Results 71 to 80 of about 43,064 (280)

Diffuse Large B-Cell Lymphoma with t(1;22)(q21;q11.2) and t(6;18)(p25;q21): A Case Report

Reports
Background and Clinical Significance: This should include a brief introduction about the general medical condition or relevant symptoms that will be discussed in the case report and should succinctly summarize the critical essential clinical information ...
Toshiaki Nagaie, Yasushi Kubota, Ichiro Hanamura, Sivasundaram Karnan, Rika Tomimasu, Michiaki Akashi, Shiho Tsuruda, Akiyoshi Takami, Shinya Kimura, Masaharu Miyahara   +9 more
doaj   +1 more source

Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly

BMC Medical Genetics, 2011
Background Chromosome translocation associated with neurodevelopmental disorders provides an opportunity to identify new disease-associated genes and gain new insight into their function.
Wu Kuang-Lun, Chen Yann-Jang, Fang Jye-Siung, Liao Hsiao-Mei, Lee Kuei-Fang, Chen Chia-Hsiang   +5 more
doaj   +1 more source

Detecting structural variations with precise breakpoints using low-depth WGS data from a single oxford nanopore MinION flowcell

Scientific Reports, 2022
Structural variation (SV) is a major cause of genetic disorders. In this paper, we show that low-depth (specifically, 4×) whole-genome sequencing using a single Oxford Nanopore MinION flow cell suffices to support sensitive detection of SV, particularly ...
Henry C. M. Leung, Huijing Yu, Yifan Zhang, Wing Sze Leung, Ivan F. M. Lo, Ho Ming Luk, Wai-Chun Law, Ka Kui Ma, Chak Lim Wong, Yat Sing Wong, Ruibang Luo, Tak-Wah Lam   +11 more
doaj   +1 more source

Clinical Model‐Informed Precision Dosing Consult Service for Accelerating Personalized Medication in Pediatric Patients

Clinical Pharmacology &Therapeutics, EarlyView.
Traditional dosing strategies often rely on a “one‐size‐fits‐all” paradigm, assuming an “average” patient with typical demographic and pharmacological characteristics. In reality, this often overlooks existing between‐patient variability and can lead to suboptimal drug exposure or toxicity. This issue is especially pronounced in pediatric patients, who
Zachary L. Taylor, Takanobu Nadai, Kei Irie, Wen Rui Tan, Sanjana Parikh, Anhar Hosawi, Matthijs W. van Hoogdalem, Ronaldo Morales Junior, Sonya Tang Girdwood, Abbie D. Leino, Kana Mizuno, Alexander A. Vinks, Tomoyuki Mizuno   +12 more
wiley   +1 more source

Challenges and Pitfalls to Diagnosing NUTM1‐Rearranged Neoplasia of the Pancreas by Cytology and Ancillary Studies

Diagnostic Cytopathology, EarlyView.
ABSTRACT Fine‐needle aspiration cytology specimens are frequently utilized for ancillary studies to identify diagnostic and prognostic information. This case highlights diagnostic pitfalls and challenges in diagnosing NUTM1‐rearranged neoplasia on pancreatic cytology.
Terrance J. Lynn
wiley   +1 more source

Philadelphia-negative chronic myelogenous leukemia with breakpoint cluster region rearrangement: molecular analysis, clinical characteristics, and response to therapy.

, 1988
We have detected rearrangement in the breakpoint cluster region (bcr) on chromosome 22 in cells derived from seven chronic myelogenous leukemia (CML) patients who had no cytogenetic evidence of a chromosome abnormality. These Philadelphia (Ph)-negative,
P Romero, H Kantarjian, J Trujillo, J Schachner, M Blick, M Shtalrid, K Taylor, J U Gutterman, M Talpaz, R Kurzrock   +9 more
core   +1 more source

Establishment of Salivary Gland Tumors Arising in Salivary Gland‐Specific EWSR1::ATF1 Transgenic Mice

Head &Neck, EarlyView.
ABSTRACT Background Salivary gland carcinomas are uncommon malignancies with various histological subtypes harboring fusion genes. The EWSR1::ATF1 fusion gene, resulting from a translocation between chromosomes 12 and 22, is frequently observed in hyalinizing clear cell carcinoma (HCCC). However, the role of this fusion gene in HCCC oncogenesis remains
Yuri Hirai, Yoshitaka Utsumi, Daisuke Sano, Tatsu Kuwahara, Yoshihiro Aizawa, Takashi Hatano, Hisashi Hasumi, Yutaro Soejima, Tatsukata Kawagoe, Ryosuke Jikuya, Nobuhisa Mizuki, Satoshi Fujii, Toshitaka Nagao, Nobuhiko Oridate   +13 more
wiley   +1 more source

Impact of CLSI and EUCAST breakpoint discrepancies on reporting of antimicrobial susceptibility and AMR surveillance. [PDF]

, 2019
We investigated the impact of breakpoint discrepancies between CLSI and EUCAST on susceptibility interpretation of clinical isolates at the Microbiology Laboratory, Mahosot Hospital, Vientiane, Laos and performed a literature search to compare our ...
Dance, DAB, Turner, Paul, Cusack, TP, Wangrangsimakul, Tri, Roberts, T, Ashley, Elizabeth, Rattanavong, S, Cusack, T-P, Wangrangsimakul, T, Ashley, EA, Ling, CL, Turner, P   +11 more
core   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

High-Dose Minocycline Improves Outcomes in Acinetobacter baumannii Group Pneumonia: A Propensity-Weighted Cohort Study with MIC-Based Insights for Breakpoint Revision

Infectious Diseases and Therapy
Introduction Optimal minocycline dosing for Acinetobacter baumannii group pneumonia remains unclear. We assessed the clinical impact of high-dose (HD) versus standard-dose (SD) minocycline and explored the predictive value of susceptibility breakpoints ...
Yu-Tao Tseng, Yang-Chuan Chen, Yi-Tzu Lee, Po-Hsiang Liao, Dung-Hung Chiang, Po-Liang Chen, Tzu-Wen Huang, Yung-Chih Wang   +7 more
doaj   +1 more source