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Sandrine Girerd, Lucie Tosca, Olivier Herault, Christine Vignon, Denis Biard, Djamel Aggoune, Fatima Dkhissi, Marie Laure Bonnet, Nathalie Sorel, Christophe Desterke, Annelise Bennaceur-Griscelli, Gerard Tachdjian, François Guilhot, Joelle Guilhot, Jean-Claude Chomel, Ali G Turhan
Manganese Superoxide dismutase 2 (SOD2) plays a crucial role in antioxidant defense but there are no data suggesting its role in genetic instability in CML. We evaluated the effects of SOD2 silencing in human UT7 cell line expressing either non-mutated or T315I-mutated BCR-ABL. Array-CGH experiments detected in BCR-ABL-expressing cells silenced for SOD2 a major genetic instability within several chromosomal loci, especially in regions carrying the glypican family (duplicated) and β-defensin genes (deleted)...
March 16, 2018: Biochemical and Biophysical Research Communications
Ibtessam R Hussein, Rima S Bader, Adeel G Chaudhary, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans-Juergen Schulten, Mohammad H Al Qahtani
Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac defects are caused by chromosomal abnormalities or single gene defects; however, in a large proportion of cases no genetic diagnosis could be achieved by clinical examination and conventional genetic analysis. The development of genome wide array-Comparative Genomic Hybridization technique (array-CGH) allowed for the detection of cryptic chromosomal imbalances and pathogenic copy number variants (CNVs) not detected by conventional techniques...
March 14, 2018: Pediatric Cardiology
Frank Tüttelmann, Christian Ruckert, Albrecht Röpke
Infertility is a common condition estimated to affect 10-15% of couples. The clinical causes are attributed in equal parts to the male and female partners. Diagnosing male infertility mostly relies on semen (and hormone) analysis, which results in classification into the two major phenotypes of oligo- and azoospermia. The clinical routine analyses have not changed over the last 20 years and comprise screening for chromosomal aberrations and Y‑chromosomal azoospermia factor deletions. These tests establish a causal genetic diagnosis in about 4% of unselected men in infertile couples and 20% of azoospermic men...
2018: Medizinische Genetik: Mitteilungsblatt des Berufsverbandes Medizinische Genetik E.V
Susanne Ledig, Peter Wieacker
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome [MIM 277000] is characterised by the absence of a uterus and vagina in otherwise phenotypically normal women with karyotype 46,XX. Clinically, the MRKH can be subdivided into two subtypes: an isolated or type I form can be delineated from a type II form, which is characterised by extragenital malformations. The so-called Müllerian hypoplasia, renal agenesis, cervicothoracic somite dysplasia (MURCS) association can be seen as the most severe phenotypic outcome...
2018: Medizinische Genetik: Mitteilungsblatt des Berufsverbandes Medizinische Genetik E.V
I Maini, I Ivanovski, O Djuric, S G Caraffi, E Errichiello, M Marinelli, F Franchi, V Bizzarri, S Rosato, M Pollazzon, C Gelmini, M Malacarne, C Fusco, G Gargano, S Bernasconi, O Zuffardi, L Garavelli
BACKGROUND: Since 2010, array-CGH (aCGH) has been the first-tier test in the diagnostic approach of children with neurodevelopmental disorders (NDD) or multiple congenital anomalies (MCA) of unknown origin. Its broad application led to the detection of numerous variants of uncertain clinical significance (VOUS). How to appropriately interpret aCGH results represents a challenge for the clinician. METHOD: We present a retrospective study on 293 patients with age range 1 month - 29 years (median 7 years) with NDD and/or MCA and/or dysmorphisms, investigated through aCGH between 2005 and 2016...
March 9, 2018: Italian Journal of Pediatrics
Radka Symonová, Iva Vrbová, Dunja K Lamatsch, Jürgen Paar, Renate Matzke-Karasz, Olivier Schmit, Koen Martens, Stefan Müller
Transitions from sexual to asexual reproduction are often associated with polyploidy and increased chromosomal plasticity in asexuals. We investigated chromosomes in the freshwater ostracod species Eucypris virens (Jurine, 1820), where sexual, asexual and mixed populations can be found. Our initial karyotyping of multiple populations from Europe and North Africa, both sexual and asexual, revealed a striking variability in chromosome numbers. This would suggest that chromosomal changes are likely to be accelerated in asexuals because the constraints of meiosis are removed...
March 8, 2018: Genes
Luc Cabel, Alina Fuerea, Ludovic Lacroix, Capucine Baldini, Patricia Martin, Antoine Hollebecque, Sophie Postel-Vinay, Andrea Varga, Rastilav Balheda, Anas Gazzah, Jean-Marie Michot, Aurélien Marabelle, Etienne Rouleau, Eric Solary, Thierry De Baere, Eric Angevin, Jean-Pierre Armand, Stefan Michiels, Jean Yves Scoazec, Samy Ammari, Fabrice André, Jean-Charles Soria, Christophe Massard, Loic Verlingue
A targeted therapy is recommended in case of ERBB2 alteration for breast and gastric carcinomas, but miscellaneous other tumor types are ERBB2- altered at low prevalence. Broadening the administration of HER2 inhibitors across tumor types and genomic alterations could benefit to patients with refractory metastatic tumors. Targeted next-generation-sequencing (tNGS) and comparative genomic hybridization array (CGH) have been performed on fresh tumor biopsies of patients included in the MOSCATO-01 and ongoing MOSCATO-02 trials to administrate HER2 inhibitors in case of ERBB2 pathogenic mutation of amplification...
February 9, 2018: Oncotarget
Nitya Prabhakaran, Miguel A Guzman, Pournima Navalkele, Edna Chow-Maneval, Jacqueline R Batanian
Gangliogliomas are rare neoplasms of the central nervous system that mostly originate in the temporal lobe and are associated with seizures. Literature mentions that BRAF mutations are most commonly associated with gangliogliomas. We discuss a unique case of ganglioglioma originating in the posterior fossa that showed multiple losses and a unique interstitial deletion at 9q21 by an array-comparative genome hybridization (array-CGH). The deletion led to a novel molecular fusion (TLE4-NTRK2) which was confirmed by next generation sequencing and provides a potential for a gene-targeted therapy...
March 4, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Frederik Heldt, Hannah Wallaschek, Tim Ripperger, Susanne Morlot, Thomas Illig, Thomas Eggermann, Brigitte Schlegelberger, Caroline Scholz, Doris Steinemann
We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent forehead and a failure to thrive but did not show relative macrocephaly. In addition, our index patient showed dysmorphic facial features, periodically increased sweating, and scoliosis...
March 1, 2018: European Journal of Medical Genetics
Y Nilipour, S Nafissi, A E Tjust, G Ravenscroft, H Hossein-Nejad, R Taylor, V Varasteh, F Pedrosa Domellöf, M Zangi, S H Tonekaboni, M Olivé, K Kiiski, L Sagath, Davis, N Laing, H Tajsharghi
BACKGROUND: Nemaline myopathy has been associated with mutations in twelve genes to date. However, for some patients diagnosed with nemaline myopathy, definitive mutations are not identified in the known genes, suggesting there are other genes involved. This study describes compound heterozygosity for rare variants in RYR3 in one such patient. RESULTS: Clinical examination of the patient at 22 years of age revealed a long-narrow face, high arched palate and bilateral facial weakness...
March 2, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Eigil Kjeldsen, Christopher Veigaard, Anni Aggerholm, Henrik Hasle
Congenital hypoplastic bone marrow failure is a rare condition in neonates. The genetics and mechanisms behind are largely obscure. Here we characterize a neonate presenting with congenital thrombocytopenia and anemia. During the first 2-4 weeks after birth the neonate developed severe neutropenia while the lymphoid lineages were unaffected. The neonate was without dysmorphic signs. A de novo mono-allelic constitutional microdeletion of 175.1 kb at 3q26.2 affecting exon 2 of MECOM, involving MDS1 but not EVI1, was identified as the only copy number alteration by oligo-based array-CGH analysis...
February 26, 2018: Gene
Anna Kalbarczyk, Nina A Martin, Emily Combs, Marie Ward, Peter J Winch
BACKGROUND: Global Health is an inherently interdisciplinary field but overseas training in global health, particularly among health science institutions, has been an 'individual' or 'individual discipline' experience. Team-based training is an approach to global health education which is increasing in popularity; research on team-training demonstrates that teams are more productive than individuals. In 2015, the Johns Hopkins Center for Global Health (CGH) developed the Global Established Multidisciplinary Sites (GEMS) program, an interdisciplinary training program which was designed to establish a new norm in global health training by bringing interdisciplinary teams of faculty and students together to identify and solve complex global health challenges...
March 1, 2018: Globalization and Health
Lindsay McCORMACK, Elena B Hawryluk
Pediatric melanoma is a rare disease that affects approximately 6 out of every one million children and accounts for 1-4 percent of all melanomas. This article reviews the epidemiology, etiology, diagnosis, treatment and prognosis of pediatric melanoma - with particular attention to recent updates in the literature. While awareness of melanoma increases among the general population, recent data suggest stable and even declining incidence rates among certain pediatric populations. Studies have examined clinical features and presentations of melanoma among the pediatric population and the conventional ABCDE criteria used to diagnosis adult melanoma may not be entirely appropriate for pediatric melanoma; as such, additional pediatric-ABCD and CUP criteria have been proposed...
February 26, 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
Mitchell Haas, Gert Bronfort, Roni Evans, Craig Schulz, Darcy Vavrek, Leslie Takaki, Linda Hanson, Brent Leininger, Moni B Neradilek
BACKGROUND CONTEXT: The optimal number of visits for the care of cervicogenic headache (CGH) with spinal manipulative therapy (SMT) is unknown. PURPOSE: To identify the dose-response relationship between visits for SMT and chronic CGH outcomes; to evaluate the efficacy of SMT by comparison with a light massage control. STUDY DESIGN/SETTING: Two-site, open-label randomized controlled trial. PATIENT SAMPLE: Participants were 256 adults with chronic CGH...
February 23, 2018: Spine Journal: Official Journal of the North American Spine Society
Beatriz Villafuerte, Daniel Natera-de Benito, Aidy González, María A Mori, María Palomares, Julián Nevado, Sixto García-Miñaur, Pablo Lapunzina, Luis I González-Granado, Luis M Allende, José C Moreno
Genetic defects of NKX2-1 are classically associated with hypothyroidism, benign chorea and neonatal respiratory distress. The purpose of this study was to identify the genetic pathogenesis of the "NKX2-1 triad" in a 10 year-old female presenting additional features barely described in the disorder. In the neonatal period, she presented with generalized hypotonia and respiratory distress, with later episodes of frequent wheezing. At 3 month-age developmental dysplasia of the hip was diagnosed and at 10 months, primary hypothyroidism was detected and treated...
February 22, 2018: European Journal of Medical Genetics
Mirella Hage, Say Viengchareun, Erika Brunet, Chiara Villa, Dominique Pineau, Jérôme Bouligand, Jean Paul Teglas, Clovis Adam, Fabrice Parker, Marc Lombès, Gérard Tachdjian, Stéphane Gaillard, Philippe Chanson, Lucie Tosca, Peter Kamenický
Purpose: The molecular pathogenesis of growth hormone (GH)-secreting pituitary adenomas is not fully understood. Cytogenetic alterations might serve as alternative driver events in GNAS mutation-negative somatotroph tumors. Experimental Design: We performed cytogenetic profiling of pituitary adenomas obtained from 39 acromegalic patients and 4 patients with sporadic gigantism by using array comparative genomic hybridization (array-CGH) analysis. We explored intratumor DNA copy-number heterogeneity in two tumor samples by using DNA fluorescence in situ hybridization (FISH)...
February 21, 2018: Journal of Clinical Endocrinology and Metabolism
Wen Chen
The computer-generated hologram (CGH) has been studied for many applications. In this paper, CGH is watermarked by correlated photon imaging. An input image is encoded into two cascaded phase-only masks by using the CGH principle. Subsequently, two different marks are independently encoded into one-dimensional (1D) intensity points by using correlated photon imaging (or ghost imaging), and the recorded 1D intensity points are embedded into the extracted phase masks for optical watermarking. During the decoding, the input is recovered by using two watermarked phase masks...
February 10, 2018: Applied Optics
Hélène Lasolle, Eudeline Alix, Clémentt Bonnefille, Mad-Hélénie Elsensohn, Jessica Michel, Damien Sanlaville, Pascal Roy, Gérald Raverot, Claire Bardel
Reliable interpretation of comparative genomic hybridization array (aCGH) results requires centralization and normalization of the data. We evaluated the reliability of aCGH centralization by comparing aCGH results (with classical centralization-normalization steps) to fluorescence in situ hybridization (FISH) results. In addition, we propose a method to correct centralization bias. Sixty-six pituitary tumors were analyzed (Agilent aCGH+SNP 4 × 180K microarray). For each tumor, the FISH-based log2 (ratios) of a subset of chromosomes were compared with the corresponding aCGH raw log2 (ratios)...
February 20, 2018: Genes, Chromosomes & Cancer
David Chesler, Richard Bram, Prince Antwi, Andrew T Timberlake, Michael L DiLuna, Kristopher T Kahle
INTRODUCTION: Craniosynostosis is the premature fusion of one or more cranial sutures. The cause of non-syndromic craniosynostosis has been attributed to a complex interaction among genetic, epigenetic, and environmental factors. Increased concordance rates in monozygotic twins support a genetic etiology while a concordance rate less than 100% suggests environmental and/or epigenetic influences. Here, we describe the first reported occurrence of all three children in a triplet set with non-syndromic single-suture craniosynostosis...
February 19, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Mathilde Lefebvre, Anne Dieux-Coeslier, Geneviève Baujat, Elise Schaefer, Saint-Onge Judith, Anne Bazin, Lucile Pinson, Tania Attie-Bitach, Clarisse Baumann, Melanie Fradin, Genevieve Pierquin, Sophie Julia, Chloé Quélin, Bérénice Doray, Sylvie Berg, Catherine Vincent-Delorme, Laetitia Lambert, Nadine Bachmann, Didier Lacombe, Bertrand Isidor, Nicole Laurent, Roume Joelle, Patricia Blanchet, Sylvie Odent, Dominique Kervran, Nathalie Leporrier, Carine Abel, Karine Segers, Fabienne Guiliano, Emmanuelle Ginglinger-Fabre, Angelo Selicorni, Alice Goldenberg, Salima El Chehadeh, Christine Francannet, Benedicte Demeer, Yannis Duffourd, Christel Thauvin-Robinet, Alain Verloes, Valerie Cormier-Daire, Jean Baptiste Riviere, Laurence Faivre, Julien Thevenon
BACKGROUND: Segmentation defects of the vertebrae (SDV) are non-specific features found in various syndromes. The molecular bases of SDV are not fully elucidated due to the wide range of phenotypes and classification issues. The genes involved are in the Notch signalling pathway, which is a key system in somitogenesis. Here we report on mutations identified in a diagnosis cohort of SDV. We focused on spondylocostal dysostosis (SCD) and the phenotype of these patients in order to establish a diagnostic strategy when confronted with SDV...
February 19, 2018: Journal of Medical Genetics
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