Leiomyoma of the Suprarenal Gland in a Child with Ataxia-Telangiectasia

We report the occurrence of a leiomyoma of the suprarenal gland in a 10-year-old girl with ataxia-telangiectasia (A-T). Muscle cell tumors are very uncommon in this gland as they are in A-T. Possible reasons for developing nonhematologic tumors in this syndrome are reviewed. A defect in DNA repair mechanisms probably favors, in young children, the expression of tumors normally expected in the aged.     

Assessment of the acceptability of the Elekta multileaf collimator (MLC) within the Corvus planning system for static and dynamic delivery of intensity modulated beams (IMBs).

The sliding window technique used for static and dynamic segmentation of intensity modulated beams is evaluated. Dynamic delivery is preferred since the resulting distributions correspond better with the calculated distributions, the treatment beam is used more efficiently and the delivery is less sensitive to small variations in the accuracy of the multileaf collimator (MLC).     

Sudden unexpected death in children with a previously diagnosed cardiovascular disorder

BACKGROUND: It is known that children with previously diagnosed heart defects die suddenly. The causes of death are often unknown. OBJECTIVE: The aim of the study was to identify all infants and children within the Netherlands with previously diagnosed heart disease who had a sudden unexpected death (SUD), and to identify the possible cause of death. DESIGN: Retrospective, cross-sectional study. PATIENTS AND SETTING: All children (<19 years) with a previously diagnosed heart defect and SUD between January 1990 and June 2001 in seven out of eight tertiary centres in the Netherlands were identified using the hospital databases. We excluded patients receiving compassionate care. Diagnoses, clinical status and circumstances of death were sought from case notes and post mortem reports. Deaths were classified as of cardiac or non-cardiac origin. RESULTS: We identified 150 cases of SUD (89 male) at a median age of 2.3 years (range 18 days-18.9 years); 49/150 patients (33%) were 相似文献   

Medical treatment of juvenile hemangiomas

Infantile hemangioma always involute in 5 to 7 years. However, 10% of proliferating hemangiomas will necessitate a therapeutic approach, often medical, in order to avoid life or organ threatening, fonctional or esthetic sequelae. "Which hemangioma need to be treated, when and how" are important questions for the optimal management of infantile hemangiomas. Corticotherapy is still the treatment of choice for these lesions. Other anti-angiogenic molecules have also been successfully used such as interferon alfa-2a and vincristine. This chapter tries to answer these questions and detail the different medical modalities for the treatment of infantile hemangioma.     

Peak and submaximal steady-state metabolic and cardiorespiratory responses during arm-powered and arm-trunk-powered handbike ergometry in able-bodied participants

The purpose of this study was to compare the peak and submaximal metabolic and cardiorespiratory responses during steady-state arm-powered (AP) and arm-trunk-powered (ATP) handbike ergometry. Twelve male able-bodied participants with no prior experience in handcycling completed a maximal progressive incremental test and a series of 6-minute submaximal tests at 130 W with various cadences in a custom-designed handbike ergometer that allowed a realistic simulation of AP and ATP handcycling. Peak power output, peak oxygen uptake, and peak ventilation were significantly lower, whereas peak blood lactate concentration was significantly higher during AP handcycling. Mean gross mechanical efficiency was significantly higher during AP handcycling (range 16.7 to 20.5%) compared with ATP handcycling (range 15.8 to 17.6%). These results suggest that AP handcycling is advantageous during submaximal steady-state handcycling, whereas ATP handcycling allows for a higher peak power output generation. However, it remains unclear which handbike configuration would be favorable during competition.     

A phase I/IIa immunotherapy trial of HIV-1-infected patients with Tat, Rev and Nef expressing dendritic cells followed by treatment interruption

In a phase I/IIa clinical trial, 17 HIV-1 infected patients, stable on cART, received 4 vaccinations with autologous dendritic cells electroporated with mRNA encoding Tat, Rev and Nef, after which cART was interrupted. Vaccination was safe and feasible. During the analytical treatment interruption (ATI), no serious adverse events were observed. Ninety-six weeks following ATI, 6/17 patients remained off therapy. Although induced and/or enhanced CD4(+) and CD8(+) T-cell responses specific for the immunogens were observed in most of the patients, we found no correlation with the number of weeks off cART. Moreover, CD4(+) T-cell counts, plasma viral load and the time remaining off cART following ATI did not differ from historical control data. To conclude, the vaccine was safe, well tolerated and resulted in vaccine-specific immune responses. Since no correlation with clinical parameters could be found, these results warrant further research in order to optimize the efficacy of vaccine-induced T-cell responses.     

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)

FAP is characterized by 100-1000s of adenomatous polyps in colon and rectum, and is in 70% of the patients associated with extracolonic manifestations. Attenuated FAP (AFAP) is a less severe form of FAP, marked by the presence of < 100 polyps and a later onset of colorectal cancer (CRC). (A)FAP is caused by autosomal dominantly inherited mutations in the APC (Adenomatous polyposis coli) gene, a tumour suppressor gene that controls beta-catenin turnover in the Wnt pathway. De novo occurrence is reported in 30-40% of the patients. Mutations are detected in 85% of classical FAP families, while only 20%-30% of AFAP cases will exhibit a germline APC mutation. MUTYH is the second (A)FAP-related gene and is involved with base-excision repair of DNA damaged by oxidative stress. MUTYH mutations are inherited in an autosomal recessive way and account for 10%-20% of classical FAP cases without an APC mutation and for 30% of AFAP cases. Genotype-phenotype correlations exist for mutations in the APC gene, however, contradictions in the literature caution against the sole use of the genotype for decisions regarding clinical management. Once the family's specific APC mutation is identified in the proband, predictive testing for first degree relatives is possible from the age of 10 to 12 years on. For AFAP, relatives are tested at age 18 and older. Opinions about the appropriate ages at which to initiate genetic testing may vary. Physicians must have a discussion about prenatal testing with patients in childbearing age. They may either opt for conventional prenatal diagnosis (amniocentesis or chorionic villous sampling) or for preimplantation genetic diagnosis (PGD).     

Determinants of shuttle run performance in the prediction of peak VO2 in wheelchair users

Purpose. The purpose of this study was to determine the impact of ergonomic and environmental variations on indoor shuttle run (SR) performance in wheelchair sportsmen.

Methods. Eleven experienced male wheelchair sportsmen performed three 25-m SRs in random order with varying turning capacity (TC) and mechanical resistance (MR): condition NN where participants used their sports wheelchair on a tartan surface, condition RN with increased MR, and condition RD with limited TC. Metabolic data were continuously recorded using a portable K4b² system.

Results. Friedman ANOVA with Wilcoxon a posteriori testing indicated similar VO_2peak values in all three tests. SR performance, however, was significantly different across the three test conditions (NN: 536.18 ± 119.09 s; RN: 488.82 ± 119.84 s; RD: 404.91 ± 88.41 s). SR performance contributed for 28% of the explained variance of the measured VO_2peak. The addition of TC or MR or both increased the explained variance to 32, 38 and 41%, respectively.

Conclusions. These findings demonstrate a significant impact of variations in floor surface and wheelchair-user interface on SR performance. The findings also suggest that strong reservations have to be made regarding the validity of a SR test, as predictor of VO_2peak in a wheelchair user population.