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Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencingNARA Subscribed
Lynch syndrome, the most common hereditary cancer syndrome, is caused by germline pathogenic variants in DNA mismatch repair (MMR) genes. Identifying complex or structural MMR gene pathogenic variants can be challenging with short-read sequencing resulting in patients with unexplained MMR-deficient tumours. In this study, we report multiple members of a family who developed MSH2-deficient tumours where clinical multi-gene pane...
Purpose Wheelchair users are at increased risk of low bone mineral density (BMD). While BMD varies by sport among Paralympic athletes, it remains unclear whether sports participation protects against low BMD in the impaired population. This study compared BMD at several skeletal sites between sports-active and non-sports-active wheelchair users. Methods This study presents cross-sectional analyses of adult (18–60 years) wheelc...
Over recent decades, the eastern North Pacific Ocean (ENP) has undergone significant climate-driven change, characterized by rising sea surface temperatures (SSTs), a northward expansion of the North Pacific Transition Zone (NPTZ), and more frequent marine heatwaves. Juvenile North Pacific loggerhead sea turtles ( Caretta caretta ), a highly mobile species sensitive to environmental variability, have emerged as a sentinel spec...
Repeated fentanyl abstinence intensifies opioid withdrawal and induces a proinflammatory state in striatal microgliaNARA Subscribed
Rationale Opioid withdrawal is a serious obstacle to self-initiated abstinence, and previous experiences of opioid withdrawal may exacerbate the severity of subsequent incidences. Methods To study the impact of repeated opioid withdrawal episodes, we compared male and female mice after one or five cycles of fentanyl exposure and withdrawal. We selectively expressed hemagglutinin-tagged ribosomes (RiboTag) in microglia of trans...
Access to freshwater has always been a critical factor in sustaining human settlements, especially in regions with limited water resources. In the Mediterranean region, where dry summers and karst landscapes limit water availability, ancient societies developed advanced methods for collecting and storing rainwater. Among these, cisterns played an important role in securing drinking water supplies. Despite their historical impo...
Rancho La Brea (RLB) in Los Angeles, USA, is an iconic fossil locality, owing to the high number and diversity of Quaternary vertebrate remains and their excellent preservation. More than a century of study, focused predominantly on large mammals, has provided valuable information along different lines of research, including taxonomy, taphonomy, isotopic ecology, functional morphology, and paleopathology. In order to develop a...
The North Pacific Transition Zone (NPTZ) is known as a global marine hotspot for many endangered and commercially significant highly mobile marine species. In the last few decades, the region has undergone unprecedented physical and biological transformations in response to climate variability and change. Although it is anticipated that many highly mobile species will need to adapt and shift their distributions, current predic...
Rationale The opioid crisis persists despite availability of effective opioid agonist maintenance treatments (methadone and buprenorphine). Thus, there is a need to advance novel medications for the treatment of opioid use and relapse. Objectives We recently modeled maintenance treatment in rats and found that chronic delivery of buprenorphine and the mu opioid receptor (MOR) partial agonist TRV130 decreases relapse to oxycodo...