Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT.

OBJECTIVE Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. If associated with a monoclonal gammopathy of unknown significance (MGUS), the outcome is unfavorable: the majority of these patients die within 1 to 5 years of respiratory failure. This study aims to qualitatively assess the long-term treatment effect of high-dose melphalan (HDM) followed by autologous stem cell transplantation (SCT) in a series of 8 patients with SLONM-MGUS. METHODS We performed a retrospective case series study (n = 8) on the long-term (1-8 years) treatment effect of HDM followed by autologous SCT (HDM-SCT) on survival, muscle strength, and functional capacities. RESULTS Seven patients showed a lasting moderate-good clinical response, 2 of them after the second HDM-SCT. All of them had a complete, a very good partial, or a partial hematologic response. One patient showed no clinical or hematologic response and died. CONCLUSIONS This case series shows the positive effect of HDM-SCT in this rare disorder. Factors that may portend an unfavorable outcome are a long disease course before the hematologic treatment and a poor hematologic response. Age at onset, level and type of M protein (κ vs λ), and severity of muscle weakness were not associated with a specific outcome. CLASSIFICATION OF EVIDENCE This study provides Class IV evidence that for patients with SLONM-MGUS, HDM-SCT increases the probability of survival and functional improvement.

Echinococcus P29 antigen: molecular characterization and implication on post-surgery follow-up of CE patients infected with different species of the Echinococcus granulosus complex.

The protein P29 is a potential serological marker for post-treatment monitoring of cystic echinococcosis (CE) especially in young patients. We now have demonstrated that P29 is encoded in the Echinococcus genus by a single gene consisting of 7 exons spanning 1.2 kb of DNA. Variability of the p29 gene at inter- and intra-species level was assessed with 50 cDNA and 280 genomic DNA clones isolated from different E. granulosus s.l. isolates (E. granulosus sensu stricto (G1), E. equinus (G4), E. ortleppi (G5), E. canadensis (G6), E. canadensis (G7) and E. canadensis (G10)) as well as four E. multilocularis isolates. Scarce interspecies polymorphism at the p29 locus was observed and affected predominantly E. granulosus s.s. (G1), where we identified two alleles (A1 and A2) coding for identical P29 proteins and yielding in three genotypes (A1/A1, A2/A2 and A1/A2). Genotypic frequencies expected under Hardy-Weinberg equilibrium revealed a high rate of heterozygosity (47%) that strongly supports the hypothesis that E. granulosus s.s. (G1) is predominantly outbreeding. Comparative sequence analyses of the complete p29 gene showed that phylogenetic relationships within the genus Echinococcus were in agreement with those of previous nuclear gene studies. At the protein level, the deduced P29 amino acid (AA) sequences exhibited a high level of conservation, ranging from 97.9% AA sequence identity among the whole E. granulosus s.l. group to 99.58% identity among E. multilocularis isolates. We showed that P29 proteins of these two species differ by three AA substitutions without implication for antigenicity. In Western-blot analyses, serum antibodies from a human CE patient infected with E. canadensis (G6) strongly reacted with recombinant P29 from E. granulosus s.s. (G1) (recEg(G1)P29). In the same line, human anti-Eg(G1)P29 antibodies bound to recEcnd(G6)P29. Thus, minor AA sequence variations appear not to impair the prognostic serological use of P29.

Clinical performance of a sutureless aortic bioprosthesis: five-year results of the 3f Enable long-term follow-up study.

OBJECTIVE Sutureless valves are designed to facilitate surgical implantation, including less-invasive techniques in aortic valve replacement, by maintaining surgical precision of implantation compared with transcatheter techniques. Long-term clinical experience with sutureless valves is lacking. We report the 5-year follow-up results of an international, prospective, multicenter study evaluating the clinical performance and safety of the 3f Enable valve (Medtronic Inc, Minneapolis, Minn). METHODS Between March 2007 and December 2009, 141 patients (54 male; mean age, 76.1±5.7 years) undergoing aortic valve replacement with the 3f Enable valve were enrolled in 10 European sites. The mean follow-up was 2.76 years (range, 2 days to 5.1 years; total, 388.7 patient-years). Echocardiographic valvular hemodynamic and morphologic analyses were performed by an independent core laboratory. RESULTS The mean systolic gradient was 10.4±4.4 mm Hg at discharge and 7.7±4.1 mm Hg at 5 years. The mean effective orifice area was 1.7±0.5 cm2 at discharge and 1.6±0.2 cm2 at 5 years. Freedom from all-cause and valve-related mortality was 87.6%±2.9% and 96.8%±1.6% at 1 year (113 patients at risk) and 77.0%±7.5% and 93.8%±4.8% at 5 years (24 patients at risk), respectively. Six patients underwent reoperation (4 because of major paravalvular leakage and 2 because of endocarditis). Freedom from reoperation was 95.4%±1.9% at 1 year and 95.4%±6.1% at 5 years. No structural valve deterioration occurred during the follow-up period. CONCLUSIONS The sutureless 3f Enable valve represents a safe and effective treatment for aortic valve stenosis, providing an excellent hemodynamic profile. This study represents the longest follow-up study for a sutureless bioprosthesis. Sutureless valves may become an option for all patients with indicated biological aortic valve replacement.

Integration of adult patients with phenylketonuria into professional life: long-term follow-up of 27 patients in a single centre in Switzerland

BACKGROUND Neonatal screening and treatment of phenylketonuria (PKU) prevent the development of neurocognitive impairment. The degree of dysfunction may be related to metabolic control and responsible for a hampered school career. METHODS This was a retrospective study from a single metabolic unit of a Swiss University Hospital. The time point of diagnosis and all Phenylalanin (Phe) concentrations during the follow-up were recorded. The primary outcome was integration into professional life defined as no professional studies versus accomplished apprenticeship versus high school diploma/university. Phe levels were correlated with professional outcome. The control group consisted of the patients' healthy parents and siblings. RESULTS A total of 27 patients (13 females, 14 males) were included in the study. The mean (SD) follow-up period was 25.1 (7.6) years. The control group consisted of 57 subjects. Overall, 23 patients were diagnosed by neonatal screening, and 4 patients were diagnosed later. All 4 were in the non-professional study group. Compared with the controls there were significantly more patients in the non-professional study group (26% vs 9%, p <0.05) and significantly less in the accomplished apprenticeship group (59% vs 82%; p <0.04). After exclusion of the patients with late diagnosis no significant differences were found with regard to the professional integration between patients and controls. Significant differences in Phe-levels between the three groups could be documented between 2-10 years of age with the highest levels in the non-professional study followed by the accomplished apprenticeship and the high school diploma group (p <0.01). CONCLUSION Patients who are diagnosed by neonatal screening and are consequently cared for are able to accomplish an apprenticeship or a high school diploma.

Enduring effects of evidence-based psychotherapies in acute depression and anxiety disorders versus treatment as usual at follow-up — A longitudinal meta-analysis

This meta-analysis examined the enduring efficacy of evidence-based psychotherapies (EBP) in comparison to treatment as usual (TAU) by examining effects from termination to follow-up for acute anxiety and depression in an adult outpatient population. It was hypothesized that EBPs might extend their efficacy at follow-up assessment (Tolin, 2010). METHOD: Longitudinal multilevel meta-analyses were conducted that examined the magnitude of difference between EBP and TAU. Targeted (disorder-specific) outcomes were examined, along with dropout rates at follow-up assessments. RESULTS: A total of 15 comparisons (including 30 repeated effect sizes [ES]) were included in this meta-analysis (average of 8.9 month follow-up). Small to moderate ES differences were found to be in favor of EBPs at 0-4 month assessments (Hedges' g=0.40) and up to 12-18 month assessments (g=0.20), indicating no extended efficacy at follow-up. However, the TAU-conditions were heterogeneous, ranging from absence of minimal mental health treatment to legitimate psychotherapeutic interventions provided by trained professionals, the latter of which resulted in smaller ES differences. Furthermore, samples where substance use comorbidities were not actively excluded indicated smaller ES differences. TAU-conditions produced slightly higher dropout rates than EBP-conditions. CONCLUSION: Findings indicate small and no extended superiority of EBP for acute depression and anxiety disorders in comparison to TAU at follow-up assessment. There are a limited number of studies investigating the transportability and lasting efficacy of EBP compared to TAU, especially to TAU with equivalent conditions between treatment groups.

Follow-up care of adolescent survivors of childhood cancer: The role of health beliefs

BACKGROUND Little is known about follow-up care attendance of adolescent survivors of childhood cancer, and which factors foster or hinder attendance. Attending follow-up care is especially important for adolescent survivors to allow for a successful transition into adult care. We aimed to (i) describe the proportion of adolescent survivors attending follow-up care; (ii) describe adolescents' health beliefs; and (iii) identify the association of health beliefs, demographic, and medical factors with follow-up care attendance. PROCEDURE Of 696 contacted adolescent survivors diagnosed with cancer at ≤16 years of age, ≥5 years after diagnosis, and aged 16-21 years at study, 465 (66.8%) completed the Swiss Childhood Cancer Survivor Study questionnaire. We assessed follow-up care attendance and health beliefs, and extracted demographic and medical information from the Swiss Childhood Cancer Registry. Cross-sectional data were analyzed using descriptive statistics and logistic regression models. RESULTS Overall, 56% of survivors reported attending follow-up care. Most survivors (80%) rated their susceptibility for late effects as low and believed that follow-up care may detect and prevent late effects (92%). Few (13%) believed that follow-up care is not necessary. Two health beliefs were associated with follow-up care attendance (perceived benefits: odds ratio [OR]: 1.56; 95% confidence interval [CI]: 1.07-2.27; perceived barriers: OR: 0.70; 95%CI: 0.50-1.00). CONCLUSIONS We show that health beliefs are associated with actual follow-up care attendance of adolescent survivors of childhood cancer. A successful model of health promotion in adolescent survivors should, therefore, highlight the benefits and address the barriers to keep adolescent survivors in follow-up care. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc.

Long-term follow-up of maxillary fixed retention: survival rate and periodontal health.

AIM To assess the long-term success of maxillary fixed retainers, investigate their effect on gingival health, and analyse the survival rate after a mean period of 7 years (minimum 5 years) in retention. SUBJECTS AND METHODS Forty one subjects were included in the study A clinical examination of the upper canine to canine region including gingival index (GI), plaque index, probing depth, and bleeding on probing (BOP) was performed. Intraoral photographs and dental impressions were taken and irregularity index was determined and compared to the values of the immediate post-therapeutic values; failures of retainers were also recorded and analysed. RESULTS The mean observed retention time was 7 years and 5 months. Irregularity index: Changes occurring during retention were statistically different between the lateral incisors bonded to retainers and the canines not bonded to retainers. Only six patients showed changes in irregularity index of the lateral incisors in spite of a retainer in place. Periodontal health: The median value of the GI for all teeth bonded to upper retainers was 1.10 and the median value of the plaque index (PI) was 1.14. PI was not a significant predictor of GI. The overall BOP of the bonded teeth to the retainer for each participant was 22.3 per cent. Failure rate: Twenty-eight out of 41 patients experienced no failure of the upper bonded retainer (68.3 per cent). Detachments were the most frequent incidents. CONCLUSION Although plaque accumulation might be increased in patients with already poor oral hygiene, maxillary bonded retainers caused no significant negative effects on the periodontal health.

Optimization of Optical Follow-up Strategies Based on Covariance Analysis

An in-depth study, using simulations and covariance analysis, is performed to identify the optimal sequence of observations to obtain the most accurate orbit propagation. The accuracy of the results of an orbit determination/ improvement process depends on: tracklet length, number of observations, type of orbit, astrometric error, time interval between tracklets and observation geometry. The latter depends on the position of the object along its orbit and the location of the observing station. This covariance analysis aims to optimize the observation strategy taking into account the influence of the orbit shape, of the relative object-observer geometry and the interval between observations.

A covariance analysis to optimize the optical follow-up strategies

The Astronomical Institute of the University of Bern (AIUB) is conducting several search campaigns for space debris using optical sensors. The debris objects are discovered during systematic survey observations. In general, the result of a discovery consists in only a short observation arc, or tracklet, which is used to perform a first orbit determination in order to be able to observe t he object again in subsequent follow-up observations. The additional observations are used in the orbit improvement process to obtain accurate orbits to be included in a catalogue. In order to obtain the most accurate orbit within the time available it is necessary to optimize the follow-up observations strategy. In this paper an in‐depth study, using simulations and covariance analysis, is performed to identify the optimal sequence of follow-up observations to obtain the most accurate orbit propagation to be used for the space debris catalogue maintenance. The main factors that determine the accuracy of the results of an orbit determination/improvement process are: tracklet length, number of observations, type of orbit, astrometric error of the measurements, time interval between tracklets, and the relative position of the object along its orbit with respect to the observing station. The main aim of the covariance analysis is to optimize the follow-up strategy as a function of the object-observer geometry, the interval between follow-up observations and the shape of the orbit. This an alysis can be applied to every orbital regime but particular attention was dedicated to geostationary, Molniya, and geostationary transfer orbits. Finally the case with more than two follow-up observations and the influence of a second observing station are also analyzed.

Workshop: ASSIP - Attempted Suicide Short Intervention Program. Theory, Practice, and 24 Months Follow-up RCT.

Background: ASSIP is a manualized brief therapy based on a model of suicide as goal-directed action, aimed at establishing a therapeutic alliance in a patient-oriented, collaborative approach. The main goals of the three-session program ASSIP are for patients to understand, from an observer’s position, patterns leading to a suicidal crisis, recognize triggers and warning signs, and to establish individual safety strategies for future suicidal crises. An ongoing therapeutic support is provided with regular letters over 24 months. Method: The study was conducted in a naturalistic setting. 120 Patients were randomly assigned to an intervention group (60 participants) treated with ASSIP combined with follow-up contact through letters, and a control group (60 participants) receiving a single session of clinical assessment. Both groups had treatment as usual. Patients completed a set of psychosocial and clinical questionnaires every six months over a period of 24 months. Results: In the ASSIP group 5 patients made a total of 5 reattempts, compared to 15 patients with 41 reattempts in the control group. The survival analysis yielded a significant difference with a Wald Chi2 of .000003. The ASSIP group had significantly lower suicidal ideation and fewer days of inpatient treatment compared to the control group. Higher scores in the Penn Helping Alliance Questionnaire were associated with lower suicidal ideation during follow-up. Conclusions: ASSIP is a highly effective brief therapy for patients with recent suicide attempts. Forming a strong therapeutic alliance is considered to be a major factor for outcome. ASSIP can be used with minimal training by experienced therapists. An English version of the manual will be published in May 2015.