Pulse wave analysis of aortic pressure: diastole should also be considered.

BACKGROUND: : The systolic augmentation index (sAix), calculated from the central aortic pulse wave (reconstructed from the noninvasive recording of the radial pulse with applanation tonometry), is widely used as a simple index of central arterial stiffness, but has the disadvantage of also being influenced by the timing of the reflected with respect to the forward pressure wave, as shown by its inverse dependence on heart rate (HR). During diastole, the central aortic pulse also contains reflected waves, but their relationship to arterial stiffness and HR has not been studied. METHODS: : In 48 men and 45 women, all healthy, with ages ranging from 19 to 70 years, we measured pulse wave velocity (PWV, patients supine), a standard evaluator of arterial stiffness, and carried out radial applanation tonometry (patients sitting and supine). The impact of reflected waves on the diastolic part of the aortic pressure waveform was quantified in the form of a diastolic augmentation index (dAix). RESULTS: : Across ages, sexes, and body position, there was an inverse relationship between the sAix and the dAix. When PWV and HR were added as covariates to a prediction model including age, sex and body position as main factors, the sAix was directly related to PWV (P < 0.0001) and inversely to HR (P < 0.0001). With the same analysis, the dAix was inversely related to PWV (P < 0.0001) and independent of HR (P = 0.52). CONCLUSION: : The dAix has the same degree of linkage to arterial stiffness as the more conventional sAix, while being immune to the confounding effect of HR. The quantification of diastolic aortic pressure augmentation by reflected waves could be a useful adjunct to pulse wave analysis.

Decision-making in lumbar spinal stenosis: A survey on the influence of the morphology of the dural sac.

Surgical decision-making in lumbar spinal stenosis involves assessment of clinical parameters and the severity of the radiological stenosis. We suspected that surgeons based surgical decisions more on dural sac cross-sectional area (DSCA) than on the morphology of the dural sac. We carried out a survey among members of three European spine societies. The axial T2-weighted MR images from ten patients with varying degrees of DSCA and morphological grades according to the recently described morphological classification of lumbar spinal stenosis, with DSCA values disclosed in half the assessed images, were used for evaluation. We provided a clinical scenario to accompany the images, which were shown to 142 responding physicians, mainly orthopaedic surgeons but also some neurosurgeons and others directly involved in treating patients with spinal disorders. As the primary outcome we used the number of respondents who would proceed to surgery for a given DSCA or morphological grade. Substantial agreement among the respondents was observed, with severe or extreme stenosis as defined by the morphological grade leading to surgery. This decision was not dependent on the number of years in practice, medical density or specialty. Disclosing the DSCA did not alter operative decision-making. In all, 40 respondents (29%) had prior knowledge of the morphological grading system, but their responses showed no difference from those who had not. This study suggests that the participants were less influenced by DSCA than by the morphological appearance of the dural sac. Classifying lumbar spinal stenosis according to morphology rather than surface measurements appears to be consistent with current clinical practice.

Profound impact of uncomplicated pregnancy on diastolic, but not systolic pulse contour of aortic pressure

RESUME: L'objectif de cette étude était de déterminer l'impact de la grossesse non compliquée sur l'onde de pouls de la pression aortique centrale. Méthode 66 femmes au total avec une grossesse simple ont été réparties en trois groupes selon le stade de leur gestation: premier trimestre (T1, n=22), deuxième trimestre (T2, n=20) et troisième trimestre (T3, n=24). Le groupe contrôle (C, n=21) était constitué de femmes non enceintes, en bonne santé habituelle, prenant une contraception oestroprogestative. La tonométrie d'aplanation a été utilisée pour l'acquisition des ondes de pouls centrale un appareil disponible dans le commerce (SphygmoCor) permet l'enregistrement de l'onde de pouls périphérique avec un tonomètre d'aplanation de l'artère radiale au niveau du poignet, puis effectue sa transformation en sa forme centrale, grâce à une analyse de Fourrier et une fonction de transfert. L'influence des ondes réfléchies sur l'onde de pouls a été déterminée non seulement pendant la systole (augmentation systolique), comme on procède habituellement dans l'analyse de l'onde de pouls, mais aussi pendant la diastole (augmentation diastolique). Résultats Au cours de la grossesse, les pressions centrales systolique et diastolique sont restées inchangées et comparables aux valeurs mesurées chez les femmes qui ne sont pas enceintes. Dans le groupe contrôle, l'augmentation systolique s'élevait à 8.1±7.5% de la pression de pouls ; il n'y avait pas de différence statistiquement significative avec les valeurs obtenues chez les femmes enceintes, et ce, à n'importe quel stade de la grossesse (T1 : 4.6±11.4%, T2: 5.0±9.3%, T3 : 4.7±8.1%). Par contre, l'amplitude de l'augmentation diastolique diminuait avec la progression de la grossesse (C 6.5±2.4%, T1 : 5.2±3.1%, T2 : 3.8±2.6%; P=0.002 versus C; T3 : 2.3±2.0%; P<0.0001 versus C et P=0.004 versus T 1). Conclusion La grossesse ne modifie pas la forme de l'onde de pouls systolique centrale, ce qui implique de la part du système cardiovasculaire une adaptation fine à la demande croissante de flux sanguin, et ce, à tous les stades de la grossesse. Par contre, l'amplitude de l'onde de réflexion atteignant l'aorte pendant la diastole diminue progressivement au cours de la grossesse. Perspectives De récentes études montrent qu'une valeur anormalement haute de l'augmentation systolique de la pression centrale, comme on peut la déterminer avec la tonométrie d'aplanation, pourrait être un indice de trouble hypertensif de la grossesse débutant. Cette technique simple pourrait être d'autant plus facile à mettre en oeuvre si les valeurs normales pour l'augmentation systolique étaient indépendantes du stade de la grossesse, comme le suggèrent nos résultats, du moins pour les mesures prises en position assise.

Les cures hybrides des lésions anévrismales [Hybrid treatment of aortic aneurysms]

The hybrid treatment of aortic aneurysms is indicated in patients having the ostia of supra aortic or visceral branches taken in to the aneurysm. Indeed, these lesions are not eligible for classic endovascular treatment because the existing endoprostheses cannot provide perfusion of the side branches without inducing major endoleaks. The surgical technique consists of 2 steps: firstly, a by-pass between normal aorta and the major aortic branches involved in the aneurysm is performed to guarantee the perfusion of the organs such as brain, bowel, and after endoprosthesis deployment. Secondly, the endoprosthesis is deployed using the classical technique to isolate the aneurysm. The hybrid approach provides safe and reliable treatment of complex aortic aneurysms with mortality and morbidity rate far below the classical open surgery.

Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome.

Children with congenital heart disease (CHD) who survive surgery often present impaired neurodevelopment and qualitative brain anomalies. However, the impact of CHD on total or regional brain volumes only received little attention. We address this question in a sample of patients with 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition frequently associated with CHD. Sixty-one children, adolescents, and young adults with confirmed 22q11.2 deletion were included, as well as 80 healthy participants matched for age and gender. Subsequent subdivision of the patients group according to CHD yielded a subgroup of 27 patients with normal cardiac status and a subgroup of 26 patients who underwent cardiac surgery during their first years of life (eight patients with unclear status were excluded). Regional cortical volumes were extracted using an automated method and the association between regional cortical volumes, and CHD was examined within a three-condition fixed factor. Robust protection against type I error used Bonferroni correction. Smaller total cerebral volumes were observed in patients with CHD compared to both patients without CHD and controls. The pattern of bilateral regional reductions associated with CHD encompassed the superior parietal region, the precuneus, the fusiform gyrus, and the anterior cingulate cortex. Within patients, a significant reduction in the left parahippocampal, the right middle temporal, and the left superior frontal gyri was associated with CHD. The present results of global and regional volumetric reductions suggest a role for disturbed hemodynamic in the pathophysiology of brain alterations in patients with neurodevelopmental disease and cardiac malformations.

Sténose oesophagienne non-néoplasique: pas toujours si bénigne [Non-neoplastic esophageal stenosis: not always so benign].

Esophageal intramural pseudodiverticulosis is a rare pathology whose etiology is unknown, but which is frequently associated with three highly prevalent entities: esophageal reflux disease, esophageal candidosis and alcoholic esophagitis. With conservative treatment the course of these pathologies is usually benign. However, some severe cases are resistant to conservative treatment and may require more aggressive management. We here present the case of patient suffering from a severe esophagitis complicated by chronic mediastinitis with life-threatening repercussions, requiring esophagectomy as treatment.

Congenital tumors: imaging when life just begins.

BACKGROUND: The technical developments of imaging methods over the last 2 decades are changing our knowledge of perinatal oncology. Fetal ultrasound is usually the first imaging method used and thus constitutes the reference prenatal study, but MRI seems to be an excellent complementary method for evaluating the fetus. The widespread use of both techniques has increased the diagnosis rates of congenital tumors. During pregnancy and after birth, an accurate knowledge of the possibilities and limits of the different imaging techniques available would improve the information obtainable, thus helping the medical team to make the most appropriate decisions about therapy and to inform the family about the prognosis. CONCLUSION: In this review article, we describe the main congenital neoplasms, their prognosis and their imaging characteristics with the different pre- and postnatal imaging methods available.

Lésions endothéliales des ballons de contre-pulsion intra-aortique [Endothelial lesions caused by intra-aortic counterpulsation balloons]

Intra-aortic balloon pump (IABP) is the most frequently used mechanical circulatory support. Repeated trauma on the aortic wall has been reported as a cause of balloon perforation by endothelial denudation of atheromatous plaque. This study analyses the effect of IABP on the endothelium of the calf aorta. In 12 calves (mean weight: 72 +/- 6 kg) an IABP was inserted by femoral route and left during 6 hours on internal mode with a frequency of 80 cycles/min. The animals were sacrificed after the procedure (n = 4), at postoperative day (POD) 7 (n = 4), and at POD 14 (n = 4). In the aorta facing the balloon, nine transmural samples were taken proximally (n = 3), at mid height (n = 3) and distally (n = 3), for histological analysis of the percentage of aortic surface covered with endothelium. The percentage of aortic surface covered with endothelium at POD 0, 7 and 14 was proximally: 72.5 +/- 27.5%, 83.7 +/- 16.9% and 93.3 +/- 8.9% respectively; at mid-height: 50.8 +/- 30.7%, 65 +/- 25% and 95 +/- 5%; and distally: 31.4 +/- 20.1%, 48.3 +/- 34.4% and 85 +/- 10%. A large portion of the aortic endothelium is abraded after 6 hours of IAB pumping. This effect is more important at the distal level of the aorta. After two weeks, most of the endothelium has regenerated.

Aortobronchial and aortoesophageal fistulae as risk factors in surgery of descending thoracic aortic aneurysms.

OBJECTIVE: Assess outcome of patients with descending thoracic aortic aneurysms complicated by aortobronchial and aortoesophageal fistulae in comparison to patients undergoing repair of aortic aneurysms without fistulae. METHODS: In a consecutive series of 145 patients (age 60 +/- 12 years) with repair of descending thoracic and thoracoabdominal aortic aneurysms, 11 patients (8%; age 63 +/- 9; NS) primarily presented for hematemesis and/or hemoptysis. In 8/11 patients (73%) an aortobronchial fistula was identified, and 3/11 patients (27%) suffered from an aortoesophageal fistula. Five of 11 patients (45%) had undergone previous aortic surgery in the same region. RESULTS: Extent of aortic segments (range 1-8) replaced was 3.1 +/- 1.4 for all versus 2.6 +/- 0.9 for fistulae (NS). Aortic cross clamp time was 38 +/- 22 min for all versus 45 +/- 15 min for fistulae (NS). Mortality at 30 days was 18/145 (12%) for all versus 16/134 (12%) without fistulae versus 2/11 (18%) with fistulae (NS). Paraparesis and or paraplegia was observed in 11/145 (8%) for all versus 10/134 (7%) without fistulae versus 1/11 (9%) for cases with fistulae (NS). Nine additional patients died after hospital discharge, seven without fistulae and two with fistulae (days 80, and 120) bringing the 1-year mortality up to 23/134 (17%) without fistulae versus 4/11 (36%) with fistulae (NS). Further analysis shows that the 1-year mortality accounts for 1/8 patients (13%) with aorto-bronchial fistulae versus to 3/3 patients (100%) with aorto-esophageal fistulae (esophageal versus bronchial fistula: P = 0.018; esophageal versus no fistula: P = 0.006). CONCLUSIONS: Outcome of patients suffering from descending thoracic aortic aneurysms complicated by aorto-bronchial fistulae can be similar to that without fistulae, whereas for cases complicated by aorto-esophageal fistulae the prognosis seems to remain poor even after successful hospital discharge.

16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.

OBJECTIVE:: Report of a 16q24.1 deletion in a premature newborn, demonstrating the usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn and multiple congenital malformations. DESIGN:: Descriptive case report. SETTING:: Genetic department and neonatal intensive care unit of a tertiary care children's hospital. INTERVENTIONS:: None. PATIENT:: We report the case of a preterm male infant, born at 26 wks of gestation. A cardiac malformation and bilateral hydronephrosis were diagnosed at 19 wks of gestation. Karyotype analysis was normal, and a 22q11.2 microdeletion was excluded by fluorescence in situ hybridization analysis. A cesarean section was performed due to fetal distress. The patient developed persistent pulmonary hypertension unresponsive to mechanical ventilation and nitric oxide treatment and expired at 16 hrs of life. MEASUREMENTS AND MAIN RESULTS:: An autopsy revealed partial atrioventricular canal malformation and showed bilateral dilation of the renal pelvocaliceal system with bilateral ureteral stenosis and annular pancreas. Array-based comparative genomic hybridization analysis (Agilent oligoNT 44K, Agilent Technologies, Santa Clara, CA) showed an interstitial microdeletion encompassing the forkhead box gene cluster in 16q24.1. Review of the pulmonary microscopic examination showed the characteristic features of alveolar capillary dysplasia with misalignment of pulmonary veins. Some features were less prominent due to the gestational age. CONCLUSIONS:: Our review of the literature shows that alveolar capillary dysplasia with misalignment of pulmonary veins is rare but probably underreported. Prematurity is not a usual presentation, and histologic features are difficult to interpret. In our case, array-based comparative genomic hybridization revealed a 16q24.1 deletion, leading to the final diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins. It emphasizes the usefulness of array-based comparative genomic hybridization analysis as a diagnostic tool with implications for both prognosis and management decisions in newborns with refractory persistent pulmonary hypertension and multiple congenital malformations.

Exclusion of lumbar arteries by aortic endovascular grafts: can angiography demonstrate sealing characteristics?

BACKGROUND: This study evaluates sealing characteristics of two designs of endovascular grafts by angiographic demonstration of exclusion of porcine lumbar arteries. METHODS: 6 endovascular grafts (3 self-expandable with integrated polyurethane wall versus 3 nitinol structures covered with polyester fabric) were implanted in 6 porcine aortae. Perfusion of lumbar arteries was assessed by angiography after implantation and by angiography and dissection at graft explantation after 4 +/- 2 months. Tissue healing was evaluated by light and scanning electron microscopy. RESULTS: Immediate exclusion of the lumbar arteries was achieved in 14/31 vessels (12 by polyurethane grafts and 2 by polyester grafts, p < 0.001). Follow-up angiography and dissection at explantation revealed perfusion of 30/31 lumbar arteries with a collateral network in most cases. Another reason for reperfusion of initially excluded branches was distention of the polyurethane grafts with resulting shortening allowing reperfusion of 8 of the 31 originally covered branches. Histological examination revealed a complete neointimal lining and a tight contact between endovascular grafts and aorta. CONCLUSIONS: The immediate angiographic demonstration of exclusion of lumbar arteries predicts sealing characteristics of endovascular grafts. Later angiographic reappearance is due to development of a collateral network and possible shortening of self-expandable devices.

Assessment of a new MRI classification of spinal stenosis based on cross-sectional morphology of the dural sac : FM2

Introduction: Quantitative measures of degree of lumbar spinal stenosis (LSS) such as antero-posterior diameter of the canal or dural sac cross sectional area vary widely and do not correlate with clinical symptoms or results of surgical decompression. In an effort to improve quantification of stenosis we have developed a grading system based on the morphology of the dural sac and its contents as seen on T2 axial images. The grading comprises seven categories ranging form normal to the most severe stenosis and takes into account the ratio of rootlet/CSF content. Material and methods: Fifty T2 axial MRI images taken at disc level from twenty seven symptomatic lumbar spinal stenosis patients who underwent decompressive surgery were classified into seven categories by five observers and reclassified 2 weeks later by the same investigators. Intra- and inter-observer reliability of the classification were assessed using Cohen's and Fleiss' kappa statistics, respectively. Results: Generally, the morphology grading system itself was well adopted by the observers. Its success in application is strongly influenced by the identification of the dural sac. The average intraobserver Cohen's kappa was 0.53 ± 0.2. The inter-observer Fleiss' kappa was 0.38 ± 0.02 in the first rating and 0.3 ± 0.03 in the second rating repeated after two weeks. Discussion: In this attempt, the teaching of the observers was limited to an introduction to the general idea of the morphology grading system and one example MRI image per category. The identification of the dimension of the dural sac may be a difficult issue in absence of complete T1 T2 MRI image series as it was the case here. The similarity of the CSF to possibly present fat on T2 images was the main reason of mismatch in the assignment of the cases to a category. The Fleiss correlation factors of the five observers are fair and the proposed morphology grading system is promising.

Zapfen-Stäbchen-Dystrophie durch eine neue reinerbige RPE65-Mutation in Leberscher kongenitaler Amaurose Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis.

Background: The aim of this study was to describe an unexpected phenotype in a family with Leber congenital amaurosis (LCA) due to a retinal pigment epithelium-specific protein 65 kDa (RPE65) homozygous mutation. History and Signs: We analyzed a family from Yemen in which 3 individuals were affected with LCA. Linkage analysis using markers flanking the known LCA genes was done, followed by direct sequencing of RPE65. Therapy and Outcome: Severe visual impairment and night blindness were observed during infancy. We observed photophobia only in the 8-year-old patient. The youngest affected had bilateral hyperopia of + 3.50 and visual acuity of 1/60. The oldest two had visual acuity limited to hand movements in the right eye (OD) and counting fingers in the left eye (OS) for the oldest and of 5/60 OD, 6/60 OS for the other. They showed disc pallor, attenuated vessels, white flecks in the retina mid-periphery and bull's eye maculopathy. ERGs of the oldest child were completely unresponsive. Genomic sequencing identified a novel homozygous missense mutation, IVS2-3C > G, in the second RPE65 intron. Conclusions: We identified a novel LCA-related homozygous RPE65 mutation associated with a severe clinical presentation including an early and severe cone dysfunction. This is in contrast with the presentation associated with other RPE65 mutations predominantly causing rod-cone dystrophy with residual visual function.