has become one of the preferred procedures for circumferential fusion in the lumbar spine. Over the last decade, advances in surgical techniques have enabled surgeons to perform the TLIF procedure through a minimally invasive approach (MI-TLIF). There are a few studies reported in the medical literature in which perioperative complication rates of MI-TLIF were evaluated; here, the authors present the largest cohort series to date. They analyzed intraoperative and perioperative complications in 513 consecutive MI-TLIF-treated patients with lumbar degenerative disc disease. METHODS The authors performed a retrospective review of prospectively collected data on 513 consecutive patients treated over a 10-year period for lumbar degenerative disc disease using MI-TLIF. All patients undergoing either a first-time or revision 1- or 2-level MI-TLIF procedure were included in the study. Demographic, intraoperative, and perioperative data were collected and analyzed using bivariate analyses (Student t-test, analysis of variance, odds ratio, chi-square test) and multivariate analyses (logistic regression). RESULTS A total of 513 patients underwent an MI-TLIF procedure, and the perioperative complication rate was 15.6%. The incidence of durotomy was 5.1%, and the medical and surgical infection rates were 1.4% and 0.2%, respectively. A statistically significant increase in the infection rate was seen in revision MI-TLIF cases, and the same was found for the perioperative complication rate in multilevel MI-TLIF cases. Instrumentation failure occurred in 2.3% of the cases. After analysis, no statistically significant difference was seen in the rates of durotomy during revision and multilevel surgeries. There was no significant difference between the complication rates when stratified according to presenting diagnosis. CONCLUSIONS To the authors' knowledge, this is the largest study of perioperative complications in MI-TLIF in the literature. A total of 513 patients underwent MI-TLIF (perioperative complication rate 15.6%). The most common complication was a durotomy (5.1%), and there was only 1 surgical wound infection (0.2%). There were significantly more perioperative infections in revision MI-TLIF cases and more perioperative complications in multilevel MI-TLIF cases. The results of this study suggest that MI-TLIF has a similar or better perioperative complication profile than those documented in the literature for open-TLIF treatment of degenerative lumbar spine disease.

Primary intrahepatic malignant epithelioid mesothelioma.

INTRODUCTION: Primary malignant hepatic mesotheliomas are extremely rare. We report the case of a patient with primary intrahepatic malignant mesothelioma who was treated in our department. PRESENTATION OF CASE: A 66-year old male patient was admitted to our department for the evaluation of anemia. An abdominal computed tomography scan revealed a large space occupying lesion in the right liver lobe. DISCUSSION: The tumor was subsequently resected and a diagnosis of primary intrahepatic malignant mesothelioma was made after pathologic examination. The patient did not receive adjuvant therapy and is currently alive and free of disease, 36 months after the resection. CONCLUSION: To our knowledge this is the eighth adult case of primary intrahepatic malignant mesothelioma reported in the literature. These tumors are rarely diagnosed preoperatively. Absence of previous asbestos exposure does not exclude malignant mesothelioma from the differential diagnosis. Proper surgical treatment may offer prolonged survival to the patient, without adjuvant therapy.

Bilateral neurological deficits following unilateral minimally invasive TLIF: A review of four patients.

BACKGROUND: Minimally invasive transforaminal lumbar interbody fusion (MI-TLIF) is commonly used for the treatment of degenerative lumbar spinal disorders. The rate of postoperative neurological deficits is traditionally low. New neurological postoperative complications may be underreported. We report our infrequent rate of MI-TLIF procedures complicated by postoperative weakness. METHODS: A database of 340 patients was evaluated, all of whom underwent MI-TLIF procedures performed between January 2002 and June 2012 by the senior author. We identified four cases (1.2%) whose postoperative course was complicated with bilateral lower extremity weakness. We retrospectively reviewed their past medical history, operative time, estimated blood loss, length of hospital stay, changes in intraoperative neurophysiological monitoring, and pre- and postoperative neurological exams. RESULTS: The average age of the four patients was 65.5 years(range: 62-75 years), average body mass index (BMI) was 25.1 (range: 24.1-26.6), and there were three females and one male. All patients had preoperative degenerative spondylolisthesis (either grade I or grade II). All patients were placed on a Wilson frame during surgery and underwent unilateral left-sided MI-TLIF. Three out of the four patients had a past medical history significant for abdominal or pelvic surgery and one patient had factor V Leiden deficiency syndrome. CONCLUSIONS: The rate of new neurological deficits following an MI-TLIF procedure is low, as documented in this study where the rate was 1.2%. Nonetheless, acknowledgement and open discussion of this serious complication is important for surgeon education. Of interest, the specific etiology or pathophysiology behind these complications remains relatively unknown (e.g. direct neural injury, traction injury, hypoperfusion, positioning complication, and others) despite there being some similarities between the patients and their perioperative courses.

Efficacy and safety of laparoscopic mini gastric bypass. A systematic review.

BACKGROUND: Laparoscopic mini-gastric bypass (LMGB) is a relatively new bariatric procedure; published studies are accumulating in various settings. The objective of this study was to summarize the available evidence about the efficacy and safety of LMGB. METHODS: A systematic search in the literature was performed , and PubMed and reference lists were scrutinized (end-of-search date: July 15, 2013). For the assessment of the eligible articles, the Newcastle-Ottawa quality assessment scale was used. RESULTS: Ten eligible studies were included in this study, reporting data on 4,899 patients. According to all included studies, LMGB induced substantial weight and body mass index reduction, as well as substantial excess weight loss. Moreover, resolution or improvement in all major associated medical illnesses and improvement in overall Gastrointestinal Quality of Life Index score were recorded. Major bleeding and anastomotic ulcer were the most commonly reported complications. Readmission rate ranged from 0%- 11%, whereas the rate of revision operations ranged from .3%- 6%. The latter were conducted due to a variety of medical reasons such as inadequate or excessive weight loss, malnutrition, and upper gastrointestinal bleeding. Finally, the mortality rate ranged between 0% and .5% among primary LMGB procedures. CONCLUSION: LMGB represents an effective bariatric procedure; its safety and minimal postoperative morbidity seem remarkable. Randomized comparative studies seem mandatory for the further evaluation of LMGB.

The effect of surgical level on self-reported clinical outcomes after minimally invasive transforaminal lumbar interbody fusion: L4-L5 versus L5-S1.

OBJECTIVE: The anatomic and biomechanical aspects of the L5-S1 level present unique operative challenges compared with the L4-L5 level. However, it has not been determined if self-reported outcomes and complications are different between patients treated with a minimally invasive transforaminal lumbar interbody fusion at these specific levels. METHODS: There were 36 consecutive patients identified who were treated with a minimally invasive transforaminal lumbar interbody fusion procedure. Surgical indications included spondylolisthesis (grade 1 or 2) and degenerative disk disease with associated clinical symptoms. Patients completed a visual analog scale (VAS) for their back and leg and Oswestry Disability Index preoperatively and postoperatively. Outcomes were compared between patients with L4-L5 involvement and patients with L5-S1 involvement. In all patients, fusion was evaluated by dynamic view flexion and extension views at 1 year. In all patients with indeterminate results or incomplete imaging, computed tomography was performed to evaluate for bridging bone and stable hardware positioning. RESULTS: The surgical indications between the 2 groups were similar (χ(2) = 0.089, df = 2, P = 0.956). There was no significant difference in mean operating time, intraoperative blood loss, and hospital stay (P = 0.937, 0.627, and 0.587). There was no significant difference in the long-term postoperative questionnaire results (P = 0.819 for VAS [back], 0.626 for VAS [leg], and 0.962 for Oswestry Disability Index) or the mean preoperative to postoperative change in Cobb angle (P = 0.626) between the 2 groups. Two complications, one in each group, were a rash from an antibiotic and postoperative nausea. CONCLUSIONS: Despite differences in biomechanics and unique anatomic challenges at the L5-S1 interspace, there is no difference in self-reported outcomes for patients treated with minimally invasive transforaminal lumbar interbody fusion at the L4-L5 level compared with the L5-S1 level.

Minimally invasive thoracic decompression for multi-level thoracic pathologies.

We describe our experience using a minimal access approach for multi-level dorsal decompression of the thoracic spine that may limit approach-related soft-tissue injury and spinal destabilization. Additionally, three patients, each with unique compressive thoracic pathology, are discussed. A single minimal access technique, using multi-level hemilaminotomies, was used to address these unique pathologies via a similar approach. The three patients in this study had a mean age of 49.3 years (range: 45-55 years), mean estimated blood loss of 750 cc (range: 350-1000 cc), mean operative time of 3.8 hours (range: 3-5 hours), and a mean post-operative hospital stay of 2.3 days (range: 2-3 days). Complete decompression was achieved with resolution of symptoms in all patients. Long-term follow-up averaged 26.7 months (range: 15-36 months). Radiographic decompression was demonstrated in all patients. Minimal access techniques using muscle-splitting tubular retractor systems can effectively treat multi-level dorsal compression of the thoracic cord, while potentially limiting morbidity and long-term spinal instability.

Outcome following unilateral versus bilateral instrumentation in patients undergoing minimally invasive transforaminal lumbar interbody fusion: a single-center randomized prospective study.

OBJECT: Minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) is used to treat a wide variety of lumbar degenerative disorders. Although there are some reports showing efficacy of unilateral instrumentation during MIS-TLIF, a controlled randomized prospective study has not been done. METHODS: Forty-one patients were randomly assigned to receive either bilateral or unilateral instrumentation following 1-level unilateral MIS-TLIF. Four patients were lost to follow-up in the unilateral group and 1 patient was lost to follow-up in the bilateral group. Preoperative and postoperative scores on a visual analog scale (VAS) for back pain and leg pain (VAS-BP and VAS-LP, respectively), Oswestry Disability Index (ODI), and 36-Item Short Form Healthy Survey version 2 (SF-36v2) were collected. Additionally, preoperative and postoperative segmental Cobb angles and radiographic evidence of fusion were analyzed. RESULTS: There was no statistically significant difference in baseline demographic characteristics between the 2 groups. The VAS-BP, VAS-LP, ODI, and SF-36v2 physical component scores improved significantly after surgery in both groups (p < 0.05); there was no statistically significant between-groups difference in the degree of improvement. Blood loss was significantly higher in the bilateral instrumentation group and hospital stay was longer in the unilateral instrumentation group. There was no statistically significant between-groups difference with respect to change in segmental lordosis or fusion rate. The average duration of follow-up was 12.4 months for the bilateral instrumentation group and 11.4 months for the unilateral instrumentation group. CONCLUSIONS: Clinical and radiographic outcomes of unilateral and bilateral instrumentation for unilateral MISTLIF are similar 1 year after surgery.

Evidence-based management of central cord syndrome.

OBJECT: Evidence-based medicine is used to examine the current treatment options, timing of surgical intervention, and prognostic factors in the management of patients with traumatic central cord syndrome (TCCS). METHODS: A computerized literature search of the National Library of Medicine database, Cochrane database, and Google Scholar was performed for published material between January 1966 and February 2013 using key words and Medical Subject Headings. Abstracts were reviewed and selected, with the articles segregated into 3 main categories: surgical versus conservative management, timing of surgery, and prognostic factors. Evidentiary tables were then assembled, summarizing data and quality of evidence (Classes I-III) for papers included in this review. RESULTS: The authors compiled 3 evidentiary tables summarizing 16 studies, all of which were retrospective in design. Regarding surgical intervention versus conservative management, there was Class III evidence to support the superiority of surgery for patients presenting with TCCS. In regards to timing of surgery, most Class III evidence demonstrated no difference in early versus late surgical management. Most Class III studies agreed that older age, especially age greater than 60-70 years, correlated with worse outcomes. CONCLUSIONS: No Class I or Class II evidence was available to determine the efficacy of surgery, timing of surgical intervention, or prognostic factors in patients managed for TCCS. Hence, there is a need to perform well-controlled prospective studies and randomized controlled clinical trials to further investigate the optimal management (surgical vs conservative) and timing of surgical intervention in patients suffering from TCCS.

Determination of the membrane topology of lemur tyrosine kinase 2 (LMTK2) by fluorescence protease protection.

Lemur tyrosine kinase 2 (LMTK2) is a novel membrane-anchored kinase reported to be involved in several normal and pathophysiological conditions, including endosomal membrane recycling, prostate cancer, and neurodegeneration. In this study, we have investigated the topology and orientation of LMTK2 within cellular membranes utilizing fluorescence protease protection. Appending the green fluorescent protein to either the amino or carboxyl terminus of LMTK2, we were able to determine which side of intracellular membrane these regions were located. Our results indicate that LMTK2 is an integral membrane protein in which both the amino and carboxyl termini are exposed to the cytoplasm. Moreover, this topology places the kinase active site within the cytoplasm.

Prevalence of thrombosis-related DNA polymorphisms in a healthy Greek population.

Genetic association studies have revealed a correlation between DNA variations in genes encoding factors of the haemostatic system and thrombosis-related disease. This study investigated the prevalence of 13 such genetic risk factors in a sample (N=400 alleles) of the Hellenic population of Greece. Some of these polymorphisms [coagulation factor V (F5) Leiden, coagulation factor II (F2) G20210A, 5,10-methylene tetrahydrofolate reductase (MTHFR) C677T, coagulation factor XIII A1 subunit (F13A1) Val34Leu, serpine1 (SERPINE1) 4G/5G, angiotensin I-converting enzyme (ACE) I/D, angiotensinogen (AGT) Met325Thr, integrin A2 (ITGA2) C807T] have been previously studied in Hellenic populations of Greece and Cyprus, while others such as coagulation factor XII (F12) C46T, plasma carboxypeptidase B2 (CPB2) C1040T, platelet glycoprotein Ib α polypeptide (GP1BA) VNTR, thrombomodulin (THBD) -A33G and protein Z (PROZ) - A13G have not. Most of the allelic frequencies observed are similar to those reported for other Southern European populations. Knowledge of the prevalence of these variations in a given population may assist in the design of effective preventive measures against cardiovascular disease.