Publications by authors named "K J Bachman"
Previous studies have suggested that early scheduling of the surgical stabilization of rib fractures (SSRF) is associated with superior outcomes. It is unclear if these data are reproducible at other institutions. We hypothesized that early SSRF would be associated with decreased morbidity, length of stay, and total charges.
View Article and Find Full Text PDFColorectal cancers (CRCs) form a heterogenous group classified into epigenetic and transcriptional subtypes. The basis for the epigenetic subtypes, exemplified by varying degrees of promoter DNA hypermethylation, and its relation to the transcriptional subtypes is not well understood. We link cancer-specific transcription factor (TF) expression alterations to methylation alterations near TF-binding sites at promoter and enhancer regions in CRCs and their premalignant precursor lesions to provide mechanistic insights into the origins and evolution of the CRC molecular subtypes.
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- Researchers found 15 new genetic variants in the PSMC3 gene, linked to a specific type of neurodevelopmental delay and intellectual disability in 23 unrelated patients.
- Mouse and fruit fly experiments showed that these variants hindered normal neuron growth and learning abilities.
- The variants were shown to disrupt proteasome function, leading to cellular stress and abnormal immune responses, suggesting a connection between proteasome issues and neurodevelopmental disorders.
Article Synopsis
- Axenfeld-Rieger syndrome (ARS) is a rare genetic disorder characterized by eye anomalies and potential systemic features, with varying subtypes linked to specific genes that influence the severity and type of symptoms.
- A study examined 128 individuals with genetic variants related to ARS, revealing a range of ocular anomalies and distinct systemic features for different gene types, including high rates of dental and heart defects.
- The findings emphasize the importance of gene-specific diagnoses for ARS, as clinical features can significantly differ based on the affected gene, and suggest that the De Hauwere syndrome may be related to the FOXC1 gene.
NCCN guidelines suggest that at least 15 lymph nodes (LN) should be evaluated at the time of esophagectomy to consider the lymphadenectomy 'adequate'. Despite these guidelines, this may not always be achieved in practice. The purpose of this study was to determine factors associated with adequate lymphadenectomy among patients receiving minimally invasive esophagectomy (MIE).
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