Search

Purpose Brachytherapy is a great alternative for restrictive surgical procedures in facial cancers. Moreover, dose distribution is more beneficial compared with teleradiotherapy during treatment of lesions located on anatomical curves. However, repetitiveness of application is the main issue associated with using commercial applicators. The risk of its displacement is very unfavorable due to large dose gradients in brachytherapy. The aim of this study was to develop a process of preparation of applicators using 3D printing technology. Material and methods In planning system, circular volumes near the nose, eye, and ear were determined on transverse layers of an anthropomorphic phantom. Next, boluses with a thickness of 5 mm and 10 mm were designed for each of the layers. Channels in the 10 mm bolus were designed in such a way to place the catheters into the layers. Prepared applicators were printed using polylactic acid (PLA) filament. Plans to irradiate the films for their calibration and plans for treatment prepared in the treatment planning system were conducted. A special phantom was created to calibrate the radiochromic films. Dose distribution around the designed applicators was measured in an anthropomorphic phantom using films within the layers of phantom. Comparison of doses was performed with two-dimensional gamma analysis using OmniPro I’mRT software. Results The obtained results confirmed compliance of the planned and measured doses in 92%; the analysis of gamma parameter showed 1%/1 mm for acceptability level of 95%. Moreover, the initial dosimetric analysis for gamma criteria with 2%/2 mm showed compliance at 99%. Conclusions The results of the present study confirm potential clinical usefulness of the applicators obtained with the use of 3D printing for brachytherapy.

Background Cystic fibrosis (CF) is the most common, life-threatening, autosomal-recessive disorder among Caucasians. To date, approximately 2000 mutations in the CFTR gene have been reported. Some of these mutations are very rare, and some represent individual sequence changes in the gene. The introduction of newborn screening (NBS) in high prevalence countries for CF has considerably changed the diagnosing of this metabolic disease. Currently, in most cases, a diagnosis is made based on NBS, including or expanded with DNA analysis and confirmed with sweat chloride tests, rather than waiting until the child has already developed signs and symptoms. However, in rare cases, NBS does not provide enough information to confirm or reject a CF diagnosis. Not only are there small groups of patients who have false-negative or false-positive NBS results, but there is also a growing number of patients with positive NBS results in whom results of sweat tests and genetic examinations do not provide definite conclusions. Despite all knowledge and modern diagnostic tools at our disposal, sometimes the clinical presentation is so inconclusive, that making a final diagnosis remains a challenge. Case presentation In this case report, we present a male infant of Polish origin, whose symptoms and laboratory findings (including metabolic acidosis) were strongly suggestive of metabolic disease other than cystic fibrosis. Newborn screening for CF was positive, but the first sweat test results were equivocal, and initial and extended molecular tests were negative. Finally, after considering broad differential diagnosis, introducing treatment specific for CF and excluding other metabolic diseases, a third expanded genetic test revealed the presence of a rare pathogenic mutation in both alleles of the CFTR gene: c.4035_4038dupCCTA (p.Ser1347ProfsX13). Conclusion Although CF is considered a monogenic disorder, the relationship between genotype and phenotype is very complex. The reported case shows the unusual presentation of the disease. The patient’s clinical symptoms and laboratory findings, in combination with molecular test results, provide useful information for further observing the genotype-phenotype correlations in cystic fibrosis.

Objective/Purpose. Evaluation of efficacy and safety of autologous adipose-derived regenerative cells (ADRCs) treatment in autoimmune refractory epilepsy. Patients. Six patients with proven or probable autoimmune refractory epilepsy (2 with Rasmussen encephalitis, 2 with antineuronal autoantibodies in serum, and 2 with possible FIRES) were included in the project with approval of the Bioethics Committee. Method. Intrathecal injection of autologous ADRC acquired through liposuction followed by enzymatic isolation was performed. The procedure was repeated 3 times every 3 months with each patient. Neurological status, brain MRI, cognitive function, and antiepileptic effect were monitored during 12 months. Results. Immediately after the procedure, all patients were in good condition. In some cases, transient mildly elevated body temperature, pain in regions of liposuction, and slight increasing number of seizures during 24 hours were observed. During the next months, some improvements in school, social functioning, and manual performance were observed in all patients. One patient has been seizure free up to the end of trial. In other patients, frequency of seizures was different: from reduced number to the lack of improvement (3-year follow-up). Conclusion. Autologous ADRC therapy may emerge as a promising option for some patients with autoimmune refractory epilepsy. Based on our trial and other clinical data, the therapy appears to be safe and feasible. Antiepileptic efficacy proved to be various; however, some abilities improved in all children. No signs of psychomotor regression were observed during the first year following the treatment.

The creation of the National Freight Network as part of the Moving Ahead for Progress in the 21st Century Act (MAP-21) requires states to designate critical rural freight corridors (CRFCs). The MAP-21 act lists the criteria for designating CRFCs but does not specify the method. This paper proposes mileage-based, segment-based, and weighted average approaches to determine whether a corridor meets one of the CRFC criteria: a rural principal arterial that has a minimum 25% of truck traffic. The three approaches are explained, assessed, and mapped for the reader to compare the resulting networks. The paper then uses policy analysis techniques to assess the advantages and disadvantages of each approach. The analysis compares the approaches on the basis of network connectivity of the resulting CRFCs, the mileage of non-Interstate rural principal arterials, and robustness. Results indicate that state departments of transportation should use the mileage-based approach for computing truck traffic percentages when determining whether a corridor meets the minimum threshold of 25% truck traffic. The mileage approach combines the highest network connectivity, designates the highest number of non-Interstate rural principal arterial miles, and is a robust technique that controls for variable segment lengths.

As directed by the American Recovery and Reinvestment Act of 2009, the U.S. Department of Transportation (DOT) created the Transportation Investment Generating Economic Recovery (TIGER) discretionary grant program for surface transportation infrastructure projects. TIGER used a multistep competitive application process to award surface transportation funds. TIGER applications were initially screened by U.S. DOT’s staff of technical and economic experts and the final awardees were selected by a Review Team of Modal Administrators and DOT Office of the secretary-level officials. The purpose of the research was to determine if the most deserving projects, based on an applicant’s benefit–cost analysis and the likelihood that benefits exceeded costs, were more likely to receive grant funding. We base the findings on pair-wise comparisons and on logistic regression models. Based on these analyses, we found that the outcome of the benefit–cost analysis (both quality and expected net benefits) was not a statistically significant factor.

著者人数: 87名, Accepted: 2011-02-08, 資料番号: SA1004099000

Introduction: We present a patient with Dravet syndrome (DS) caused by the SCN1A mutation, and with neonatal seizure history. Material and Methods: Patient medical history was reviewed with focus on onset age, seizure types, EEG features, neuroimaging studies and treatment response. Results: A 16-month-old boy with an abnormal perinatal period presented a seizure on the second day of life during febrile congenital infection. He had developed focal right-sided seizures with sensitivity to low-grade fever since 4 months of age. The SCN1A nonsense mutation was confirmed. Subsequent disease course with multiple seizure type’s development became consistent with DS clinical diagnosis. Conclusions: DS diagnosis should not be ruled out in patients with neonatal seizures who meet the clinical, EEG and evolution criteria for this syndrome.

We report 26 individuals from ten unrelated families who exhibit variable expression and/or incomplete penetrance of epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities as a result of a heterozygous microdeletion distally adjacent to the Williams-Beuren syndrome region on chromosome 7q11.23. In six families with a common recurrent ∼1.2 Mb deletion that includes the Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma (YWHAG) genes and that is flanked by large complex low-copy repeats, we identified sites for nonallelic homologous recombination in two patients. There were no cases of this ∼1.2 Mb distal 7q11.23 deletion copy number variant identified in over 20,000 control samples surveyed. Three individuals with smaller, nonrecurrent deletions (∼180-500 kb) that include HIP1 but not YWHAG suggest that deletion of HIP1 is sufficient to cause neurological disease. Mice with targeted mutation in the Hip1 gene (Hip1⁻(/)⁻) develop a neurological phenotype characterized by failure to thrive, tremor, and gait ataxia. Overall, our data characterize a neurodevelopmental and epilepsy syndrome that is likely caused by recurrent and nonrecurrent deletions, including HIP1. These data do not exclude the possibility that YWHAG loss of function is also sufficient to cause neurological phenotypes. Based on the current knowledge of Hip1 protein function and its proposed role in AMPA and NMDA ionotropic glutamate receptor trafficking, we believe that HIP1 haploinsufficiency in humans will be amenable to rational drug design for improved seizure control and cognitive and behavioral function.

The authors present the first case of regression of cystic lesions on brain MRI in a newborn after therapeutic hypothermia in Poland. Multicystic encephalopathy is the most severe form of hypoxic-ischemic encephalopathy and its regression is described very rarely in the literature. Magnetic resonance imaging is an accepted, optimal method of evaluation of the brain and establishing prognosis in children with HIE. After normal pregnancy an emergency cesarean section was performed at 37 weeks gestation due to the markers of intrauterine hypoxia on CTG. The condition of the newborn was serious: 3, 5, 7, 8 points according to Apgar score in 1st, 3nd, 5th and 10th minute of life, respectively. The infant required resuscitation. The cooling procedure lasted 72 hours. The first MRI study was performed at the age of 3 weeks and revealed cavities in the frontal and parietal lobed. The Evans index was 0.33. The second MRI investigation was carried out at the age of 5 weeks. The cavitary appearance did not change, the Evans index decreased to 0.32. The child underwent third MRI at the age of 2 years 4 months. No cystic lesions were found. There were signs of gliosis in their place and focal cortical-subcortical atrophy. The Evans index was 0.28 (within the normal limits). The neuropsychological status of the child at the age of 2.5 years is normal and brain MRI reveals strikingly mild lesions as compared to cavitary injury reported at the age of 3 and 5 weeks. The presented case shows that severe hypoxic-ischemic lesions such as cavities in an infant after cooling procedure do not necessarily mean poor prognosis, as with time even such lesions may regress. Therefore, even after the MRI diagnosis of multicystic encephalopathy the prognosis should be made with care.