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Grzegorz Jedrzejewski, Magdalena M Wozniak, Agata Pawelec, Albert Matera, Magdalena Kunach, Tomasz Madej, Andrzej P Wieczorek, Katarzyna Nowakowska
The aim of the ultrasound (US) screening program was to detect neoplastic lesions in children, together with other pathologies of the developmental age in the area of the neck, abdomen, female pelvis, and scrotum in boys.US screening scans, including cervical, abdominal, pelvical, and scrotal US, were performed in the population of asymptomatic children aged from 9 months to 6 years. The children were scanned in Mobile Pediatric US Unit, consisting of 2 independent consulting rooms.The scans of 14,324 children were analyzed, 7247 boys and 7077 girls...
October 2016: Medicine (Baltimore)
William J Gammerdinger, Matthew A Conte, Jean-François Baroiller, Helena D'Cotta, Thomas D Kocher
BACKGROUND: Inversions and other structural polymorphisms often reduce the rate of recombination between sex chromosomes, making it impossible to fine map sex-determination loci using traditional genetic mapping techniques. Here we compare distantly related species of tilapia that each segregate an XY system of sex-determination on linkage group 1. We use whole genome sequencing to identify shared sex-patterned polymorphisms, which are candidates for the ancestral sex-determination mutation...
October 18, 2016: BMC Genomics
Merel M C Bruijn, Jolande Y Vis, Femke F Wilms, Martijn A Oudijk, Anneke Kwee, Martina M Porath, Guid Oei, Hubertina C J Scheepers, Marc E A Spaanderman, Kitty W M Bloemenkamp, Monique C Haak, Antoinette C Bolte, Frank P H A Vandenbussche, Mallory D Woiski, Caroline J Bax, Jérôme M J Cornette, Johannes J Duvekot, Bas W A Nij Bijvank, Jim van Eyck, Maureen T M Franssen, Krystyna M Sollie, Joris A M van der Post, Patrick M M Bossuyt, Brent C Opmeer, M Kok, Ben W J Mol, Gert-Jan van Baaren
OBJECTIVE: To compare the accuracy of the Actim Partus test and fetal fibronectin (fFN) test in the prediction of spontaneous preterm delivery within seven days in symptomatic women undergoing cervical length measurement. STUDY DESIGN: We performed a post-hoc analysis on frozen samples of a nationwide cohort study in all 10 perinatal centres in the Netherlands. We selected samples from women with signs of preterm labour between 24 and 34 weeks of gestational age and a cervical length below 30mm...
September 20, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Surbhi Goyal, Kiran Mishra, Urvee Sarkar, Satendra Sharma, Anita Kumari
BACKGROUND & OBJECTIVES: Renal tumours constitute about 7 per cent of all neoplasms in children. It is important to differentiate Wilms' tumour (commonest tumour) from non-Wilms' tumours. The aim of this study was to evaluate the immunoexpression and diagnostic role of Wilms' tumour-1 protein (WT1) in paediatric renal tumours. METHODS: A total of 53 cases of renal tumours in children (below 18 yr) who underwent total nephrectomy were included in this retrospective study...
May 2016: Indian Journal of Medical Research
Xiao-Su Zhao, Ya-Zhen Qin, Yan-Rong Liu, Ying-Jun Chang, Lan-Ping Xu, Xiao-Hui Zhang, Xiao-Jun Huang
The minimal residual disease (MRD) before and after a haploidentical hematopoietic stem cell transplantation (HSCT) of 86 patients with acute myeloid leukemia (AML) in complete remission (CR) was measured using flow cytometry (FCM) and Wilms tumor 1 (WT1). In all, 18 patients met the criteria of pre-MRD + before HSCT. The FCM + (p = .028) and the combinative criteria for positive MRD (MRDco+) (p = .022) post-transplantation were significantly correlated to relapse in univariate analysis. A multivariate analysis showed that only MRDco + post-transplantation was an independent risk factor of leukemia relapse (p = ...
October 12, 2016: Leukemia & Lymphoma
Katarzyna Taran, Tomasz FrÄ Czek, Anita Sikora-Szubert, Anna Sitkiewicz, Wojciech Må Ynarski, Józef Kobos, Piotr Paneth
The paper describes a novel approach to investigating Wilms' tumour (nephroblastoma) biology at the atomic level. Isotope Ratio Mass Spectrometry (IRMS) was used to directly assess the isotope ratios of nitrogen and carbon in 84 Wilms' tumour tissue samples from 28 cases representing the histological spectrum of nephroblastoma. Marked differences in nitrogen and carbon isotope ratios were found between nephroblastoma histological types and along the course of cancer disease, with a breakout in isotope ratio of the examined elements in tumour tissue found between stages 2 and 3...
October 8, 2016: Oncotarget
Mingsheng Zhang, Enda Xue, Wei Shao
BACKGROUND: Nephroblastoma (Wilms' tumor [WT]) is the most common malignant renal cancer in children. Although the outcome of WT has significantly improved as a result of the combination of surgery, chemotherapy, and radiotherapy; in some cases WT results in severe complications. Thus, novel strategies that would decrease treatment burden are required. The aim of the current study was to investigate the synergistic antitumor effect of andrographolide (AND) in combination with vincristine (VCR) on WT cells...
2016: Drug Design, Development and Therapy
Anna Heintz-Buschart, Patrick May, Cédric C Laczny, Laura A Lebrun, Camille Bellora, Abhimanyu Krishna, Linda Wampach, Jochen G Schneider, Angela Hogan, Carine de Beaufort, Paul Wilmes
The gastrointestinal microbiome is a complex ecosystem with functions that shape human health. Studying the relationship between taxonomic alterations and functional repercussions linked to disease remains challenging. Here, we present an integrative approach to resolve the taxonomic and functional attributes of gastrointestinal microbiota at the metagenomic, metatranscriptomic and metaproteomic levels. We apply our methods to samples from four families with multiple cases of type 1 diabetes mellitus (T1DM)...
October 10, 2016: Nature Microbiology
Jacob Freedman, Piotr Harbut
This is a case report of microwave energy being used to ablate an inoperable metastasis of a Wilms' tumour in a 6-year-old boy using state-of-the-art navigated computed tomography targeting and high-frequency jet ventilation to reduce organ displacement and the potential risk of procedure-related pneumothorax. After the ablation, the young boy had high-dose chemotherapy followed by an autologous stem cell transplantation with rapid reduction of three recurrent right-sided lung metastases.
May 2016: Case Reports in Oncology
Roberto Iglesias Lopes, Jessica Ming, Martin A Koyle, Ronald Grant, Adriana Fonseca, Armando J Lorenzo
OBJECTIVE: To describe the experience and technique of zero-ischemia laparoscopic-assisted partial nephrectomy at The Hospital for Sick Children, as an alternative to the traditional open approach for nephron sparing surgery in selected children with Wilms' tumors (WT). MATERIALS AND METHODS: Patients with diagnosis of WT treated with neoadjuvant chemotherapy and who underwent laparoscopic-assisted nephron-sparing surgery at the Hospital for Sick Children from 2012-2016 were identified and charts reviewed retrospectively...
October 6, 2016: Urology
Supamit Ukarapong, Gary Berkovitz, Kenneth McElreavey, Anu Bashamboo, Yong Bao
Mutation of the Wilms tumor suppressor gene (WT1) has been recognized as one of the etiologies of steroid-resistant nephrotic syndrome (SRNS). The mutation is also responsible for gonadal dysgenesis in 46,XY individuals. Early recognition of the presence of Y chromosome is of particular importance because of the high risk of gonadal tumor. We present here three cases of steroid-resistant nephrotic syndrome with WT1 mutation and 46,XY karyotype. Patient 1 and 2 have intron splice site (IVS9+5G > A) mutation...
October 10, 2016: Clinical Nephrology
Jan Hourfar, Charles J Ruff, Benedict Wilmes, Bjorn Ludwig, Georgios Kanavakis
No abstract text is available yet for this article.
August 2016: Journal of Clinical Orthodontics: JCO
Ariadne H A G Ooms, Samantha Gadd, Daniela S Gerhard, Malcolm A Smith, Jaime M Guidry Auvil, Daoud Meerzaman, Qing-Rong Chen, Chih Hao Hsu, Chunhua Yan, Cu Nguyen, Ying Hu, Yussanne Ma, Zusheng Zong, Andrew J Mungall, Richard A Moore, Marco A Marra, Vicki Huff, Jeffrey S Dome, Yueh-Yun Chi, Jing Tian, James I Geller, Charles G Mullighan, Jing Ma, David A Wheeler, Oliver A Hampton, Amy L Walz, Marry M van den Heuvel-Eibrink, Ronald R de Krijger, Nicole Ross, Julie M Gastier-Foster, Elizabeth J Perlman
PURPOSE: To investigate the role and significance of TP53 mutation in diffusely anaplastic Wilms tumors (DAWTs). EXPERIMENTAL DESIGN: All DAWTs registered on National Wilms Tumor Study-5 (n = 118) with available samples were analyzed for TP53 mutations and copy loss. Integrative genomic analysis was performed on 39 selected DAWTs. RESULTS: Following analysis of a single random sample, 57 DAWTs (48%) demonstrated TP53 mutations, 13 (11%) copy loss without mutation, and 48 (41%) lacked both [defined as TP53-wild-type (wt)]...
October 4, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Julia Hoefele, Markus J Kemper, Ulf Schoenermarck, Susanna Mueller, Hanns-Georg Klein, Anja Lemke
About 30% of children with nephrotic syndrome (NS) have inherited forms. Among them, mutations in Wilms tumor suppressor gene 1 (WT1) are a well characterized cause associated with steroid-resistant NS, Wilms tumor, and urogenital malformation in males. However, the role of WT1 mutations in adult-onset focal segmental glomerulosclerosis (FSGS) is unclear. We report the case of a 38-year-old female with FSGS. She had been diagnosed with streak ovaries during diagnostic workup for infertility. Mutational analysis identified the heterozygous mutation c...
October 5, 2016: Nephron
Korkiat Theerakitthanakul, Jeerasak Khrueathong, Jirasak Kruatong, Potchanapond Graidist, Pritsana Raungrut, Kanita Kayasut, Surasak Sangkhathat
: Wilms tumor (WT) is an embryonal tumor occurring in developing kidney tissue. WT cells showing invasive cancer characteristics, also retain renal stem cell behaviours. In-vitro culture of WT is hampered by limited replicative potential. This study aimed to establish a longterm culture of WT cells to enable the study of molecular events to attempt to explain its cellular senescence. METHODS: Primary cell cultures from fresh WT tumor specimen were established. Of 5 cultures tried, only 1 could be propagated for more than 7 passages...
2016: Journal of Cancer
Nadja Apelt, Jochen Hubertus, Doris Mayr, Norbert Graf, Rhoikos Furtwängler, Dietrich Von Schweinitz, Roland Kappler
Wilms tumor (WT) is the most common pediatric renal malignancy. A recent ontogenic model suggests that undifferentiated tumor state, and hence poor prognosis, in WT is determined by stabilization of β-catenin in the nucleus. Forkhead box M1 (FOXM1) is a downstream component of the Wnt pathway and promotes nuclear localization of β-catenin. As elevation of FOXM1 gene expression is prognostic in various types of malignancy, we hypothesized that high FOXM1 expression in WT is associated with undifferentiated histology and thus poor prognosis...
October 2016: Oncology Letters
Viviane Wilms, Christine Köppl, Chris Söffgen, Anna-Maria Hartmann, Hans Gerd Nothwang
In the cochlea, mammals maintain a uniquely high endolymphatic potential (EP), which is not observed in other vertebrate groups. However, a high [K(+)] is always present in the inner ear endolymph. Here, we show that Kir4.1, which is required in the mammalian stria vascularis to generate the highly positive EP, is absent in the functionally equivalent avian tegmentum vasculosum. In contrast, the molecular repertoire required for K(+) secretion, specifically NKCC1, KCNQ1, KCNE1, BSND and CLC-K, is shared between the tegmentum vasculosum, the vestibular dark cells and the marginal cells of the stria vascularis...
September 29, 2016: Scientific Reports
Charlotte Van Ende, Dunja Wilmes, Frédéric E Lecouvet, Laura Labriola, René Cuvelier, Grégory Van Ingelgem, Michel Jadoul
A few single cases of Mycobacterium chelonae skin infection have been reported in haemodialysis patients. We report three additional cases that share peculiar clinical characteristics, pointing to diagnostic clues. All three cases presented as erythematous nodules developing distally to a proximal arteriovenous fistula (AVF). This presentation was identical to that of two published cases. A survey of all Belgian haemodialysis units during the period 2007-11 yields an estimated incidence of ∼0.9/10 000 patient-years...
October 2016: Clinical Kidney Journal
Amei Schweigert, Carmen Fischer, Doris Mayr, Dietrich von Schweinitz, Roland Kappler, Jochen Hubertus
PURPOSE: The Wnt/β-catenin pathway is known to be crucial for the regulation of embryogenesis and cell differentiation, and its constitutive activation is associated with a wide range of malignancies. There are two major principles for an activated Wnt/β-catenin pathway. The first is caused by the failure of the destruction complex, mainly due to the decreased expression of the tumor suppressor gene adenomatous polyposis coli (APC); the second is the mutation of the β-catenin (CTNNB1) protein itself...
September 27, 2016: Pediatric Surgery International
Timo Hinrichs, Bettina Bücker, Renate Klaaßen-Mielke, Michael Brach, Stefan Wilm, Petra Platen, Anna Mai
OBJECTIVES: To evaluate the effects a home-based exercise program delivered to ill and mobility-limited elderly individuals on physical function, physical activity, quality of life, fall-related self-efficacy, and exercise self-efficacy. DESIGN: Randomized controlled trial (ISRCTN Registry, Reg.-No. ISRCTN17727272). SETTING: Fifteen general practitioner (GP) practices and participants' homes. PARTICIPANTS: Chronically ill and mobility-limited individuals aged 70 and older (N = 209)...
September 27, 2016: Journal of the American Geriatrics Society
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