CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids

Mutations in the colony stimulating factor 1 receptor

Genome-wide association analysis identifies novel loci for chronotype in 100,420 individuals from the UK Biobank

Our sleep timing preference, or chronotype, is a manifestation of our internal biological clock. Variation in chronotype has been linked to sleep disorders, cognitive and physical performance, and chronic disease. Here we perform a genome-wide association study of self-reported chronotype within the UK Biobank cohort (n=100,420). We identify 12 new genetic loci that implicate known components of the circadian clock machinery and point to previously unstudied genetic variants and candidate genes that might modulate core circadian rhythms or light-sensing pathways. Pathway analyses highlight central nervous and ocular systems and fear-response-related processes. Genetic correlation analysis suggests chronotype shares underlying genetic pathways with schizophrenia, educational attainment and possibly BMI. Further, Mendelian randomization suggests that evening chronotype relates to higher educational attainment. These results not only expand our knowledge of the circadian system in humans but also expose the influence of circadian characteristics over human health and life-history variables such as educational attainment

The Effects of the PRNP Gene on Circadian Rhythms

Fatal Familial Insomnia is a rare genetic disorder affecting about 27 families worldwide, caused by mutations in the prion protein gene PRNP. Symptoms include loss of sleep and disrupted circadian rhythms. The function of PNRP in circadian rhythms is not well understood. The goal of this project was to create a cellular PRNP gene knockout and test the effects on circadian proteins using novel circadian luciferase reporter assays. The results indicate that one CRISPR-treated WI-38 cell line contains a disrupted coding region for PRNP, so this cell line can be used in future experiments to observe potential alterations in the expression of several cellular circadian rhythm proteins in the absence of PRNP

An Evaluation of Sea Cucumber Fishing in Puerto Rico

The Department of Natural and Environmental Resources (DNER) required information on the status of sea cucumber fishing in Puerto Rico. The team researched this subject and supplied the DNER with updated material regarding the status of sea cucumber fishing and regulations throughout the Caribbean region. We determined that commercial sea cucumber fishing has ceased in Puerto Rico through the use of interviews with DNER employees and administering questionnaires to sea cucumber fishermen. We recommend the DNER continue the investigation and consider implementing regulations on sea cucumber harvesting in order to prevent from exploitation in the future which could cause significant damage to the oceanic environment

Circadian rhythms in plasma brain-derived neurotrophic factor differ in men and women

The measurement of circulating levels of brain-derived neurotrophic factor (BDNF) has been proposed to be a marker of disease and an indicator of recovery. Thus, knowing the temporal pattern and influence of potential circadian rhythms is important. Although several studies have measured BDNF at different times of day, no studies have done so while controlling for potential masking influences such as sleep and activity. Further, no previous study has examined circadian rhythms within individuals. We examined circadian rhythms in plasma BDNF while minimizing masking from behavioral and environmental factors using a 30-h constant routine (CR) protocol. In a sample of 39 healthy adults, we found significant circadian rhythms in 75% of women and 52% of men. The timing of the acrophase of the BDNF rhythm, however, was unrelated to clock time in women, while it was related to clock time in men. These results indicate that the use of single-sample measures of plasma BDNF as a marker of disease will be unreliable, especially in women. Repeated plasma BDNF samples over a 24-h period within individuals would be needed to reveal abnormalities related to disease states. </jats:p

Living with Long-Term Pain after a Stroke

The general aim of this thesis was to classify and describe long-term pain two years after a stroke and to describe the experiences of pain, and the consequences it has on the persons’ lives. The studies were conducted from a multidimensional perspective on pain, combining quantitative and qualitative methods. Three types of long-term pain were classified and described among the 43 participants included, aged 33-82 years. These were central post-stroke pain, nociceptive, mainly shoulder pain, and tension-type headache. Pain onset, within one to six months in most of the cases was after discharge from the hospital. Continuous pain or pain almost every day was reported by nearly two-thirds. The pain was mostly described as troublesome, annoying and tiring in all pain groups. The rating of pain intensity revealed individual differences among the participants within the pain groups. In addition to long-term pain, the participants suffered several impairments and nearly half of them were dependent on others, and two-thirds on assistive devices. Several coping strategies were described, most often problem-focused. Their health-related quality of life was decreased, mostly related to their long-term pain and physical impairments. Their experiences of caring revealed the need of improvements in knowledge about longterm pain, attention and understanding among the professionals, and continuity in the contacts.On the day of the public defence the status of article III was: Accepted for publication and the status of article IV was: In press.</p