Results 51 to 60 of about 132,104 (228)

Philadelphia chromosome-positive Acute Lymphoblastic Leukemia [PDF]

Hematology, 2015
Philadelphia chromosome-positive Acute Lymphoblastic ...
FORGHIERI, Fabio, LUPPI, Mario, POTENZA, Leonardo   +2 more
openaire   +3 more sources

Early Surgery Reduces Psychiatric and Learning Disorder Risk in Pediatric Sleep‐Disordered Breathing

The Laryngoscope, EarlyView.
ABSTRACT Objective To determine whether the type and timing of intervention for pediatric sleep‐disordered breathing (SDB) affect the risk of developing neuropsychiatric and learning disorders. Methods A retrospective cohort study using TriNetX, from January 2016 to March 2025, was conducted.
Daniel J. Campbell, W. Jack Palmer, Leonard E. Estephan, Hani Samarah, Elliott Sina, Nicole Aaronson, William Parkes   +6 more
wiley   +1 more source

Mutations Associated with Imatinib Mesylate Resistance - Review

Folia Medica, 2018
Chronic myeloid leukemia (CML) arises from the fusion of the BCR and the ABL1 genes. The BCR gene (chromosome 22q11.2) and the ABL1 gene (chromosome 9q34) fuse together due to reciprocal chromosome translocation forming the Philadelphia chromosome (Ph ...
Linev Alexandar J., Ivanov Hristo J., Zhelyazkov Ivan G., Ivanova Hristina, Goranova-Marinova Veselina S., Stoyanova Vili K.   +5 more
doaj   +1 more source

Genome-wide association studies of the self-rating of effects of ethanol (SRE). [PDF]

, 2020
The level of response (LR) to alcohol as measured with the Self-Report of the Effects of Alcohol Retrospective Questionnaire (SRE) evaluates the number of standard drinks usually required for up to four effects. The need for a higher number of drinks for
Agrawal, Arpana, Dick, Danielle, Edenberg, Howard J, Farris, Sean, Foroud, Tatiana, Goate, Alison, Goldman, David, Hesselbrock, Victor, Johnson, Emma C, Joslyn, Geoff, Kapoor, Manav, Kramer, John, Lai, Dongbing, Liu, Yunlong, Mayfield, R Dayne, McCutcheon, Vivia V, Nurnberger, John, Porjesz, Bernice, Ramchandani, Vijay A, Rao, Xi, Schuckit, Marc, Schwandt, Melanie, Tischfield, Jay, Wetherill, Leah   +23 more
core   +2 more sources

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

BCR/ABL1 fluorescence in situ hybridization fusion signals on both copies of chromosome 22 in a Philadelphia-masked chronic myeloid leukemia case: implication for the therapy

Hematology Reports, 2021
The cytogenetic hallmark of Chronic Myeloid Leukemia (CML) is the presence of Philadelphia (Ph) chromosome, which results from a reciprocal translocation t(9;22)(q34;q11).
Silvia Soriani, Valentina Guido, Giambattista Bertani, Clara Cesana, Valentina Motta, Gabriella De Canal, Elena De Paoli, Silvio Veronese, Emanuela Bonoldi, Lorenza Romitti   +9 more
doaj   +1 more source

Philadelphia chromosome duplication as a ring-shaped chromosome [PDF]

Molecular Cytogenetics, 2016
La obtención de una segunda copia del cromosoma Filadelfia es uno de los principales cambios cromosómicos secundarios relacionados con la evolución clonal de las células con t(9;22) en la leucemia mielógena crónica. Esta ganancia provoca la adquisición de otra copia del gen de fusión BCR/ABL1.
César Borjas-Gutiérrez, Juan Ramón González-García   +1 more
openaire   +2 more sources

The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors

Andrology, EarlyView.
ABSTRACT Background The Testicular Cancer Consortium (TECAC) was established in 2012 and is comprised of researchers from over 25 centers in Europe and North America. TECAC's overarching goal is to investigate the genetic susceptibility of testicular germ cell tumors (TGCT) to better understand their biology, impact prevention strategies, and inform ...
Peter A. Kanetsky, Kristian Almstrup, Svetlana Cherlin, Victoria K. Cortessis, Alberto Ferlin, Jourik A. Gietema, Anna González‐Neira, Tom Grotmol, Robert J. Hamilton, Trine B. Haugen, Lambertus A. Kiemeney, Jung Kim, Csilla Krausz, Davor Lessel, Ragnhild A. Lothe, Kevin T. Nead, Jérémie Nsengimana, Jenny N. Poynter, Ewa Rajpert‐DeMeyts, Lorenzo Richiardi, Stephen M. Schwartz, Rolf I. Skotheim, Douglas R. Stewart, Clare Turnbull, Fredrik Wiklund, Tongzhang Zheng, Katherine L. Nathanson, Katherine A. McGlynn, for the Testicular Cancer Consortium   +28 more
wiley   +1 more source

Age‐ and Sex‐Adjusted Body Mass Index Increases in Childhood Acute Lymphoblastic Leukaemia Patients From Diagnosis to Five‐Year Follow‐Up

Acta Paediatrica, EarlyView.
ABSTRACT Aim Children with acute lymphoblastic leukaemia (ALL) are at risk of metabolic and cardiovascular complications. We evaluated the development of overweight and obesity for 5 years after diagnosis in children and adolescents treated for ALL. Methods The medical records of children diagnosed with ALL at one centre during 2000–2018 were assessed.
Aino Kytömäki, Anu Huurre, Päivi M. Lähteenmäki, Tero Vahlberg, Liisa S. Järvelä   +4 more
wiley   +1 more source

“Preleukemic or smoldering” chronic myelogenous leukemia (CML):BCR-ABL1 positive: A brief case report

Leukemia Research Reports, 2015
Chronic myelogenous leukemia (CML), in the Chronic Phase (CP), is often suspected as a result of a complete blood count (CBC), which shows increased granulocytes, mostly mature including a peak in myelocytes, increased basophils, and rarely blasts and/or
John M. Bennett, Kevin G. Dsouza, Mehul Patel, Kristen O’Dwyer   +3 more
doaj   +1 more source