The algorithm we have developed, predicting biochemical failure based on routine clinical tests, could be especially useful for patients destined for short-lived ADT responses and quick progression to CRPC. Prospective studies must validate the utility of the algorithm for clinical decision-making.
Purpose The authors report a seven-year-old male, designated FR, with severe sensorineural hearing loss. Features include round face, hypertelorism, epicanthal folds, and flat nasal root. Although there were early developmental concerns, all but his speech delay resolved when he was placed in an educational program that accommodated his hearing loss. To investigate genetic causes for his hearing loss, genetic studies were performed. Methods History, physical examination, audiologic assessment, and imaging were performed according to usual practice. FMR1, GJB2, GJB6, and POU3F4 genes were sequenced. Chromosomal studies consisted of karyotyping and breakpoint analysis by fluorescence in situ hybridization (FISH). Results Results from FMR1, GJB2, GJB6, and POU3F4 sequencing and echocardiography, ECG, and abdominal ultrasound were normal. CT revealed a large fundus of the internal auditory canals and absence of the bony partition between the fundus and the adjacent cochlear turns with a widened modiolus bilaterally. CT findings are consistent with those described in persons with DFNX2 hereditary deafness. His karyotype was 46,inv(X)(q13q24),Y.ish inv(X)(XIST+)mat. FISH refined the breakpoints to inv(X)(q21.1q22.3). The Xq21.1 breakpoint was narrowed to a 25 kb region 450 kb centromeric to the DFNX2 gene, POU3F4. There are rare case reports of DFNX2 patients with chromosomal rearrangements positioned centromeric to POU3F4 and no mutations within the gene. Conclusions We hypothesize that FR's hearing loss is caused by dysregulation of POU3F4 due to separation from regulatory elements affected by the inversion.
Purpose -The purpose of this paper is to outline a unique six-step process for the inclusion of climate change adaption goals and strategies in a University Climate Change Plan. Design/methodology/approach -A mixed-method approach was used to gather data on campus climate change vulnerabilities and adaption strategies. A literature review highlighted common themes in adaption research. Meetings, surveys, and a specialized workshop with climate scenarios were created to elicit campus and community input. Findings -The majority of the peer-reviewed and grey literature surrounding climate change adaptation planning is aimed at larger levels of organization than a University campus (e.g. nations, populations, regions, and cities). An original planning process was created to identify vulnerabilities, risks and strategies. Key vulnerabilities fell into three main areas of concern: energy, transportation, and built environment. Adaptation goals, objectives and strategies were outlined for the Dalhousie University Climate Change Plan, based on risk levels associated with vulnerabilities.Research limitations/implications -The adaption survey and workshop was created for this research. Small improvements were suggested for future use. The six weather scenarios presented at the workshop emphasized extreme events. Some participants felt that scenarios should be developed that feature smaller climate changes over a longer period of time. The prioritization activity used to establish risk needed to clarify the definition of risk being used. Future scenarios could include more consideration of socio-economic factors. Originality/value -Specific planning frameworks to create campus-level climate adaptation strategies are sparse. A unique planning framework and workshop was developed to identify key climate change adaption strategies for universities.
Coronavirus disease 2019 (COVID-19) has challenged the healthcare system’s capacity to care for acutely ill patients. In a collaborative partnership between a health system and a skilled nursing facility (SNF), we developed and implemented a SNF COVID-19 unit to allow expedited hospital discharge of COVID-positive older adults who are clinically improving, and to provide an alternative to hospitalization for those who require SNF care but do not require or necessarily desire aggressive disease-modifying interventions.
This study tested the potential of circulating RNA-based signals as predictive biomarkers for docetaxel response in patients with metastatic castration-resistant prostate cancer (CRPC). RNA was analyzed in blood from six CRPC patients by whole-transcriptome sequencing (total RNA-sequencing) before and after docetaxel treatment using the Illumina’s HiSeq platform. Targeted RNA capture and sequencing was performed in an independent cohort of ten patients with CRPC matching the discovery cohort to confirm differential expression of the genes. Response to docetaxel was defined on the basis of prostate-specific antigen levels and imaging criteria. Two-way analysis of variance was used to compare differential gene expression in patients classified as responders versus nonresponders before and after docetaxel treatment. Thirty-four genes with two-fold differentially expressed transcripts in responders versus nonresponders were selected from total RNA-sequencing for further validation. Targeted RNA capture and sequencing showed that 13/34 genes were differentially expressed in responders. Alpha defensin genes DEFA1, DEFA1B, and DEFA3 exhibited significantly higher expression in responder patients compared with nonresponder patients before administration of chemotherapy (fold change >2.5). In addition, post-docetaxel treatment significantly increased transcript levels of these defensin genes in responders (fold change >2.8). Our results reveal that patients with higher defensin RNA transcripts in blood respond well to docetaxel therapy. We suggest that monitoring DEFA1, DEFA1B, and DEFA3 RNA transcripts in blood prior to treatment will be helpful to determine which patients are better candidates to receive docetaxel chemotherapy.
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