The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review

Purpose

Osteogenesis imperfecta (OI) is a genetic disorder (prevalence: 1:10,000), leading to bone fragility, frequent fractures, and varying degrees of physical limitations. Despite a substantial amount of research on the genetics, pathophysiology, and treatments related to OI, there remains a paucity of knowledge concerning the lived psychosocial experience of the OI population. This mixed-methods systematic review aimed to review, appraise, and synthesize the literature on the psychosocial experience of children and adults with OI with the goal of identifying implications for research, practice, and policy-making.

Methods

Using a systematic methodology, quantitative, qualitative, and mixed-methods studies were accessed through database searching, screened, assessed for eligibility, and appraised. Data from the selected studies fulfilling the eligibility and quality criteria were extracted and synthesized using thematic analysis with an inductive approach.

Results

A total of four qualitative and 20 quantitative studies, with various study designs and methodologies ranging in quality, were included in the review (n = 800; comprising 610 children and 175 adults with OI types I, III, IV, and V, ten parents and five healthcare professionals). Six themes were identified: intellectual feats, isolation and feeling different, fear of fractures, coping with challenges, adapting by learning new skills, and social relationships.

Conclusion

These findings highlighted key aspects of the experiences of children and adults with OI and will be essential for improving the quality and direction of research, tailoring clinical interventions addressing the psychosocial needs and quality of life of individuals with OI, and raising awareness among caregivers, healthcare professionals, administrators, and policy-makers associated with the OI population.

     

Infection and white matter injury in infants with congenital cardiac disease

More than 60% of newborns with severe congenital cardiac disease develop perioperative brain injuries. Known risk factors include: pre-operative hypoxemia, cardiopulmonary bypass characteristics, and post-operative hypotension. Infection is an established risk factor for white matter injury in premature newborns. In this study, we examined term infants with congenital cardiac disease requiring surgical repair to determine whether infection is associated with white matter injury. Acquired infection was specified by site - bloodstream, pneumonia, or surgical site infection - according to strict definitions. Infection was present in 23 of 127 infants. Pre- and post-operative imaging was evaluated for acquired injury by a paediatric neuroradiologist. Overall, there was no difference in newly acquired post-operative white matter injury in infants with infection (30%), compared to those without (31%). When stratified by anatomy, infants with transposition of the great arteries, and bloodstream infection had an estimated doubling of risk of white matter injury that was not significant, whereas those with single ventricle anatomy had no apparent added risk. When considering only infants without stroke, the estimated association was higher, and became significant after adjusting for duration of inotrope therapy. In this study, nosocomial infection was not associated with white matter injury. Nonetheless, when controlling for risk factors, there was an association between bloodstream infection and white matter injury in selected sub-populations. Infection prevention may have the potential to mitigate long-term neurologic impairment as a consequence of white matter injury, which underscores the importance of attention to infection control for these patients.     

Factors associated with interest in receiving help for mental health problems in combat veterans returning from deployment to Iraq

Mental health problems in service members often go untreated. This study focused on factors related to interest in receiving help in a survey sample of 577 combat veterans who were screened positive for posttraumatic stress disorder, depression, or generalized anxiety disorder 3 months after returning from Iraq. Over three quarters of respondents recognized that they had a current problem, but only 40% were interested in receiving help. Interest in receiving help was associated with recognizing a problem and receiving mental health services in the past year. More negative attitudes toward mental health care were associated with lower interest in receiving help; paradoxically, more negative perceptions of unit stigma were associated with increased interest in receiving help. Further studies are needed to better define the relationship between stigma perceptions, interest in receiving care, and actual care utilization and to determine whether attitudes toward mental health care can be modified through changes in how care is delivered. Attitudes toward mental health care should be considered in treatment interventions.     

Childhood adversity in those with lived experiences of homelessness in Wales: a cross-sectional study

BackgroundHomelessness is a complex societal and public health issue, with multiple causes and solutions. Efforts to reduce homelessness have tended to focus on crisis, with little attention paid to early intervention and primary prevention. Dealing with homelessness involves both supporting people at risk of homelessness and addressing personal and structural causes throughout the lifecourse, including adverse childhood experiences (ACEs). We examined the relationship between ACEs and homelessness in Wales.MethodsWe retrospectively analysed data from a 2017 cross-sectional national survey of adults aged 16–69 years, living in Wales (total respondents n=2497), using a stratified random probability sampling methodology. Outcome measures included number of ACEs (0, 1, 2–3, or ≥4) and lived experience of homelessness. The 11 categories of ACEs included childhood abuse (physical, sexual, and emotional); neglect (physical and emotional); parental separation or divorce; exposure to domestic violence; or living in a household affected by alcohol misuse, drug use, mental illness, or where someone is incarcerated. Bivariate analysis, adjusted for sociodemographic variables (age, deprivation, gender, and ethnicity), was used to assess the associations between homelessness and ACEs.FindingsWhen weighted to reflect the Welsh national population using mid-2015 population estimates for lower super output areas by sex, age group, and deprivation quintile, homelessness affected 141 (7·0%) of 2005 people in their lifetime. From the unweighted data (n=2497), of the 2333 participants without lived experience of homelessness, 1259 (54·0%) reported no ACEs, compared with 22 (13·4%) of the 164 with experience of homelessness. By contrast, the proportion of participants who reported four or more ACEs was lower among those without (n=253 [10·8%]) than in those with experience of homelessness (n=82 [50·0%]). Those with four or more ACEs were 16·0 times more likely to report lived experience of homelessness in their adult lives (95% CI 9·73–26·43, p<0·0001). Each ACE type was significantly associated with later homelessness, with the strongest associations seen for physical neglect (adjusted odds ratio 8·0 [95% CI 4·98–12·87], p<0·0001), physical abuse (7·0 [5·00–9·87], p<0·0001), sexual abuse (7·1 [4·69–10·78], p<0·0001), and emotional neglect (6·9 [4·63–10·19], p<0·0001).InterpretationThis large study using national, representative data indicates that early intervention that prevents ACEs, combined with a trauma-informed approach that builds resilience in at-risk children and adults, is likely to contribute to reducing and preventing homelessness. Possible limitations include the potential recall bias from retrospective, self-reported data.FundingPublic Health Wales Pump Prime Fund.     

A less stressful alternative to oral gavage for pharmacological and toxicological studies in mice

Oral gavage dosing can induce stress and potentially confound experimental measurements, particularly when blood pressure and heart rate are endpoints of interest. Thus, we developed a pill formulation that mice would voluntarily consume and tested the hypothesis that pill dosing would be significantly less stressful than oral gavage. C57Bl/6 male mice were singly housed and on four consecutive days were exposed to an individual walking into the room (week 1, control), a pill being placed into the cage (week 2), and a dose of water via oral gavage (week 3). Blood pressure and heart rate were recorded by radiotelemetry continuously for 5 h after treatment, and feces collected 6-10 h after treatment for analysis of corticosterone metabolites. Both pill and gavage dosing significantly increased mean arterial pressure (MAP) during the first hour, compared to control. However, the increase in MAP was significantly greater after gavage and remained elevated up to 5 h, while MAP returned to normal within 2 h after a pill. Neither pill nor gavage dosing significantly increased heart rate during the first hour, compared to control; however, pill dosing significantly reduced heart rate while gavage significantly increased heart rate 2-5 h post dosing. MAP and heart rate did not differ 24 h after dosing. Lastly, only gavage dosing significantly increased fecal corticosterone metabolites, indicating a systemic stress response via activation of the hypothalamic-pituitary-adrenal axis. These data demonstrated that this pill dosing method of mice is significantly less stressful than oral gavage.     

Accelerated AV Nodal Conduction with Use of Procainamide in Atrial Fibrillation

Background: Atrial fibrillation is a common dysrhythmia seen in the emergency department (ED). Chemical or electrical cardioversion may be performed on patients who have had atrial fibrillation for < 48 h duration and who are at low risk for thromboembolic events. Multiple studies suggest that intravenous procainamide is an appropriate agent in the treatment of acute atrial fibrillation due to its relatively low risk profile and high conversion rate. Objectives: A case is presented that demonstrates an adverse reaction to the use of intravenous procainamide for chemical cardioversion of atrial fibrillation in an otherwise hemodynamically stable patient. Case Report: We report a case of lone paroxysmal atrial fibrillation in a patient with a structurally normal heart who suffered paradoxical accelerated atrioventricular nodal conduction and secondary hypotension in response to procainamide administration. Conclusion: When administering procainamide for chemical cardioversion of atrial fibrillation, a low threshold should be maintained for administration of a complementary rate-controlling agent, and facilities for immediate electrical cardioversion always must be available.     

Weekday vs weekend endoscopy: Is there a true difference in patient outcomes? A meta-analysis

AIM:To evaluate the"weekend effect"on outcomes in patient admitted on the weekend for upper gastrointestinal bleeding(UGIB).METHODS:A comprehensive search was performed(March 2014).Studies comparing weekend and weekday endoscopy in patients with UGIB were included.All studies had at least 2 of 3 primary outcomes which included:mortality,need for surgery,time to endoscopy,endoscopy on admission day,and length of hospital stay.Three authors individually extracted data.Metaanalysis was performed using pooled estimates with odds ratio or mean difference by fixed and random effects models.RESULTS:Eleven studies met the inclusion criteria.Patients admitted with UGIB on the weekend exhibited a statistically significant increase in mortality(OR=1.13;95%CI:1.06-1.20;P0.01),need for surgery(OR=2.46;95%CI:1.51-3.99;P0.01),and time to endoscopy(MD 2.68;95%CI:0.17-5.20;P=0.04)as compared to patients admitted with UGIB on a weekday.Furthermore,patients with UGIB admitted on weekend experienced statistically significant less endoscopy on day of admission(OR=0.72;95%CI:0.62-0.85;P0.01).No difference was noted between the two groups for length of hospital stay(MD-1.29;95%CI:-3.03-0.45;P=0.15).CONCLUSION:A weekend effect seems to be apparent in patients with UGIB with significantly poorer outcomes.     

Bacterial vaginosis is associated with variation in dietary indices

Bacterial vaginosis (BV) is a common condition of unknown etiology and has been linked to adverse reproductive and obstetric health outcomes. Prior dietary research on BV has focused on specific macro- and micronutrients, but not dietary indices. We assessed the relationship between BV and selected dietary indicators among a cohort of 1735 nonpregnant women ages 15-44 y from Birmingham, Alabama. Annual intake was assessed with the Block98 FFQ, and the glycemic index, glycemic load (GL), and Healthy Eating Index were calculated by the Block Dietary Data System. The Naturally Nutrient Rich (NNR) score was also calculated. Vaginal flora was evaluated using Nugent Gram-stain criteria. Crude OR and adjusted OR were determined by multinomial and logistic regression in cross-sectional and prospective analyses, respectively. Participants were predominantly African American (85.5%) aged 25.3 ± 6.8 y (mean ± SD). Per 10-unit increase, GL was positively (adjusted OR = 1.01, 95% CI = 1.00-1.03) and NNR was negatively (adjusted OR = 0.93, 95% CI = 0.88-0.99) associated with BV compared to normal vaginal flora. In prospective analyses, only GL was associated with BV progression (adjusted OR = 1.03, 95% CI = 1.00-1.05) and persistence (adjusted OR = 1.02, 95% CI = 1.01-1.04) after adjustment. Both GL and NNR were associated with greater BV prevalence and GL was associated with an increase in BV persistence and acquisition. These results suggest that diet composition may contribute to vaginal flora imbalances and be important for elucidating the etiology of BV.