Publications by authors named "E Mardis"
Background: Post-hemorrhagic hydrocephalus (PHH) is a severe complication in premature infants following intraventricular hemorrhage (IVH). It is characterized by abnormal cerebrospinal fluid (CSF) accumulation, disrupted CSF dynamics, and elevated intracranial pressure (ICP), leading to significant neurological impairments.
Objective: This review provides an overview of recent molecular insights into the pathophysiology of PHH and evaluates emerging therapeutic approaches aimed at addressing its underlying mechanisms.
Article Synopsis
- Comprehensive next generation sequencing (NGS) is being explored for its potential in diagnosing and treating pediatric hematologic malignancies, but its effectiveness is not yet fully established.
- The study involved comprehensive genomic profiling of 28 patients at a pediatric care center, utilizing exome and RNA sequencing to analyze various genetic changes.
- Of the 18 patients who underwent both germline and somatic sequencing, 83% had cancer-related findings, with targeted therapies beneficial for some, leading to long-term remission in a few cases.
Computational tools for predicting variant pathogenicity are widely used to support clinical variant interpretation. Recently, several models, which do not rely on known variant classifications during training, have been developed. These approaches can potentially overcome biases of current clinical databases, such as misclassifications, and can potentially better generalize to novel, unclassified variants.
View Article and Find Full Text PDFAdrenocortical carcinoma (ACC) is a rare endocrine malignancy with a poor prognosis and limited treatment options. Bulk genomic characterization of ACC has not yielded obvious therapeutic or immunotherapeutic targets, yet novel therapies are needed. We hypothesized that elucidating the intratumoral cellular heterogeneity by single nuclei RNA sequencing analyses would yield insights into potential therapeutic vulnerabilities of this disease.
View Article and Find Full Text PDFBackground: Neoantigen vaccines can induce or enhance highly specific antitumor immune responses with minimal risk of autoimmunity. We have developed a neoantigen DNA vaccine platform capable of efficiently presenting both HLA class I and II epitopes and performed a phase 1 clinical trial in triple-negative breast cancer patients with persistent disease on surgical pathology following neoadjuvant chemotherapy, a patient population at high risk of disease recurrence.
Methods: Expressed somatic mutations were identified by tumor/normal exome sequencing and tumor RNA sequencing.