BACKGROUND A diagnosis of breast cancer and treatment are psychologically stressful events, particularly over the first year after diagnosis. Women undergo many demanding and anxiety-arousing treatments such as surgery, radiation and chemotherapy. Psychosocial interventions that promote psychosocial adaptation to these challenges may modulate physiological processes (neuroendocrine and immune) that are relevant for health outcomes in breast cancer patients. METHODS Women with Stage 1 – 3 breast cancer recruited 4 – 8 weeks after surgery were randomized to either a 10-week group-based cognitive behavioral stress management (CBSM) intervention or a 1-day psychoeducational control group and completed questionnaires and late afternoon blood samples at study entry and 6 and 12 months after assignment to experimental condition. RESULTS Of 128 women initially providing psychosocial questionnaire and blood samples at study entry, 97 provided complete data for anxiety measures and cortisol analysis at all time points, and immune assays were run on a subset of 85 of these women. Those assigned to a 10-week group-based CBSM intervention evidenced better psychosocial adaptation (lower reported cancer-specific anxiety and interviewer-rated general anxiety symptoms) and physiological adaptation (lower cortisol, greater Th1 cytokine [interleukin-2 and interferon-γ production and IL-2:IL-4 ratio) after their adjuvant treatment compared to those in the control group. Effects on psychosocial adaptation indicators and cortisol appeared to hold across the entire 12-month observation period. Th1 cytokine regulation changes held only over the initial 6-month period. CONCLUSIONS This intervention may have facilitated a “recovery or maintenance” of Th1 cytokine regulation during or after the adjuvant therapy period. Behavioral interventions that address dysregulated neuroendocrine function could play a clinically significant role in optimizing host immunologic resistance during a vulnerable period.

Denaturing high-performance liquid chromatography analysis of RNA samples extracted from the biopsied skeletal muscle followed by DNA sequencing is a highly efficient methodology for RYR1 mutation detection. This approach allows increasing the rate of mutation detection to 70% and identifying mutations in the entire RYR1 coding region.

Background-The period just after surgery for breast cancer requires psychosocial adaptation and is associated with elevated distress. Distress states have been associated with decreased cellular immune functioning in this population, which could have negative effects on physical recovery. However little is known about relations between psychological status (negative and positive mood states and overall quality of life) and cellular signaling cytokines that could account for these associations in women undergoing treatment for breast cancer.

Objective-The current study aimed to determine the frequency of sleep disturbances in women prior to adjuvant therapy for breast cancer (BCa), and whether greater sleep dysfunction uniquely predicts poorer functional outcomes.Method-We assessed subjective sleep reports and associated them with multiple indicators of psychosocial adaptation in 240 women with Stage I -III BCa before they had begun adjuvant treatment.Results-The average global score on the Pittsburgh Sleep Quality Index (PSQI) was 8.49 (SD = 4.16); 54% scoring above the suggested adjusted cutoff for cancer populations of 8.0. Controlling for various medical, sociodemographic, and psychosocial covariates, multiple regression analyses revealed that higher global PSQI score was significantly associated with poorer functional wellbeing, greater fatigue intensity, greater disruptions in social interactions, and lower positive states of mind. Specifically, a poorer 'sleep efficiency' PSQI component was associated with poorer functional quality of life and the SIP -Social Interactions subscale, while a poorer 'sleep quality' PSQI component was associated with all of the outcomes except for the SIP -Recreations and Pastimes subscale. Conclusions-Resultsindicate consistent associations between a clinical indicator of sleep dysfunction, particularly those subscales of the PSQI comprising the 'sleep quality' component, and multiple indicators of psychosocial adaptation among women treated for BCa, independent of anxiety and depression, and suggest the value of comprehensive psychosocial interventions that consider sleep problems. The present study examined women with breast cancer in the weeks after surgery (i.e., lumpectomy or mastectomy) and before adjuvant treatment had begun. At this point, physical symptoms and interference in daily life were quite high. Post-surgical issues included reduced satisfaction with physical appearance (particularly the chest), physical sensations (e.g., numbness, tightness, and swelling), reduced energy levels, pain, sleep problems, and decreased quality of life [3][4][5]. Many of the women in the present study were also preparing to undergo adjuvant treatment (e.g., chemotherapy, radiation, or tamoxifen), and may have been experiencing anticipatory anxiety [6]. KeywordsAlthough sleep has been investigated in a similar sample of women with BCa before chemotherapy [2], it has not, to our knowledge, been systematically related to a theoretically derived set of indicators of psychosocial adaptation while controlling for a range of relevant covariates. The current study aimed to (a) determine the frequency of sleep disturbances in women prior to adjuvant therapy for breast cancer, and (b) determine whether greater sleep dysfunction uniquely predicts poorer functional outcomes. With a larger sample than previously studied [2], the current study is powered to examine the unique contribution of sleep to function. Method Participants and ProceduresParticipants were 240 non-metastatic BCa patients participating in a clinical tr...

Hereditary spastic paraplegia is a heterogeneous group of inherited neurodegenerative disorders in which the predominant clinical feature is gait disturbance owing to spasticity and weakness of the lower limbs. Autosomal dominant hereditary spastic paraplegia is the predominant form of the disorder. To date, 10 autosomal dominant hereditary spastic paraplegia gene loci and genes for 6 of them have been identified. Spastic paraplegia 6, with a typical teenage onset and considered to be one of the more severe forms of the disease, is due to mutations in the gene NIPA1. We report a childhood-onset, aggressive, spastic paraparesis in a North American family with a c.316G>A mutation of the NIPA1 gene, confirming c.316 as a mutational hot spot.