Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes.

Inherited bone marrow failure syndromes (IBMFS) including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome are rare genetic disorders characterized by hematologic complications and increased risk of cancer. Patients and their families likely experience obstacles in obtaining sufficient health information given their disorders' rarity. To investigate this possibility, we examined information-seeking behaviors and levels of general and disorder-specific genetic knowledge among 315 members of 174 families with an IBMFS, and how information-seeking behaviors and socio-demographic factors may be associated with their genetic knowledge. Cross-sectional survey data indicated that participants were most likely to have ever used the Internet or healthcare providers for genetic information. On average, participants correctly answered 57 % of items assessing general genetic knowledge and 49-59 % of disorder-specific knowledge items. Greater knowledge was associated with greater education and ever experiencing genetic counseling, attending a scientific meeting, and seeking information from the Internet and scientific literature. Among families with Fanconi anemia (whose family support organization has the longest history of providing information), greater disorder-specific genetic knowledge was also associated with seeking information from support groups and other affected families. Results suggest that families with IBMFS have uncertainty regarding genetic aspects of their disorder, and highlight potential channels for delivering educational resources.

Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients.

To assess psychosocial functioning and quality of life in a representative group of adult and young patients with Shwachman-Diamond syndrome (SDS), all patients 3 years old and over included in the Italian SDS Registry were investigated using an ad-hoc questionnaire for information about demography, education, socialization, rehabilitation therapy, and standardized questionnaires [SF-36, Child Behavior Check-List (CBCL)] for quality of life and behavior. Results were compared with those of a Cystic Fibrosis (CF) patient group, matched for age and sex. Eighty-one percent of patients answered. All but one adult patient lived with their parents, 24% had independent income, and 57% had a driver's license. Different levels (from mild to severe) of cognitive impairment were reported by 76% of the adults and by 65% of the young patients. These data are significantly lower than those of the CF group. Both groups present low scores in the emotional and mental health evaluations at SF-36, but SDS patients reported significantly more limitations in physical functioning (PF) and more body pain (BP) experiences. As reported by parents at CBCL, young SDS patients show more "social problems" (in the clinical area 31% SDS vs. 6% CF), "attention deficits disorder" (29% SDS vs. 0%CF), and "somatic complaints" (24% SDS vs. 12% CF). Psychosocial functioning is impaired in the majority of SDS patients, significantly more than in patients affected by CF.

Holistic Nursing Upon the Knowledge on Care During Myelosuppression among Cancer Patients.

BACKGROUND: A study was conducted to assess the effectiveness of holistic nursing intervention upon the knowledge regarding care during myelosupression among patients with cancer at a selected hospital in Chennai, India. METHODS: A quantitative research approach of quasi experimental non-equivalent with control group before -after design (non randomized) was used. The investigator included 204 participants by using purposive sampling technique which included 102 each in study and comparison group. Pre-test was done before the intervention of holistic nursing to both comparison and study group participants. Holistic nursing intervention was implemented for study group whereas comparison group received routine care. Post test was done by using the structured questionnaire after 1month. The responses from the participants were coded and statistically analyzed by using descriptive and inferential statistics. RESULTS: The knowledge scores obtained by study group was significantly higher (13.32+2.94) when compared to comparison group (8.12+2.04). There was a statistically significant difference between study and comparison group participants, at p< 0.001. With regard to the dimensions of knowledge related to disease condition and signs and symptoms were higher in the study group when compared to the comparison group. The difference was statistically significant at p.

Mediating Role of Bone Marrow Lesions, Synovitis, Pain Sensitization, and Depressive Symptoms on Knee Pain Improvement Following Substantial Weight Loss.

OBJECTIVE: Massive weight loss leads to marked knee pain reduction in individuals with knee pain, but the reason for the reduction in pain is unknown. This study was undertaken to quantify the contribution of magnetic resonance imaging (MRI)-evidenced changes in pain-sensitive structures, bone marrow lesions (BMLs), and synovitis, and changes in pain sensitization or depressive symptoms, to knee pain improvement after substantial weight loss. METHODS: Morbidly obese patients with knee pain on most days were evaluated before bariatric surgery or medical weight management and at 1-year follow-up for BMLs and synovitis seen on MRI, the pressure pain threshold (PPT) at the patella and the right wrist, depressive symptoms (using the Center for Epidemiologic Studies Depression scale [CES-D]), and Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) pain survey. Natural-effects models were used to quantify the extent that achieving a minimum clinically important difference (MCID) of ≥18% on the WOMAC pain scale could be mediated by weight loss-induced changes in BMLs, synovitis, PPT, and depressive symptoms. RESULTS: Of 75 participants, 53.3% lost ≥20% of weight by 1 year. Of these, 75% attained the MCID for pain improvement, compared with 34.3% in those who had <20% weight loss. Mediation analyses suggested that, in those with at least 20% weight loss, the odds of pain improvement increased by 62%, 15%, and 22% through changes in patella PPT, wrist PPT, and CES-D, respectively, but pain improvement was not mediated by MRI changes in BMLs or synovitis. CONCLUSION: Weight loss-induced knee pain improvement is partially mediated by changes in pain sensitization and depressive symptoms but is independent of MRI changes in BMLs and synovitis.

Psychological preparation for pediatric oncology patients undergoing painful procedures: a methodological critique of the research.

Hypnosis and cognitive-behavioral packages are effective in preparing pediatric oncology patients for bone marrow aspiration and lumbar puncture. However, the relative efficacy of different preparations has not been determined, and potent components of preparation packages have yet to be identified. Further, factors hypothesized to moderate effectiveness of preparation (e.g., cognitive development) have not been investigated. Finally, due to a failure to employ process measures, the extent to which hypothesized mediators of behavior change (e.g., self-efficacy) are modified by preparation is unclear. Following an overview of empirical investigations, we make recommendations for addressing these limitations in future research.