Psychological functioning in paediatric patients with single ventricle heart disease: a systematic review.

BACKGROUND: Patients with single ventricle heart disease are living into adulthood due to medical and surgical advancements but have significant physical comorbidities and an increased risk for psychological comorbidities compared to healthy subjects or those with other CHD diagnoses. This study aimed to systematically review psychological functioning in paediatric single ventricle heart disease. METHODS: Literature was searched using PubMed, Embase, PsycInfo, CINAHL Complete and Scopus. Peer-reviewed articles that included patients ages 0-25 years with single ventricle heart disease, and quantitative measures of psychological outcomes were included. Meta-analysis using a fixed-effect model was conducted for internalising and externalising t-scores, utilised by the Achenbach Child Behavior Checklist. RESULTS: Twenty-nine records met the criteria for inclusion. 13/24 studies demonstrated increased risk for internalising disorders, such as anxiety/depression; 16/22 studies demonstrated risk for externalising disorders, such as attention or behavioural problems. Meta-analysis of four studies revealed that paediatric single ventricle heart disease patients had no significant difference in internalising and externalising t-scores compared to normative values. CONCLUSIONS: The current review demonstrates the need for further studies to better understand psychological functioning in patients with single ventricle heart disease, with a majority of studies showing increased risk for psychological problems despite no difference seen in a small meta-analysis. This summary of the literature underscores the need for regular psychological screening, earlier intervention and integrated mental health therapies in paediatric single ventricle heart disease.

Vascular dissection in women with Turner syndrome.

BACKGROUND: The frequency of ascending aortic dissection in patients with Turner syndrome in the United States remains largely unknown with data surmised from published case reports or case series. Dissection of other vascular structures has only rarely been reported in this patient cohort. Recent European data identified aortic dissection to be a relatively rare event in a group of adult women with Turner syndrome. We sought to evaluate the prevalence of, and risk factors for, vascular dissection in women with Turner syndrome followed in the United States. METHOD: Retrospective review of all adult patients (age > 18 years) with Turner syndrome seen by any medical care provider within 2 medical systems covering a 5 state referral base was performed. Demographic, clinical, surgical and imaging variables of interest were recorded. RESULTS: Vascular dissection occurred in 16 (4.1%) of the 393 adult women and prophylactic aortic replacement occurred in 14 (3.5%). Only 35% of patients were under the care of a cardiologist with the remainder followed exclusively by other care providers. Vascular dissections occurred in the ascending & descending aorta as well as pulmonary artery and cerebral vessels. In addition to bicuspid aortic valve, and prior cardiac surgery, risk factors for vascular dissection included rural residence and lack of ongoing care by a cardiologist. CONCLUSION: Transition to adult cardiology subspecialty care is lacking in patients with Turner syndrome. Aortic dissection is not uncommon. Ongoing interaction with a cardiologist is essential to optimize cardiac outcomes in those with cardiac risk factors and may best be accomplished with centralized multidisciplinary clinics.

Clinical and Echocardiographic Prevalence and Detection of Congenital and Acquired Cardiac Abnormalities in Girls and Women with the Turner Syndrome.

The prevalence of congenital and acquired heart disease in patients with the Turner syndrome (TS) is based on historic cohorts who underwent imaging before the advent of modern day echocardiography. Recent small studies suggest a higher prevalence of cardiac defects. We reviewed clinical and echocardiographic data on 564 girls and women with TS to assess the prevalence of cardiac defects. Echocardiographic review on a subset of this population was performed to assess for diagnostic limitations of echocardiography in assessing for congenital and acquired defects in this patient cohort. Bicuspid aortic valve was present in 39%, aortic coarctation in 21%, and some forms of structural cardiac anomaly in 56%. Failure to perform a complete congenital echocardiogram with suprasternal and high right or left parasternal windows was associated with failure to identify congenital and acquired cardiac defects. In conclusion, major cardiac defects are present in the majority of patients with TS. Echocardiographic technique can be optimized to avoid missing cardiac lesions of potential hemodynamic significance.

Skin cancer screening in the homeless population.

The homeless population is a medically vulnerable patient population in our communities. Of particular concern to dermatologists is the risk for the development of skin cancer in the homeless, in light of their chronic sun exposure and suboptimal sun protection behaviors. Two free skin cancer screenings conducted at the Fourth Street Clinic in Salt Lake City, Utah, in 2011 and 2012, resulted in the diagnosis of 13 skin cancers in 62 patients. These events also highlighted that many homeless patients had suboptimal skin cancer prevention behaviors. We believe that education, awareness, and disease prevention can be relatively easily accomplished by local homeless clinics as a first line of defense against skin cancer in the homeless population.

Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.

Familial melanoma is associated with point mutations in the cyclin-dependent kinase (CDK) inhibitor p16(INK4A) (p16). We recently reported that p16 regulates intracellular oxidative stress in a cell cycle-independent manner. Here we constructed 12 different familial melanoma-associated point mutants spanning the p16 coding region and analyzed their capacity to regulate cell cycle phase and suppress reactive oxygen species (ROS). Compared with wild-type p16, which fully restored both functions in p16-deficient fibroblasts, various p16 mutants differed in their capacity to normalize ROS and cell cycle profiles. Although some mutations did not impair either function, others impaired both. Interestingly, several mutations impaired cell cycle (R24Q, R99P, and V126D) or oxidative functions (A36P, A57V, and P114S) selectively, indicating that these two functions of p16 can be uncoupled. Similar activities were confirmed with selected mutants in human melanoma cells. Many mutations impairing both cell cycle and oxidative functions, or only cell cycle function, localize to the third ankyrin repeat of the p16 molecule. Alternatively, most mutations impairing oxidative but not cell cycle function, or those not impairing either function, lie outside this region. These results demonstrate that particular familial melanoma-associated mutations in p16 can selectively compromise these two independent tumor-suppressor functions, which may be mediated by distinct regions of the protein.