Atypical Kawasaki disease with peripheral gangrene and myocardial infarction: therapeutic implications.

We describe a 2-month-old girl with atypical Kawasaki disease (KD) complicated by peripheral gangrene and myocardial infarction. Peripheral ischaemia leading to gangrene is a rare but serious complication of KD in infants younger than 7 months of age. Treatment has been targeted at reducing arterial inflammation, arteriospasm and thrombosis. We report the first patient with incomplete KD and peripheral ischaemia in whom therapy with prostaglandin E1 (PGE1) as vasodilating and antithrombotic agent appeared successful, restoring hand and foot perfusion without significant long-term sequelae. However, PGE1 could have supported development of myocardial infarction by shunting blood away from ischaemic areas distal to a giant coronary artery aneurysm with beginning thrombosis. CONCLUSION. Atypical KD with peripheral gangrene appears to react favourably to treatment with PGE1, but needs careful monitoring to detect early signs of cardiac ischaemia.

Drawback of aortoplasty for aneurysm of the ascending aorta associated with aortic valve disease.

BACKGROUND: Aortoplasty has been advocated for moderate dilatation of the ascending aorta associated with aortic valve disease. We report our results with this conservative approach. METHODS: Seventeen consecutive patients with unsupported aortoplasty were reviewed. Twelve patients had aortic valve regurgitation and 5 had stenosis. The aortic wall was analyzed histologically in 14 patients. Follow-up was complete, with a mean time of 6 years (range, 2.3 to 10.5 years). RESULTS: Two patients among the 15 hospital survivors died during follow-up of causes unrelated to aortic pathology. Survival at 7 years was 86.7% (+/- 8.8%). Recurring aortic aneurysms developed in 4 patients after a mean time of 63 months, with an event-free survival at 7 years of 41% (+/- 21%). All of these 4 patients had aortic valve regurgitation and cystic medial necrosis. CONCLUSIONS: The recurrence rate of aneurysms after unsupported aortoplasty and aortic valve replacement is high in patients with aortic regurgitation. This strongly suggests that in these patients, the aortic dilatation is related to an underlying wall deficiency, associated with the aortic valve pathology, rather than to the hemodynamic stress imposed by the aortic valve disease.

Mood and nonmood components of perceived stress and exacerbation of Crohn's disease.

BACKGROUND: Diverse psychological factors are involved in the pathophysiology of stress. In order to devise effective intervention strategies, it is important to elucidate which factors play the most important role in the association between psychological stress and exacerbation of Crohn's disease (CD). We hypothesized that the association between perceived stress and exacerbation of CD would remain after removal of mood and anxiety components, which are largely involved in stress perception. METHODS: In all, 468 adults with CD were recruited and followed in different hospitals and private practices of Switzerland for 18 months. At inclusion, patients completed the Perceived Stress Questionnaire and anxiety and depression were assessed using the Hospital Anxiety and Depression Scale. During the follow-up, gastroenterologists assessed whether patients presented with a CD exacerbation. By means of binary logistic regression analysis, we estimated the factor by which one standard deviation of perceived stress would increase the odds of exacerbation of CD with and without controlling for anxiety and depression. RESULTS: The odds of exacerbation of CD increased by 1.85 times (95% confidence interval 1.43-2.40, P < 0.001) for 1 standard deviation of perceived stress. After removing the anxiety and depression components, the residuals of perceived stress were no longer associated with exacerbation of CD. CONCLUSIONS: The association between perceived stress and exacerbation of CD was fully attributable to the mood components, specifically anxiety and depression. Future interventional studies should evaluate the treatment of anxiety and depression as a strategy for potential prevention of CD exacerbations.

Systemic-onset juvenile idiopathic arthritis: the changing life of a rare disease.

Systemic-onset juvenile idiopathic arthritis (SoJIA), sometimes called Still's disease, is a systemic inflammatory disease classified within the spectrum of juvenile idiopathic arthritis (JIA). It is an orphan disease with often a chronic course and a major impact on the affected children and their families. This disorder is unique in terms of clinical manifestations, prognosis and response to conventional immunosuppressants. The objectives of this review are to describe SoJIA and emphasise the recent advances in the pathogenesis and treatment, which have transformed the care and the prognosis of this potentially life-threatening paediatric condition.

Gastrointestinal disease following heart transplantation.

With advances in heart transplantation, a growing number of recipients are at risk of developing gastrointestinal disease. We reviewed our experience with gastrointestinal disease in 92 patients undergoing 93 heart transplants. All had follow-up, with the median time 4.8 years (range 0.5-9.6 years). During the period of the study we progressively adopted a policy of low immunosuppression aiming toward monotherapy with cyclosporine. Nineteen patients (20.6%) developed 28 diseases related to the gastrointestinal tract. Thirteen patients required 18 surgical interventions, five as emergencies: closure of a duodenal ulcer, five cholecystectomies (one with biliary tract drainage), a sigmoid resection for a diverticulitis with a colovesical fistula, a colostomy followed by a colostomy takedown for an iatrogenic colon perforation, appendectomy, two anorectal procedures, and six abdominal wall herniorrhaphies. At the onset of gastrointestinal disease, 8 patients were on standard triple-drug immunosuppression, all of them within 6 months of transplantation; 13 were on double-drug immunosuppression; and 7 were on cyclosporine alone. All the patients with perforations/fistulas were on steroids. Among the 11 infectious or potentially infectious diseases, 10 were on triple- or double-drug immunosuppression. One death, a patient who was on triple-drug immunosuppression, had a postmortem diagnosis of necrotic and hemorrhagic pancreatitis. Except for an incisional hernia following a laparoscopic cholecystectomy, there was no morbidity and, importantly, no septic complications. We concluded that a low immunosuppression policy is likely to be responsible for the low morbidity and mortality of posttransplant gastrointestinal disease, with a lower incidence of viscous perforation/fistula and infectious gastrointestinal disease.

Interventions hybrides et malformations cardiaques congénitales [Hybrid procedures in congenital heart disease]

La complexité croissante de la prise en charge des malformations cardiaques congénitales impose des interventions chirurgicales et des cathétérismes cardiaques interventionnels fréquents. Chacune de ces techniques a ces limitations propres. Les interventions hybrides associent les avantages de la chirurgie cardiaque et du cathétérisme interventionnel. Dans notre expérience, les thérapies hybrides permettent de diminuer le temps de circulation extracorporelle, de diminuer la morbidité des interventions chirurgicales, de raccourcir le séjour du patient aux soins intensifs. Pour certaines malformations cardiaques congénitales complexes pour lesquelles il n'existe pas de chirurgie ou de thérapie interventionnelle idéale, les interventions hybrides sont en train de s'imposer comme la prise en charge incontournable. Increasing complexity in management of congenital heart disease imposes more frequent surgeries and interventions. Each technique has its own limitations, which could impair the anticipated result. Hybrid procedures join the advantages of cardiac surgery and interventions, creating a synergy in the management of these patients with cardiac anomalies. In our experience, hybrid procedures shorten cardiopulmonary bypass, reduce morbidity of surgery and reduce duration of stay in the intensive care unit. For some complex congenital heart diseases for which there are no ideal surgical or interventional options, hybrid procedures are becoming increasingly important in their management. Finally hybrid procedures allow surgeons and cardiologist to achieve complex procedures that could not be possible in another way

Predictors for hospitalization and outpatient visits in patients with inflammatory bowel disease: results from the Swiss Inflammatory Bowel Disease Cohort Study.

OBJECTIVES: Patients with inflammatory bowel disease (IBD) have a high resource consumption, with considerable costs for the healthcare system. In a system with sparse resources, treatment is influenced not only by clinical judgement but also by resource consumption. We aimed to determine the resource consumption of IBD patients and to identify its significant predictors. MATERIALS AND METHODS: Data from the prospective Swiss Inflammatory Bowel Disease Cohort Study were analysed for the resource consumption endpoints hospitalization and outpatient consultations at enrolment [1187 patients; 41.1% ulcerative colitis (UC), 58.9% Crohn's disease (CD)] and at 1-year follow-up (794 patients). Predictors of interest were chosen through an expert panel and a review of the relevant literature. Logistic regressions were used for binary endpoints, and negative binomial regressions and zero-inflated Poisson regressions were used for count data. RESULTS: For CD, fistula, use of biologics and disease activity were significant predictors for hospitalization days (all P-values <0.001); age, sex, steroid therapy and biologics were significant predictors for the number of outpatient visits (P=0.0368, 0.023, 0.0002, 0.0003, respectively). For UC, biologics, C-reactive protein, smoke quitters, age and sex were significantly predictive for hospitalization days (P=0.0167, 0.0003, 0.0003, 0.0076 and 0.0175 respectively); disease activity and immunosuppressive therapy predicted the number of outpatient visits (P=0.0009 and 0.0017, respectively). The results of multivariate regressions are shown in detail. CONCLUSION: Several highly significant clinical predictors for resource consumption in IBD were identified that might be considered in medical decision-making. In terms of resource consumption and its predictors, CD and UC show a different behaviour.

Initial experience with hybrid surgery in congenital heart disease in a single center : P171

Introduction: A hybrid intervention is a joint procedure involving the interventional cardiologist and the cardiac surgeon. At our institution we have opted for this type of approach in congenital heart disease since 2005. We report here our initial experience. Cases: 1. A 3 year old boy with double aortic arch and multiple muscular ventricular septal defects (VSD),was readdressed for pulmonary band (PAB) removal and residual VSD closure after previous palliation. After surgical removal of the PAB, the surgeon provided a minimal transventricular access for placement of a 6mm Amplatzer® muscular VSD occluder by the cardiologist under transoesophageal guidance. The patient was extubated the same day and discharged after 5 days. 2. An 8 year old girl with Williams syndrome was followed for two large VSDs and severe peripheral pulmonary arteries (PA) stenosis. The membranous VSD was closed surgically, the muscular VSD during the same operation by direct placement of a 12 mm Amplatzer® muscular VSD occluder. During rewarming, balloon angioplasty of peripheral PA stenosis was achieved under fluoroscopy. Patient was extubated the following day and discharged after 8 days. 3. A 9 year old boy post tetralogy of Fallot repair had severe distal stenosis of the right ventricular to PA conduit.With patient on partial cardiopulmonary bypass, an incision was made on the conduit and a CP 8 Zig 16 stent placed on the stenosis. The child passed on full bypass and the definitive placement of the stent achieved. The child was extubated at the end of the intervention and discharged after 6 days. 4. A newborn presented at 2 days life with complex aortic arch anatomy: left aortic arch and right descending thoracic aorta perfused directly from a right arterial duct and left PA atresia. The arterial duct was stented with a Genesis XD stent dilated at 7mm. Two days later the cardiac surgeon made banded the right PA. The child was extubated after the operation and discharged a week later. Conclusion: Hybrid approach opens new ways of correction or palliation in congenital heart disease with encouraging results and less morbidity.

Genetic polymorphism of CCR5 gene and HIV disease: the heterozygous (CCR5/delta ccr5) genotype is neither essential nor sufficient for protection against disease progression. Swiss HIV Cohort.

Homozygous (delta ccr5/delta ccr5) and heterozygous (CCR5/delta ccr5) deletions in the beta-chemokine receptor 5 (CCR5) gene, which encodes for the major co-receptor for macrophage-tropic HIV-1 entry, have been implicated in resistance to HIV infection and in protection against disease progression, respectively. The CCR5/delta ccr5 genotype was found more frequently in long-term nonprogressors (LTNP) (31.0%) than in progressors (10.6%, p < 0.0001), in agreement with previous studies. Kaplan-Meier survival analyses showed that a slower progression of disease, i.e. higher proportion of subjects with CD4+ T cell counts > 500/microl (p = 0.0006) and a trend toward a slower progression to AIDS (p = 0.077), was associated with the CCR5/delta ccr5 genotype. However, when LTNP were analyzed separately, no significant differences in CD4+ T cell counts (p = 0.12) and viremia levels (p = 0.65) were observed between the wild-type (69% of LTNP) and the heterozygous (31.0%) genotypes. Therefore, there are other factors which play a major role in determining the status of nonprogression in the majority of LTNP. Furthermore, there was no evidence that the CCR5/delta ccr5 genotype was associated with different rates of disease progression in the group of progressors. Taken together, these results indicate that the CCR5/delta ccr5 genotype is neither essential nor sufficient for protection against the progression of HIV disease.

Personality traits, behavioral and psychological symptoms and cognitive decline in patients at an early stage of Alzheimer's disease

The aim of this doctoral thesis was to study personality characteristics of patients at an early stage of Alzheimer's disease (AD), and more specifically to describe personality and its changes over time, and to explore its possible links with psychological and symptoms (BPS) and cognitive level. The results were compared to those of a group of participants without cognitive disorder through three empirical studies. In the first study, the findings showed significant personality changes that follow a specific trend in the clinical group. The profil of personality changes showed an increase in Neuroticism and a decrease in Extraversion, Openess to experiences, and Conscientiousness over time. The second study highlighted that personality and BPS occur early in the cours of AD. Recognizing them as possible precoce signs of neurodegeneration may prove to be a key factor for early detection and intervention. In the third study, a significant association between personality changes and cognitive status was observed in the patients with incipient AD. Thus, changes in Neuroticism and Conscientiousness were linked with cognitive deterioration, whereas decreased Openness to experiences and Conscientiousness over time predicted loss of independence in daily functioning. Other well-known factors such as age, education level or civil status were taken into account to predict cognitive decline. The three studies suggested five important implications: (1) cost-effective screening should take into account premorbid and specific personality changes; (2) psycho-educative interventions should provide information on the possible personality changes and BPS that may occur at the beginning of the disease; (3) using personality traits alongside other variables in the future studies on prevention might help to better understand AD's etiology; (4) individual treatment plans (psychotherapeutic, social, and pharmacological) might be adapted to the specific changes in personality profiles; (5) more researches are needed to study the impact of social-cultural and lifestyle variables on the development of AD.

Maligne Hypertonie: Klinische Zeichen von 7 Patienten Malignant Hypertension: Clinical Manifestations of 7 Cases.

Background: Malignant hypertension is defined by marked systemic arterial hypertension with retinal haemorrhages, exudation or papilloedema. Due to the rarity of this disease and due to its non-specific symptoms and lesions, the diagnosis can be challenging. Patients and Methods We investigated the types of symptoms and ocular lesions observed with ocular fundus examination, ocular fundus photography, fluorescein angiography and optical coherence tomography in a small case series of 7 patients with malignant hypertension. Results: Median systolic blood pressure (BP) was 205 mmHg ± 21. Median diastolic BP was 150 mmHg ± 16. Decrease in visual acuity (6/7 patients) and scotoma (5/7) were the main symptoms and Elschnig spot, flamed shaped haemorrhage, serous retinal detachment, cotton wool spots and optic nerve oedema were the five most frequently observed lesions. A regression of lesions was observed after therapy of systemic hypertension. Conclusion: The association of multiple lesions strongly suggests malignant hypertension. However even in cases with only one lesion malignant hypertension should be kept in mind.

High rates of smoking especially in female Crohn's disease patients and low use of supportive measures to achieve smoking cessation : Data from the SwissIBD cohort study

BACKGROUND AND AIMS: Smoking is a crucial environmental factor in inflammatory bowel disease (IBD). However, knowledge on patient characteristics associated with smoking, time trends of smoking rates, gender differences and supportive measures to cease smoking provided by physicians is scarce. We aimed to address these questions in Swiss IBD patients. METHODS: Prospectively obtained data from patients participating in the Swiss IBD cohort study was analysed and compared to the general Swiss population (GSP) matched by age, sex and year. RESULTS: Among a total of 1770 IBD patients analysed (49.1% male), 29% are current smokers. More than twice as many patients with Crohn's disease (CD) are active smokers compared to ulcerative colitis (UC, 39.6% vs. 15.3%, p<0.001). In striking contrast to the GSP, significantly more women than men with CD smoke (42.8% vs. 35.8%, p=0.025), with also an overall significantly increased smoking rate compared to the GSP in women but not men. The vast majority of smoking IBD patients (90.5%) claim to never have received any support to achieve smoking cessation, significantly more in UC compared to CD. We identify a significantly negative association of smoking and primary sclerosing cholangitis, indicative of a protective effect. Psychological distress in CD is significantly higher in smokers compared to non-smokers, but does not differ in UC CONCLUSIONS: Despite well-established detrimental effects, smoking rates in CD are alarmingly high with persistent and stagnating elevations compared to the GSP, especially in female patients. Importantly, there appears to be an unacceptable underuse of supportive measures to achieve smoking cessation.

The difference of disease perception by juvenile idiopathic arthritis patients and their parents : analysis of the JAMAR questionnaire.

BACKGROUND: The JAMAR (Juvenile Arthritis Multidimensional Assessment Report) has been developed to evaluate the perception of the patient and his parents on different items: well-being, pain, functional status, quality of life, disease activity, disease course, side effects of medication, therapeutic compliance and satisfaction with illness outcome. Our aim was to compare disease's perception by JIA patients and their parents. METHODS: We included into the study 100 consecutive patients over 7 years of age. We asked both parent and child to complete the JAMAR questionnaire. For each patient we recorded demographic and disease related data. We examined the level of disagreement between children and parents for the quantitative items of the JAMAR: VAS Pain, VAS Disease Activity, VAS Well Being, Juvenile Arthritis Functional Score, HRQoL. Then we looked for a relation between discordance-rate and demographic and clinical variables. RESULTS: Children and parents' median scores for all five items were similar. Individual dyads agreement was low, with a large amount of pairs (80) discordant for at least one item. We found higher MD VAS and JADAS in more discordant dyads, suggesting that when the disease is more active discordance between child and parent increase. CONCLUSION: The JAMAR questionnaire is an important tool that helps clinicians to detect divergent child and parent's disease perceptions. It is essential that both patients and parents fill the JAMAR questionnaire for a complete clinical and psychosocial evaluation.

Value of renal cortical thickness as a predictor of renal function impairment in chronic renal disease patients

Objective: To determine the presence of linear relationship between renal cortical thickness, bipolar length, and parenchymal thickness in chronic kidney disease patients presenting with different estimated glomerular filtration rates (GFRs) and to assess the reproducibility of these measurements using ultrasonography. Materials and Methods: Ultrasonography was performed in 54 chronic renal failure patients. The scans were performed by two independent and blinded radiologists. The estimated GFR was calculated using the Cockcroft-Gault equation. Interobserver agreement was calculated and a linear correlation coefficient (r) was determined in order to establish the relationship between the different renal measurements and estimated GFR. Results: The correlation between GFR and measurements of renal cortical thickness, bipolar length, and parenchymal thickness was, respectively, moderate (r = 0.478; p < 0.001), poor (r = 0.380; p = 0.004), and poor (r = 0.277; p = 0.116). The interobserver agreement was considered excellent (0.754) for measurements of cortical thickness and bipolar length (0.833), and satisfactory for parenchymal thickness (0.523). Conclusion: The interobserver reproducibility for renal measurements obtained was good. A moderate correlation was observed between estimated GFR and cortical thickness, but bipolar length and parenchymal thickness were poorly correlated.