Results 121 to 130 of about 212,640 (241)

Low-level mosaic trisomy 21 due to mosaic unbalanced Robertsonian translocation of 46,XX,+21,der(21;21) (q10;q10)/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, cytogenetic discrepancy among various tissues and perinatal progressive decrease of the trisomy 21 cell line

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present prenatal diagnosis of mosaic trisomy 21 at amniocentesis associated with unbalanced Robertsonian translocation in the fetus and a favorable fetal outcome.
Chih-Ping Chen, Yi-Yung Chen, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Wayseen Wang   +5 more
doaj   +1 more source

Fat‐Containing Soft Tissue Lesions of the Limbs and Body Wall—A Pictorial Essay

Journal of Medical Imaging and Radiation Oncology, EarlyView.
ABSTRACT Lipomatous tumours are frequently encountered on imaging. The spectrum of lipomatous tumours ranges from simple lipomas, which can be monitored clinically, to high‐grade liposarcomas, which require timely, multidisciplinary management. The presence of fat within lesions may also be observed in non‐lipomatous tumours, as well as in a variety of
Kai‐Zheong Lim, Cathryn Hui
wiley   +1 more source

A cytogenetic study of breeding boars in Canada

, 2009
Chromosome abnormalities are well known for their negative impact on the reproductive performance of carriers. Such abnormalities could have severe effect on animal industries which rely heavily on efficient reproduction.
King, W.A., Coppola, G., Reyes, E.R., Coppola, G., Quach, T.A., Hart, E.J., Basrur, P.K., Quach, T.A., Villagomez, D.A.F., Villagomez, D.A.F., Pinton, A., Reyes, E.R., Pinton, Alain, King, W.A., Basrur, P.K., Hart, E.J.   +15 more
core   +1 more source

Myeloablative Busulfan, Fludarabine and Melphalan Conditioning for Allogeneic Hematopoietic Stem Cell Transplantation in Childhood Myeloid Malignancy

Asia-Pacific Journal of Clinical Oncology, EarlyView.
We report our single‐center experience of transplant outcomes with a busulfan, fludarabine and melphalan‐based conditioning regimen for children < 18 years of age. The regimen was shown to be well tolerated and effective for heavily pretreated children with high‐risk myeloid malignancies prior to allogeneic hematopoietic stem cell transplant.
Mayank Dhamija, Fiona Kerr, Hazel Gough, Johnathan Soggee, Laurence C. Cheung, Rishi S. Kotecha, Shanti Ramachandran   +6 more
wiley   +1 more source

RACIAL/ETHNIC DISPARITIES IN MYELODYSPLASTIC NEOPLASMS: CLINICAL CURRENT INSIGHTS AND FUTURE DIRECTIONS

Hematology, Transfusion and Cell Therapy
Myelodysplastic Neoplasm (MDS) encompasses a group of hematological disorders characterized by deficiencies in normal hematopoietic processes, leading to peripheral cytopenias, increased blasts in the bone marrow and peripheral blood. Some clinical signs
JVC Goes, JNFM Gusmão, EDP Junior, LR Sampaio, MML Melo, SCC Carneiro, JMGF Lima, SMM Magalhães, RF Pinheiro, HLR Junior   +9 more
doaj   +1 more source

Mesenchymal Stem Cells From a Klinefelter Syndrome Patient: Functional Characterization and Therapeutic Implications

Andrology, EarlyView.
ABSTRACT Background Cell therapy, particularly those utilizing mesenchymal stem/stromal cells (MSCs), is gaining traction as a therapeutic option for regenerative treatment in patients with limited therapeutic options. Although the safety of MSC‐based interventions is well established, uncertainties remain regarding how genetic abnormalities and ...
Marzena Zychowicz, Wioletta Lech, Anna Figiel‐Dabrowska, Marta Kot, Magdalena Murzyn, Natalia Malawska, Barbara Pienkowska‐Grela, Zuzanna Sandowska‐Markiewicz, Iwona Ziolkowska‐Suchanek, Agnieszka Zimna, Tomasz Oldak, Natalia Rozwadowska, Anna Sarnowska   +12 more
wiley   +1 more source

Analysis of imatinib in bone marrow and plasma samples of chronic myeloid leukaemia patients using solid phase extraction LC-ESI-MS [PDF]

, 2011
The LC-ESI-MS was developed and validated for the analysis of imatinib in plasma and bone marrow samples using deuterated imatinib (D(8)-IM) as an internal standard. The biological samples were extracted using Strata-X-C SPE cartridges and separated on C&
Holyoake, T.L., Jorgensen, H.G., Elliott, M., Iqbal, Z., Watson, D.G.   +4 more
core   +1 more source

Neoplastic Risk in Patients With Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Besides gonadal involvement (hypogonadism, male factor infertility, and testicular hypotrophy), patients with Klinefelter syndrome (KS) may suffer from several extra‐gonadic complications, including neoplastic events. Objective The aim of this review is to summarize all major clinical evidence dealing with the association between KS
Andrea Graziani, Giuseppe Grande, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +4 more
wiley   +1 more source

A CCNA1 Missense Variant Associated With Chromatid Non‐Disjunction in Abnormal‐Headed Sperm and Male Infertility

Andrology, EarlyView.
ABSTRACT Background Macrozoospermia is a rare form of teratozoospermia characterized by tetraploids, large‐headed spermatozoa with multiple flagella, usually caused by bi‐allelic AURKC mutations. The etiology of atypical phenotypes with a lower proportion of large headed spermatozoa and single flagella however often remains unresolved.
Aurore Perrin, Frédéric Morel, Zeina Wehbe, Cynthia Frapsauce, Nadia Gueganic, Corinne Tous, Séverine Commet, Laura Dijols, Audrey Basinko, Nathalie Douet‐Guilbert, Célia Tebbakh, Zine‐Eddine Kherraf, Pierre F. Ray, Charles Coutton, Guillaume Martinez   +14 more
wiley   +1 more source

Statistical power in UK genetic syndrome research; evidence from studies of Down syndrome, Fragile X syndrome and Williams syndrome as model syndrome groups

British Journal of Developmental Psychology, EarlyView.
Abstract Research on genetic syndromes is vital to our understanding of how development unfolds, but the rarity of genetic syndromes can mean that studies are carried out with small sample sizes. Small sample sizes can reduce the statistical power of a study to produce reliable and replicable results.
Emily K. Farran, Sophia Alexiou, Henrik Danielsson, Camilla Orefice, Laura Cristescu, Elizabeth Pellicano, Jo Van Herwegen, Gaia Scerif   +7 more
wiley   +1 more source