A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia [0.03%]
具有TP53和PTEN突变的共同起源克隆导致同期生精细胞肿瘤和急性巨核细胞白血病
Charles Lu,Peter Riedell,Christopher A Miller et al.
Charles Lu et al.
We report the findings from a patient who presented with a concurrent mediastinal germ cell tumor (GCT) and acute myeloid leukemia (AML). Bone marrow pathology was consistent with a diagnosis of acute megakaryoblastic leukemia (AML M7), and...
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features [0.03%]
CHAMP1新发致病性变异与全面发育迟缓、智力障碍和特殊面容相关
Akemi J Tanaka,Megan T Cho,Kyle Retterer et al.
Akemi J Tanaka et al.
We identified five unrelated individuals with significant global developmental delay and intellectual disability (ID), dysmorphic facial features and frequent microcephaly, and de novo predicted loss-of-function variants in chromosome align...
Salivary FOXP2 expression and oral feeding success in premature infants [0.03%]
唾液FOXP2表达与早产儿经口喂养成功的关系研究
Emily Zimmerman,Monika Maki,Jill Maron
Emily Zimmerman
The objective of the study is to determine whether salivary FOXP2 gene expression levels at the initiation of oral feeding attempts are predictive of oral feeding success in the premature newborn. In this prospective study, saliva samples f...
Emily Zimmerman,Jill L Maron
Emily Zimmerman
Forkhead box protein P2 (FOXP2) is a well-studied gene known to play an essential role in normal speech development. Deletions in the gene have been shown to result in developmental speech disorders and regulatory disruption of downstream g...
Long-term changes of bacterial and viral compositions in the intestine of a recovered Clostridium difficile patient after fecal microbiota transplantation [0.03%]
粪便微生物移植后艰难梭菌感染治愈患者肠道病毒及细菌的长期变化规律研究
Felix Broecker,Jochen Klumpp,Markus Schuppler et al.
Felix Broecker et al.
Fecal microbiota transplantation (FMT) is an effective treatment for recurrent Clostridium difficile infections (RCDIs). However, long-term effects on the patients' gut microbiota and the role of viruses remain to be elucidated. Here, we ch...
Clary B Clish
Clary B Clish
Metabolomics, which is defined as the comprehensive analysis of metabolites in a biological specimen, is an emerging technology that holds promise to inform the practice of precision medicine. Historically, small numbers of metabolites have...
Lessons learned from the application of whole-genome analysis to the treatment of patients with advanced cancers [0.03%]
泛基因组分析在晚期癌症患者治疗中的应用经验教训
Janessa Laskin,Steven Jones,Samuel Aparicio et al.
Janessa Laskin et al.
Given the success of targeted agents in specific populations it is expected that some degree of molecular biomarker testing will become standard of care for many, if not all, cancers. To facilitate this, cancer centers worldwide are experim...
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay [0.03%]
AHDC1基因的从头截短突变与智力障碍和发育迟缓相关
Hui Yang,Ganka Douglas,Kristin G Monaghan et al.
Hui Yang et al.
Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using WES, we identified seven unrelated patients with a simil...
Complete hematologic response of early T-cell progenitor acute lymphoblastic leukemia to the γ-secretase inhibitor BMS-906024: genetic and epigenetic findings in an outlier case [0.03%]
早幼T细胞先白血病对γ-分泌酶抑制剂BMS-906024产生完全血液学反应的遗传和表观遗传学发现：一例离群值分析结果
Birgit Knoechel,Ami Bhatt,Li Pan et al.
Birgit Knoechel et al.
Notch pathway antagonists such as γ-secretase inhibitors (GSIs) are being tested in diverse cancers, but exceptional responses have yet to be reported. We describe the case of a patient with relapsed/refractory early T-cell progenitor acut...
Ralph J DeBerardinis,Elaine R Mardis
Ralph J DeBerardinis