Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers.

The objective of this study was to evaluate the contribution of ultrasound scanning to the prenatal detection of trisomy 21 in a large unselected European population. Data from 19 congenital malformation registers in 11 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient. Routine serum screening was offered in four of the 11 countries and routine screening on the basis of maternal age amniocentesis in all. The results show that overall 53% of cases of trisomy 21 were detected prenatally with a range from 3% in Lithuania to 88% in Paris. Ninety-eight percent of women whose babies were diagnosed before 24 weeks gestation chose to terminate the pregnancy. Centres/countries that offer serum screening do not have a significantly higher detection rate of trisomy 21 when compared to those that offer maternal age amniocentesis and anomaly scanning only. Fifty percent of trisomy 21 cases were born to women aged 35 years or more. In conclusions, second trimester ultrasound plays an important role in the prenatal diagnosis of trisomy 21. Of those cases prenatally diagnosed, 64% of cases in women <35 years and 36% of those in women >or=35 years were detected because of an ultrasound finding. Ultrasound soft markers accounted for 84% of the scan diagnoses. There is evidence of increasing maternal age across Europe with 50% of cases of trisomy 21 born to women aged 35 years or more.

Clinical experience with adalimumab in a multicenter Swiss cohort of patients with Crohn's disease.

BACKGROUND: Controlled clinical trials have demonstrated the efficacy and safety of adalimumab in patients with moderate-to-severe Crohn's disease (CD), but there is, however, only limited long-term experience with adalimumab in daily practice. AIM: To assess the long-term effectiveness and safety of adalimumab in a multicenter cohort of practice-based patients with moderate-to-severe CD. METHODS: We retrospectively reviewed the charts of CD patients who received adalimumab over a 3-year period. Disease severity was scored using the Harvey-Bradshaw index (HBI). Remission was defined as an HBI of <or=4 and response as a reduction in the HBI of >3 points at evaluation compared to the baseline. Univariate logistic regression analysis was used to identify the predictive variables associated with response. RESULTS: The charts of 55 patients were reviewed; remission and response rates observed at weeks 4-6 were 52.7 and 83.6%, respectively. Remission was maintained at weeks 12, 24 and 52 in 89.6, 72.4 and 44.7% of patients, respectively. Remission and response rates were not influenced by smoking status, disease location or duration, the first month total dose, or previous infliximab therapy. The remission rate at weeks 4-6 was significantly higher in patients intolerant of infliximab as compared to those who lost response to this drug. Adalimumab was well tolerated overall. CONCLUSION: Adalimumab can be considered a suitable option in patients with moderate-to-severe CD, demonstrating sustained long-term effectiveness.

Religious beliefs in schizophrenia: Their relevance for adherence to treatment

The study examined how religious beliefs and practices impact upon medication and illness representations in chronic schizophrenia. One hundred three stabilized patients were included in Geneva's outpatient public psychiatric facility in Switzerland. Interviews were conducted to investigate spiritual and religious beliefs and religious practices and religious coping. Medication adherence was assessed through questions to patients and to their psychiatrists and by a systematic blood drug monitoring. Thirty-two percent of patients were partially or totally nonadherent to oral medication. Fifty-eight percent of patients were Christians, 2% Jewish, 3% Muslim, 4% Buddhist, 14% belonged to various minority or syncretic religious movements, and 19% had no religious affiliation. Two thirds of the total sample considered spirituality as very important or even essential in everyday life. Fifty-seven percent of patients had a representation of their illness directly influenced by their spiritual beliefs (positively in 31% and negatively in 26%). Religious representations of illness were prominent in nonadherent patients. Thirty-one percent of nonadherent patients and 27% of partially adherent patients underlined an incompatibility or contradiction between their religion and taking medication, versus 8% of adherent patients. Religion and spirituality contribute to shaping representations of disease and attitudes toward medical treatment in patients with schizophrenia. This dimension should be on the agenda of psychiatrists working with patients with schizophrenia.

Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries.

OBJECTIVES: To evaluate prenatal diagnosis of congenital heart diseases by ultrasound investigation in well-defined European populations. DESIGN: Data from 20 registries of congenital malformations in 12 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient routinely performed. RESULTS: There were 2454 cases with congenital heart disease with an overall prenatal detection rate of 25%. Termination of pregnancy was performed in 293 cases (12%). There was considerable variation in prenatal detection rate between regions, with the lowest detection rates being in countries without ultrasound screening (11%) and in Eastern European countries (Croatia, Lithuania and Ukraine; 8%). In Western European countries with ultrasound screening, detection rate ranged from 19-48%. There was a significant difference in prenatal detection rate and proportion of induced abortions between isolated congenital heart disease and congenital heart disease associated with chromosome anomalies, multiple malformations and syndromes (P < 0.0001). There were 1694 cases with isolated congenital heart disease of which 16% were diagnosed prenatally. Malformations affecting the size of the ventricles were detected prenatally in half of the cases. CONCLUSIONS: Prenatal detection rate of congenital heart disease varies significantly between countries even with the same screening recommendations. The presence of associated malformations significantly increases the prenatal detection rate.

The Lausanne experience with the Wichita fusion nail for arthrodesis of the knee

Background: Arthrodesis of the knee by intramedullary fixation hasbeen reported to have a higher rate of success than external fixationor compression plating. Antegrade nailing however can lead to complicationsdue to the different diameters of the medullary canals, fracturesduring insertion, poor rotational stability, breakage of the IM-nailand insufficient compression at the fusion site.Method: This retrospective study reports all knee fusions performedby the same orthopaedic surgeon with the Wichita (Stryker) fusion nail(WFN) from 2004 to 2010. The Wichita nail is a short nail with a deviceat the knee which allows for coupling of differently sized and interlockedfemoral and tibial components and at the same time for compression.Results: We report of 18 patients with a mean follow up of 28 months(range 3-71 months). Infected TKA was the most common indicationfor arthrodesis in 9 cases. The remaining reasons included asepticfailed TKA in 3 cases, 2 patients after fracture, 1 patient with neurologicalinstability after knee dislocation, 1 patient after tumoral resectionand 1 non union after failed arthrodesis with long antegrade nail.Finally 1 patient with bilateral congenital knee dislocation operated onboth sides. As expected, patients receiving the WFN had undergonea large number of previous knee surgeries with a mean of 3.8 (range0-8) procedures per patient. The complication rate was 27% (5 of 18).Two patients had persistent pain requiring revision surgery to increasestability with plating. One case of periprosthetic fracture needed openreduction and internal fixation. 2 patients with superficial hematomawere treated one with open drainage and the other with physiotherapy.Infection was erradicated in all septic cases, we found no new infectionand the fusion rate was 100%.Conclusion: The results in these often difficult cases are satisfyingand we think that this technique is a valid alternative to the otherknown techniques of knee fusion in patients with a poor bone stockand fragile soft tissues.

Anti-TNF-alpha therapy in patients with chronic non-infectious uveitis: the experience of Jules Gonin Eye Hospital.

BACKGROUND: The purpose of this study is to describe the experience of Jules Gonin Eye Hospital on the long-term outcome of anti-TNF-alpha therapy in chronic non-infectious uveitis. PATIENTS AND METHODS: We identified and followed those patients with chronic non-infectious uveitis who received systemic anti-TNF-alpha therapy. Anti-TNF-alpha therapy was administered when no response had been obtained with classical immunosuppressive therapies or in the presence of severe rheumatoid disease. RESULTS: Fifteen patients (28 eyes), 7 male and 8 female (mean age, 43 years; range: 7 to 70 years) were identified. Diagnoses included HLA-B27-associated anterior uveitis (n = 4), sarcoidosis (n = 2), juvenile idiopathic arthritis (n = 2), idiopathic retinal vasculitis with uveitis (n = 2), pars planitis (n = 2), Adamantiades-Behçet disease (n = 1), birdshot retinochoroidopathy (n = 1), and Crohn's disease (n = 1). Mean duration of ocular disease was 8 years (range: 1 to 29 years). Treatment with infliximab (n = 11), etanercept (n = 2), or adalimumab (n = 2) was initiated. One patient with etanercept was switched to infliximab due to lack of clinical response. Clinical and angiographic regression of uveitis was observed within the first two months of therapy in all patients, and was maintained throughout the entire follow-up period (mean 18 months; range: 3 - 72 months). Recurrence was observed in 3 patients, and resolved after adjustment of therapy. Adverse events were recorded in only one patient (arterial hypotension). CONCLUSIONS: In this series of patients with chronic non-infectious uveitis, anti-TNF-alpha therapy was effective and safe. Further clinical studies are needed to determine an adequate duration of therapy.

Pediatric tracheotomy: a 30-year experience.

BACKGROUND/PURPOSE: The aim of this study was to investigate changes of pediatric tracheotomy practice over time. METHODS: A retrospective analysis of all tracheotomies at the University Children's Hospital Zurich from January 1990 to December 2009 was performed. Data analyzed included the indication for tracheotomy, patient comorbidities, age, duration of cannulation, and complications. The second part of the study consisted of comparing our results with data from an earlier study done at the same institution by Simma et al. (Eur J Pediatr 1994;153:291-296) reviewing the patients with tracheotomies treated from 1979 to 1989. RESULTS: Between 1990 and 2009, 119 patients were included. The indication for tracheotomy was airway obstruction in 70% and prolonged ventilation in 30%. 70% of the patients were operated on before 1 year of age. Serious postoperative complications occurred in 25 patients (23%). There was one death related to tracheotomy. Successful decannulation was achieved in 60%, on average 28 months after tracheotomy. The decannulation rate in patients with airway obstruction was 74% compared to 52% for the patients in prolonged ventilation group; a statistically significant difference was observed (p < 0.05). The longitudinal analysis showed an increase of indications for prolonged ventilation and a trend toward decreased tracheotomy complications. CONCLUSION: Over 30 years, a shift in the indications of pediatric tracheotomy, with an increasing number of procedures performed for prolonged ventilation, was found. The tracheotomy-related mortality was under 1%. Tracheotomy remains a valid and safe option for pediatric patients. Level of evidence 2c.

External beam radiotherapy ± chemotherapy in the treatment of anal canal cancer: a single-institute long-term experience on 100 patients.

One-hundred patients treated with curative radiotherapy (RT) ± chemotherapy (CT) for an anal canal carcinoma (T1-4N0-3M0) were retrospectively analyzed. Five- and 10-year local control (LC) rates were 73% and 67%, respectively. Acute and late G3-G4 toxicity rates were 32% and 12%, respectively. Two patients underwent a colostomy for a G4 anal toxicity. This study confirms the outcomes of RT ± CT in the treatment of anal canal cancer. Concomitant CT and LC statistically influenced Overall Survival and Colostomy-Free Survival. CT also statistically reduced the risk of nodal relapse. High rates of acute skin toxicity impose tailored volumes and techniques of irradiation.

Renal arteries: navigator-gated balanced fast field-echo projection MR angiography with aortic spin labeling: initial experience.

A cardiac-triggered free-breathing three-dimensional balanced fast field-echo projection magnetic resonance (MR) angiographic sequence with a two-dimensional pencil-beam aortic labeling pulse was developed for the renal arteries. For data acquisition during free breathing in eight healthy adults and seven consecutive patients with renal artery disease, real-time navigator technology was implemented. This technique allows high-spatial-resolution and high-contrast renal MR angiography and visualization of renal artery stenosis without exogenous contrast agent or breath hold. Initial promising results warrant larger clinical studies.

The experience of transplantation for patients and their significant ones: A difficult encounter of two worlds

Objectives This paper reports on a longitudinal qualitative study exploring concerns of 60 patients before and after transplantation. Methods Semi-structured interviews were conducted without time constraints in a protected space out of the hospital. Qualitative analysis was performed. Results Prior to transplantation, all patients talked freely about negative feelings, stigmatisation, being misunderstood by others, loneliness and culpability caused by increasing physical dependency or abandoned roles. They mentioned alternative ways to cope (magic, spirituality), and even expressed their right to let go. In a subset of 13 patients, significant ones allowed themselves in the interview, or were integrated on the request of the patients. In this modified setting, two illness-worlds were confronted. If common themes were mentioned (e.g., modified life plans, restricted space, physical and psychological barriers), they were experienced differently. Fear of transplantation or guilt towards the donors was overtly expressed, often for the first time. Mutual hiding of anxiety in order to protect loved ones or to prevent loss of control was disclosed. The significant ones talked about accumulated stress and exhaustion related to the physical degradation of the patient, fear of the unpredictable evolution of illness and financial problems, and stressed their difficulty to adapt adequately to the fluctuating state of the patient. After transplantation, other themes emerged, where difficulty in disclosure was observed: intensive care and near death experiences, being a transplanted person, debt to the donor and his/her family, fear of rejection. Conclusions With the self-imposed strategy of hiding concerns to protect one another, a discrepancy between two illness-worlds was created. When concerns were confronted during the interviews, a new mutual understanding emerged. Patients and their families stated the need for sharing concerns in the course of illness.