Genetic and phenotypic overlap of specific obsessive-compulsive and attention-deficit/hyperactive subtypes with Tourette syndrome.

BACKGROUND: The unique phenotypic and genetic aspects of obsessive-compulsive (OCD) and attention-deficit/hyperactivity disorder (ADHD) among individuals with Tourette syndrome (TS) are not well characterized. Here, we examine symptom patterns and heritability of OCD and ADHD in TS families. METHOD: OCD and ADHD symptom patterns were examined in TS patients and their family members (N = 3494) using exploratory factor analyses (EFA) for OCD and ADHD symptoms separately, followed by latent class analyses (LCA) of the resulting OCD and ADHD factor sum scores jointly; heritability and clinical relevance of the resulting factors and classes were assessed. RESULTS: EFA yielded a 2-factor model for ADHD and an 8-factor model for OCD. Both ADHD factors (inattentive and hyperactive/impulsive symptoms) were genetically related to TS, ADHD, and OCD. The doubts, contamination, need for sameness, and superstitions factors were genetically related to OCD, but not ADHD or TS; symmetry/exactness and fear-of-harm were associated with TS and OCD while hoarding was associated with ADHD and OCD. In contrast, aggressive urges were genetically associated with TS, OCD, and ADHD. LCA revealed a three-class solution: few OCD/ADHD symptoms (LC1), OCD & ADHD symptoms (LC2), and symmetry/exactness, hoarding, and ADHD symptoms (LC3). LC2 had the highest psychiatric comorbidity rates (⩾50% for all disorders). CONCLUSIONS: Symmetry/exactness, aggressive urges, fear-of-harm, and hoarding show complex genetic relationships with TS, OCD, and ADHD, and, rather than being specific subtypes of OCD, transcend traditional diagnostic boundaries, perhaps representing an underlying vulnerability (e.g. failure of top-down cognitive control) common to all three disorders.

Evaluation of Forecasting Models for Fusarium Head Blight of Wheat Under Growing Conditions of Quebec, Canada.

Fusarium head blight (FHB) is a fungal disease of wheat (Triticum aestivum L.) causing frequent economic losses to farmers under growing conditions of Eastern Canada. To assess risks associated with this disease and guide fungicide use decisions, many researchers from numerous countries have developed weather-based forecasting models. This work aims at evaluating which model produces the most accurate predictions of disease infection or deoxynivalenol (DON) content under climatic conditions occurring in Quebec. Spring wheat was grown during two seasons and winter wheat during one season at four experimental sites located in Quebec. Nine selected models for evaluation produced predictions of DON content (Canada and Italy), disease incidence (Argentina and Italy), and probability of epidemics (United States). Data from plots without fungicide (52 samples) were used to test the models listed above. Reliability of the selected forecasting models was evaluated with receiver operating characteristic (ROC) curve analysis. DON content (≥1 ppm) was the best crop damage indicator to differentiate epidemic (cases) and nonepidemic (controls) situations. Two American and the Argentinean forecasting models were more reliable than the others when the thresholds recommended in the literature were adjusted using the results for the ROC curve analyses. Those models are a good starting point for the implementation of an FHB forecasting system adapted to wheat production in Quebec.

Genome-wide association study of Tourette's syndrome.

Tourette's syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (P<5 × 10(-8)); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (P=1.85 × 10(-6)). A secondary analysis including an additional 211 cases and 285 controls from two closely related Latin American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (P=3.6 × 10(-7) for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder.

History and perspectives in laparoscopic vascular surgery.

Laparoscopic techniques have changed the face of many surgical specialties. In this article, we describe the evolution of laparoscopy in vascular surgery from its beginning in the early 1990s. We discuss the present laparoscopic techniques for treatment of aortoiliac disease, their advantages and limitations. We suggest the vascular surgeon learns laparoscopy on the model used in general surgery a decade ago. Although more studies are needed to further define the role of laparoscopy, present indications can be found in those patients with TASC III and IV occlusive lesions and in patients with abdominal aortic aneurysms who are candidate to tube grafts or aortobifemoral bypass. With further refinements in technology (anastomotic stapling device, robotics) and techniques, laparoscopy should replace many open surgeries presently done for aortoiliac disease but will also have to be considered for treatment of mesenteric disease as described in the text.

Tourette syndrome and dopaminergic genes: a family-based association study in the French Canadian founder population.

Tourette syndrome (TS) is a genetically complex disorder for which no causative genes have been unequivocally identified. Nevertheless, a number of molecular genetic studies have investigated several candidate genes, particularly those implicated in dopamine modulation. The results of these studies were inconclusive, which may be due, at least in part, to the variable ethnicity of the patients included in different studies and the chosen research design. In this study, we used a family-based association approach to investigate the implication of dopamine-related candidate genes, which had been previously reported as possibly associated with TS [genes that encode for the dopamine receptors DRD2, DRD3 and DRD4, the dopamine transporter 1 (SLC6A3) and the monoamine oxidase-A (MAO-A). The studied group was composed of 110 TS patients. These patients were selected from the French Canadian population, which displays a founder effect. Excess transmission of the 7-repeat allele of the DRD4 exon-3 VNTR polymorphism (chi(2) TDT =4.93, 1 df, P=0.026) and the putative 'high-activity' alleles of the MAO-A promoter VNTR polymorphism (chi(2) TDT =7.124, 1 df P=0.0076) were observed. These results were confirmed in a subgroup of patients with no attention deficit/hyperactivity or obsessive compulsive comorbid disorders. Haplotype analysis using one or two supplemental polymorphism in each of these genes confirmed these associations and allowed one to identify risk haplotypes. No associations were found for DRD2, DRD3 or SLC6A3. These data support the notion that DRD4 and MOA-A genes may confer an increased risk for developing TS in the French Canadian population.

Totally laparoscopic abdominal aortic aneurysm repair.

Abdominal aortic aneurysm (AAA) resection is a major surgical procedure performed frequently. As a minimal access procedure, laparoscopy has been shown in the field of general surgery to improve a patient's postoperative well-being and to shorten hospital stay. The same benefits could be expected from a laparoscopic approach for AAA repair. We report what we believe to be the first totally laparoscopic AAA repair performed according to the principles of endoaneurysmorrhaphy.

Sealing of polyester prostheses with autologous fibrin glue and bone marrow.

The purpose of this study was to develop a sealing technique for polyester prosthetic grafts able to promote healing and reduce intimal hyperplasia. The porcine experimental model was aortoiliac bypass with a 6-mm diameter knitted polyester prosthetic graft implanted for 14 and 90 days. Animals were divided into three groups according to sealing technique as follows: pre-clotting with blood (group I, n = 12), sealing with autologous fibrin glue (group II, n = 14), and sealing with autologous fibrin glue and bone marrow cells (group III, n = 16). Feasibility and quality of sealing were evaluated by scanning electron microscopy prior to implantation and by assessment of blood loss. After removal, prostheses were cut into three segments comprising the proximal anastomosis, midsection, and distal anastomosis. Pieces were fixed, embedded in paraffin, and serially sectioned for histologic study. Histological study focused on the degree of stenosis and hyperplasia of the neointima of each prosthesis. The results of this short-term study indicate that sealing of polyester vascular prosthetic grafts with autologous fibrin glue and bone marrow cells is effective in reducing intimal hyperplasia. However further study will be needed to assess long-term healing.

Endovascular procedures under near-real-time magnetic resonance imaging guidance: an experimental feasibility study.

PURPOSE: The purpose of this study was to assess the feasibility of insertion of endovascular stents and the precision of an open-field interventional magnetic resonance imaging (iMRI) system in an in vivo model. METHODS: A feasibility study was undertaken at a university-affiliated hospital. Three male piglets with an average age of 6 months and a weight between 70 and 77 kg and two 3-month-old male piglets that weighed 40 to 44 kg were anesthetized. The five piglets underwent placement of nitinol stents inserted through the right femoral artery, under the guidance of a SIGNA-SP 0. 5T open-configuration iMRI unit. With a dedicated high-resolution near-real-time MRI sequence, the stent was guided and deployed onto a predefined target. RESULTS: The main outcome measures were the duration of the procedure from the beginning of positioning to the end of deployment of the stent, the final position of the stent in relation to the target on the iMRI screen, and comparison with autopsy findings. Three stents were deployed within the aorta at the level of the renal arteries, and two were deployed within the right iliac artery just below the aortic trifurcation. The average duration of the endovascular deployment was 13 minutes. There was an agreement of 0.6 mm in the position of the stent as observed on iMR images and found at autopsy. When the piglets were sacrificed, the average distance between the stents and the predefined target was 7. 8 mm, mostly because of the migration of one stent. Axial views allowed for accurate determination of stent impaction on the vascular wall. CONCLUSIONS: This study confirms the feasibility of stent deployment under near-real-time MRI guidance. It also emphasizes some inherent characteristics that hold promise with regard to other conventional techniques: stents and vascular structures are visualized in near-real-time in any desired plane, and the technique is performed without the potential adverse effects of ionizing radiations and iodinated contrast agents.

In vitro evaluation of the accuracy of open-configuration MRI in endovascular techniques.

The purpose of this study was to determine the accuracy of an interventional magnetic resonance imaging (iMRI) system to position an endovascular catheter in an in vitro model that simulated an infrarenal aortic aneurysm. Adequate visualization of abdominal aortic aneurysms (AAAs) was shown previously in humans. A dedicated near-real-time imaging protocol readily available on a Signa SP 0.5T open configuration MRI unit (General Electric Medical Systems, Milwaukee, WI, USA) was used to image the AAAs of ten human volunteers. A pulsatile in vitro model that simulated an AAA was built, which included the kidneys, the renal arteries, the aorta, and the iliac arteries. A catheter was advanced to a predetermined target through one of the iliac limbs of the model. Using two different techniques, the accuracy with which an interventionist could position the endovascular catheter under the near-real-time guidance of the iMRI system was evaluated. The AAAs of all ten patients were visualized, including the aneurysm wall, the thrombus within it, and the residual lumen, while maintaining adequate contrast, signal, and imaging speed. The position of the catheter was evaluated on target in 42 in vitro procedures. This series of tests showed an average accuracy of 1 mm for catheter positioning. The near-real-time imaging mode of the iMRI system enabled satisfactory evaluation of human AAAs, and it showed great accuracy for catheter positioning in the in vitro model. These results provide optimism regarding the potential of iMRI in endovascular surgery.

Fat- and bone marrow-impregnated small diameter PTFE grafts.

OBJECTIVES: to evaluate an alternative and simple technique which consists in impregnation of a synthetic prosthesis with either autogenic omental fat or bone marrow. These tissues have been selected based on previous works and because they contain multiple cellular and extracellular compounds with biological healing properties (i.e. angiogenesis, endothelialisation, etc.). DESIGN: PTFE grafts of Group 1 were impregnated with fatty tissue, those of Group 2 with bone marrow and those of Group 3 served as controls. MATERIALS: nine mongrel dogs divided among these three groups. PTFE grafts are 3 mm in diameter. METHODS: in each animal, both iliac arteries were submitted to an end-to-side ilio-iliac bypass. At 3 months, pathology assessment was performed. RESULTS: group 1: all grafts were thrombosed and intimal hyperplasia was found occluding the anastomotic sites. Group 2: 4/6 grafts were patent and their mid-portion presented a thin neointima which did not totally cover the anastomotic sites. Group 3: 2/5 grafts were patent and their mid-portion as well as the anastomotic sites were covered with neointima which was hyperplastic in some areas. CONCLUSIONS: addition of bone marrow cells may contribute to improve the quality of the healing process.

Technological advances in laparoscopic aorto-occlusive surgery.

Minimally invasive surgery (MIS) has been recognized as increasingly beneficial to patients undergoing various cardiovascular surgical procedures. Cardiac applications with MIS techniques and technologies are being shown as beneficial in heart valve replacement and in coronary artery bypass. In vascular surgery, benefits are being reported for endoscopic saphenous vein harvesting as well as endoscopic ligation of incompetent perforators. Since 1993, applications of laparoscopy to aortic surgery have been reported. Until these reports, percutaneous interventional procedures have been the mainstay of MIS vascular work for aortoiliac disease. Reported laparoscopic techniques have ranged from laparoscopically assisted techniques to procedures performed completely laparoscopically. Several studies show that laparoscopic aortic surgery is feasible. These show the known advantages of MIS for patients, with decreased use of analgesics, shortened ileus, earlier ambulation, and shortened length of stay. Laparoscopy has been showing a growing role in the armamentarium of the modern vascular surgeon.

A model for laparoscopic aortic aneurysm resection.

BACKGROUND: The laparoscopic treatment of abdominal aortic aneurysm (AAA) could improve the perioperative course of patients suffering from this disease. The goal of the current experiment was to develop an animal model that could simulate many of the difficulties encountered in the treatment of human AAA. METHODS: Twelve piglets were submitted to a laparotomy. An AAA was created by suturing a 12- by 5-cm piece of knitted dacron to an aortotomy. Four to 15 days later, the piglets underwent the laparoscopic treatment of their AAA. RESULTS: All procedures were completed successfully. The average duration of the laparoscopic intervention was 210 min (range, 150-300 min). Aortic cross-clamping took 55 min (range, 38-72 min). Blood loss averaged 150 ml (range, 80-250 ml). During each procedure, four to six lumbar arteries were treated by intraluminal aortic clip application. Intraoperative complications consisted of one splenic trauma, one anastomotic stenosis, and one case of bleeding from a lumbar vein. CONCLUSION: Laparoscopic AAA resection is feasible in this animal model, which presents similarities to human AAA.

Laparoscopic end-to-end aortobifemoral bypass with reimplantation of the inferior mesenteric artery. An experimental study.

BACKGROUND: Colic ischemia is a serious complication that can occur after abdominal aortic surgery. It has been described in two patients after laparoscopic aortic surgery. The goal of the current experiment was to determine the feasibility of inferior mesenteric artery (IMA) reimplantation during laparoscopic aortobifemoral bypass (LAFB). METHODS: Six piglets were submitted to the laparoscopic approach according to the "apron" technique previously described. The infrarenal aorta was clamped and an LAFB was performed using a dacron graft. The IMA was reimplanted in the body of the graft with a running 5-0 polypropylene suture. RESULTS: Mean operation and dissection times were 282.5 min (range, 270-310 min) and 123 min (range, 110-140 min), respectively, with a mean blood loss of 108 ml (range, 80-150 ml). Aortic clamping and anastomotic times were 123 min (range, 110-135 min) and 33 min (range, 24-45 min), respectively. The IMA reimplantation took 55 min (range, 45-70 min). At autopsy, all anastomoses were patent with no stenosis nor leak. CONCLUSION: Laparoscopic IMA reimplantation during laparoscopic aortobifemoral bypass is feasible.

Experimental laparoscopic aortobifemoral bypass with end-to-side aortic anastomosis.

The goal of this animal experiment was to demonstrate the feasibility of laparoscopic end-to-side aortic anastomosis, which is mandatory in certain cases presenting with aortoiliac occlusive disease. Six piglets were submitted to laparoscopic approach of the aortoiliac vessels using the "apron" technique. After clamping the infrarenal aorta with a laparoscopic Satinsky clamp, a 3-cm end-to-side laparoscopic aortic anastomosis was constructed. Mean operative and dissection times were 198 (170-240) and 92 (75-105) min, respectively, with a mean blood loss of 86 (50-120) mL. Mean preoperative and postoperative hematocrits were 38 (3448) and 38 (34-46). Aortic cross-clamp and anastomotic times were 51 (40-65) and 44 (35-60) min, respectively. No extra sutures were needed to secure the anastomoses. At autopsy, all the anastomoses were patent without stenoses. Results indicate the feasibility of laparoscopic aortobifemoral bypass with an end-to-side aortic anastomosis.

Laparoscopic aorto-iliac surgery: present status and future perspectives.

Over the past few years, the concept of "minimally invasive surgery" has generated a significant interest in the field of cardiovascular surgery. Congenital heart diseases such as patent ductus arteriosus, vascular ring or atrial septal defect have been treated using video-assisted technology. Although patients have undergone mitral valve replacement and repair, the focus of interest in the development of video-assisted cardiac surgery is in the treatment of coronary artery disease.

Totally laparoscopic aortobifemoral bypass: a review of 10 patients.

The main purpose of this study is to evaluate the feasibility of totally laparoscopic aortobifemoral bypass for occlusive aortoiliac disease. Ten patients who had incapacitating claudication have been included to date in this investigation. We have designed a transabdominal retroperitoneal technique that allows performance of the procedure without the problems associated with retraction of intraperitoneal organs. During the study, surgery time decreased from 510 to 245 min. Mean total aortic clamping time was 121 min, and the mean time required to perform the aortic anastomosis was 66 min. Mean blood loss was 820 ml. Three patients needed conversion. Postoperative complications developed in three patients. One had an aortoureteral fistula, which needed reoperation; one experienced complications related to a retroaortic left renal vein; and the third had a mild compartment syndrome of the right leg. Totally laparoscopic aortobifemoral bypass is feasible. Laparoscopic aortobifemoral bypass appears to ease the patient's postoperative course and could become in the not so distant future part of the repertoire of the surgeon performing vascular surgery.

A new technique for laparoscopic aortobifemoral grafting in occlusive aortoiliac disease.

PURPOSE: This article describes an original laparoscopic technique that allows performance of aortobifemoral bypass grafting. METHODS: The technique described is the result of 6 years of in vitro and animal experimentation. It also represents the end result of prior clinical research with laparoscopy-assisted aortoiliac surgery and totally laparoscopic retroperitoneal aortobifemoral bypass grafting. The technique consists of the creation of a flap of retroperitoneum that is used to separate the intraperitoneal organs from the content of the retroperitoneal cavity. Surgery can then be conducted with no intrusion of any intraabdominal organ into the operative field. Another advantage is that the pneumoperitoneum is equally distributed among the two cavities. A conventional aortobifemoral bypass procedure is then performed with laparoscopic instrumentation. RESULTS: The described technique has been performed in three patients to date. The patients' intraoperative blood loss did not exceed 500 ml, and no complication arose. The intraoperative need for crystalloids was of the order of 3 L (almost half the quantity usually administered). The patients' analgesia requirement was low in these patients, and return to walking was rapid. They were sent home between the fourth and sixth postoperative days. CONCLUSIONS: The innovative technique described here is safe and appears to ease the patient's postoperative course. Data recovered from the multicenter study, which is now in its preliminary phase, should help answer numerous questions. We expect the procedure to be reproducible in other university centers that are participating in the trial.

Visual integration of data and basic motor skills under laparoscopy. Influence of 2-D and 3-D video-camera systems.

BACKGROUND: The qualities of visual perception and of motor reaction to the visual stimulus have never been studied in reference to the type of video-camera system (2-D vs 3-D) used during laparoscopy. METHODS: The study was designed in two parts. The first evaluated the ability of the eye to discriminate how objects are spaced relative to one another. The second investigated the motor reaction to the visual stimulus in an environment where depth was the preponderent cue. The tests were performed in a pelvi-trainer in which were inserted different modules built either for visual observation (Part 1) or for evaluation of motor ability (Part 2). Variables studied during Part 1 were the time required to do the test and the number of errors committed during its performance. The variable evaluated during Part 2 was the time needed to terminate the test. Each of these two parts of the study were completed alternating the 2-D and 3-D systems. A total of 304 observations were recorded. Statistics used were the paired t-test, the independent group t-test, and the Newman-Keuls multiple comparisons test. RESULTS: Results of Part 1 of the study confirm that visual perception varies significantly among individuals (n = 10) (p < 0.05) and that a true 3-D video-camera system facilitates visual perception when compared to a 2-D system (p < 0.001). Results of Part 2 of the study also show significant differences among participants (n = 9)(p < 0.05). The true 3-D system allowed significantly faster motor performances than the 2-D system (p < 0.001). CONCLUSION: Our experiment shows that the 3-D system allowed significant improvements in the execution of the evaluated parameters. Also noted were significant differences among participants in term of visual and motor skills.

The three-dimensional video system; an essential component of the endosurgical suite of the future.

Minimal access surgery has revolutionized the practice of surgery. It has been shown that patients may experience less postoperative discomfort, shorter hospitalization, and quicker recuperation. The centerpiece of this revolution resides in the development of optical equipment which allowed the surgeon and his or her assistants to visualize on two-dimensional (2-D) monitors the site of the procedure to be performed. However, as techniques become more complicated, there is more need for accurate depth perception. In other surgical disciplines like neurosurgery, otorhynolaryngology, and microvascular surgery, for instance, magnification is used to perform fine manipulations; to prevent loss of depth perception, microscopes are binocular. They permit stereoscopic vision with accurate depth perception. We have used and evaluated a three-dimensional (3-D) videocamera system, designed for laparoscopy, in an in vitro situation, in the experimental laboratory and clinically, and we report our experience in this chapter. We also discuss the rationale for use of 3-D video systems.