The symptomatology of aneurysmal bone cyst : the value of diagnostic imaging

Background: An aneurysmal bone cyst (ABC) is a benign lesion occurring mainly in children. Generally it is found in the metaphyses of long bones and in flat bones. Osteolysis, bone expansion, thinning of the cortex, osseous septa and fluid levels belong to the typical imaging findings in ABC cases. The purpose of the study was to determine the value of imaging methods: plain x-ray films, US, CT and MRI for the diagnosis of aneurysmal bone cyst and to work out the diagnostic algorithm for an ABC suspected on plain radiograms. Material/Methods: The material consists of 72 patients (44 boys, 28 girls) aged 2-23 years (mean age 12 yrs) with bone lesions diagnosed as aneurysmal bone cysts on pathologic examination. In all patients, plain radiographs were performed, in 26 - sonography (US), in 41 - computed tomography (CT), in 8 - magnetic resonance imaging (MRI). All the examinations were analyzed according to own system of evaluation of typical presentation in the particular methods. The histopathological diagnosis was established after biopsy or surgery. Results: The aneurysmal bone cysts were most frequently located in the long bones of the lower limbs (43%), in the long bones of the upper limbs (26.4%) and in flat bones (25%). The localization was mainly in the bone methaphyses (56.6%). On pathological examination, primary ABC was diagnosed in 65.3% of cases, secondary ABC in 23.6%, ABC and concomitant osteitis in 7%, ABC and giant cell tumor in 2.7%, ABC and chondrosarcoma in 1.4%. The application of four methods resulted in 72.2% consistency between diagnostic imaging and pathological examination. In case of only one method used the consistency was 75% for MRI, 63% for CT, 55.4% for plain films and 50% for US. In 100% of misdiagnosed cases there were no septa within osteolytic lesions on plain films, whereas in 43.8% features of malignancy were found. In 53% of misdiagnosed cases no fluid levels were observed on CT and in 69% on US. Conclusions: 1. The diagnosis of aneurismal bone cyst based on plain radiography is possible in cases with typical radiological signs. 2. Application of other methods significantly increases the percentage of correct diagnoses. 3. Lack of fluid levels does not exclude the diagnosis of ABC. 4. Imaging features of malignancy do not exclude the diagnosis of ABC

Environmental Marine Geoscience 4. Georgia Basin: Seabed Features and Marine Geohazards

A multibeam bathymetric swath-mapping program of the Strait of Georgia has provided a 5-m resolution map of the seabed. Numerous geological features of the basin, some of which are considered geohazards, are clearly defined. During the Olympia interglacial period most of the basin was filled with sediment and then subsequently excavated during the Fraser Glaciation, except for a group of isolated banks; the southern basin was partially filled by the pro-grading Fraser River Delta during the Holocene. Marine geohazards that exist in this seismically active region include, slope stability features, active faults, gas pockmarks, and large migrating sedimentary bedforms. Other features, such as sponge reefs, have developed because of the glacial history and dynamic oceanography of the basin and provide unique and critical habitats to marine species. SUMMAIRE Un programme de levé par balayage bathymétrique a faisceaux multiples dans le détroit de Georgie a permis la production d'une carte du fond marin d'une résolution de 5 m. De nombreux éléments géologiques du bassin y sont clairement définis, dont certains constituent des géorisques clairement définis. Durant la période interglaciaire d'Olympia, la plus grande partie du bassin a été rempli de sédiments, lesquels ont par la suite été excavés durant la glaciation de Fraser, sauf un groupe de bancs isolés; la partie sud du bassin a été partiellement remplie par progradation du delta de la rivière Fraser à l'Holocène. Les géorisques marins de cette région d'activité sismique comprennent certains éléments de stabilité des talus, des failles actives, des cratères d'échappement de gaz, et de grands éléments topographiques sédimentaires migrants. D'autres éléments, comme des récifs de spongiaires se sont développés à cause de l'histoire glaciaire et de la dynamique océanographique du bassin, constituent un habitat essentiel pour des espèces marines

Ocena radiologiczna płuc u dzieci z mukowiscydozą rozpoznaną w wyniku badania przesiewowego noworodków

Background: Cystic fibrosis is an inherited, autosomal, recessive disease. This disorder is caused by defects in the gene for cystic fibrosis transmembrane conductance regulator (CFTR), which encodes for a protein that functions as a chloride channel. Mutations in the gene for CFTR result in ion disorders, and consequently in disturbances of exocrine glands in the respiratory, gastrointestinal, and genitourinary tracts. Pulmonary involvement occurs in 90% of patients, and is the main cause of death. The diagnosis of CF in Poland is based on clinical symptoms and positive results of the sweat test. Diacrisis is usually reached late in the 3rd year of life. In 1999-2003, newborn screening examinations were performed at the Mother and Child Institute. The idea of these studies was to establish a diagnosis and begin treatment as early as possible, even in the asymptomatic period of the disease. The level of immunoreactive trypsynogen was determined in the blood of 4-6-day-old newborns, as well as the mutation of gene CFTR. The mean age of CF diagnosis was about 38 days. The aim of our study was to assess the influence of early commencement of treatment on the rapidity of progression of pulmonary involvement. Material/Methods: 59 children with CF diagnosed by screening were examined by chest radiography in various periods of the disease, the earliest in the neonatal period. Pulmonary involvement (hyperinflation, periobronchial thickening, pulmonary nodules, cysts, parenchymal density, atelectasis and fibrosus changes) were assessed according to Brasfield score. The control group consisted of 19 children with symptomatic CF, born in 1997-2003.They were also examined by chest radiography. Results: Various pulmonary changes were recognized in 42 children diagnosed by screening. In the control group pulmonary involvement was found in 16 children. In both groups progression was found in 28% of the children, but significant progression was seen in 7% of those children with a screening diagnosis, and in 25% of the children with symptomatic CF. Conclusions: An analysis of these results suggests that early diagnosis and early commencement of treatment do not prevent pulmonary involvement, but moderate the progression of the disease

Weak redshift discretisation in the Local Group of Galaxies?

We discuss the distribution of radial velocities of galaxies belonging to the Local Group. Two independent samples of galaxies as well as several methods of reduction from the heliocentric to the galactocentric radial velocities are explored. We applied the power spectrum analysis using the Hann function as a weighting method, together with the jackknife error estimation. We performed a detailed analysis of this approach. The distribution of galaxy redshifts seems to be non-random. An excess of galaxies with radial velocities of $\sim 24 {km} \cdot {s}^{-1}$ and $\sim 36 {km} \cdot {s}^{-1}$ is detected, but the effect is statistically weak. Only one peak for radial velocities of $\sim 24 {km} \cdot {s}^{-1}$ seems to be confirmed at the confidence level of 95%.Comment: 23 pages 7 figures Astronomische Nachrichten accepte

A novel role for kynurenine 3-monooxygenase in mitochondrial dynamics.

The enzyme kynurenine 3-monooxygenase (KMO) operates at a critical branch-point in the kynurenine pathway (KP), the major route of tryptophan metabolism. As the KP has been implicated in the pathogenesis of several human diseases, KMO and other enzymes that control metabolic flux through the pathway are potential therapeutic targets for these disorders. While KMO is localized to the outer mitochondrial membrane in eukaryotic organisms, no mitochondrial role for KMO has been described. In this study, KMO deficient Drosophila melanogaster were investigated for mitochondrial phenotypes in vitro and in vivo. We find that a loss of function allele or RNAi knockdown of the Drosophila KMO ortholog (cinnabar) causes a range of morphological and functional alterations to mitochondria, which are independent of changes to levels of KP metabolites. Notably, cinnabar genetically interacts with the Parkinson’s disease associated genes Pink1 and parkin, as well as the mitochondrial fission gene Drp1, implicating KMO in mitochondrial dynamics and mitophagy, mechanisms which govern the maintenance of a healthy mitochondrial network. Overexpression of human KMO in mammalian cells finds that KMO plays a role in the post-translational regulation of DRP1. These findings reveal a novel mitochondrial role for KMO, independent from its enzymatic role in the kynurenine pathway

BRAF^V600E-mutated serrated colorectal neoplasia drives transcriptional activation of cholesterol metabolism

Abstract BRAF mutations occur early in serrated colorectal cancers, but their long-term influence on tissue homeostasis is poorly characterized. We investigated the impact of short-term (3 days) and long-term (6 months) expression of Braf V600E in the intestinal tissue of an inducible mouse model. We show that Braf V600E perturbs the homeostasis of intestinal epithelial cells, with impaired differentiation of enterocytes emerging after prolonged expression of the oncogene. Moreover, Braf V600E leads to a persistent transcriptional reprogramming with enrichment of numerous gene signatures indicative of proliferation and tumorigenesis, and signatures suggestive of metabolic rewiring. We focused on the top-ranking cholesterol biosynthesis signature and confirmed its increased expression in human serrated lesions. Functionally, the cholesterol lowering drug atorvastatin prevents the establishment of intestinal crypt hyperplasia in Braf V600E -mutant mice. Overall, our work unveils the long-term impact of Braf V600E expression in intestinal tissue and suggests that colorectal cancers with mutations in BRAF might be prevented by statins

Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis

ARC syndrome is a rare autosomal recessive disease, characterized by arthrogryposis, renal tubular dysfunction and cholestasis. Herein a 2.5 month old infant with dysmorphic features, including small anterior fontanel, low set ears, beaked nose and high arched palate is presented who was referred because of icterus. He also suffered from some additional anomalies, including unilateral choanal atresia, club foot, and bilateral developmental dislocation of hip, while further studies showed renal tubular acidosis and hearing impairment in addition to cholestasis. Genetic studies showed a homozygous mutation in the VIPAS39 gene. Making the definite diagnosis of the syndrome is important, while increased risk of mutation in other siblings highlights the importance of prenatal diagnosis

Commissioning and Field Tests of a Van-Mounted System for the Detection of Radioactive Sources and Special Nuclear Material

MODES-SNM project aimed at developing a mobile/portable modular detection system for radioactive sources and Special Nuclear Material (SNM). Its main goal was to deliver a tested prototype capable of passively detecting weak or shielded radioactive sources with accuracy higher than that of currently available systems. By the end of the project all the objectives have been successfully achieved. Results from the laboratory commissioning and the field tests are presented in this publication

Seventeen years of prenatal magnetic resonance imaging at the Institute of Mother and Child in Warsaw

Purpose: The purpose of this paper is to summarise and to present the experience of the main Polish centre for prenatal magnetic resonance imaging (MRI) and to discuss the place and role of MRI in antenatal diagnosis, management, and counselling. Material and methods: Retrospective analysis of the examinations performed in the years 2001-2017. Results: In total, 1221 medical records and/or image files were collected. The full documentation of ultrasonography and MRI referrals, reports, and images was not available in every case. During the first three years 98 pregnant women were examined (approximately 33 per year, one study per fortnight). After purchase of own MR scanner, the number of examinations grew constantly, reaching 208 in 2017, which means almost one per day, and the highest number was eight in one day. We examined 45 pairs of twins, including three pairs of conjoined twins. Conclusions: MRI at our Institute is a practically used second-line foetal imaging tool, necessary to confirm, complete, or correct sonographic diagnoses, with important impact on clinical decisions concerning management of pregnancy and of the neonate, termination of pregnancy, choice of the time, place, and mode of delivery, and neonatal care, as well as on counselling. In experienced hands, MRI is to date the last and the best non-invasive method of diagnosis in utero. It is frequently requested by the interdisciplinary team for foetal diagnosis and therapy and routinely performed in everyday practice