BackgroundMultiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse the correlation between (epi)genotype and phenotype.Subjects and methodsSixty-nine patients were examined by two physicians. Clinical scores were generated for all patients, with a new, six-item scoring system: (1) small for gestational age, birth length and/or weight ≤−2SDS, (2) postnatal growth retardation (height ≤−2SDS), (3) relative macrocephaly at birth, (4) body asymmetry, (5) feeding difficulties and/or body mass index (BMI) ≤−2SDS in toddlers; (6) protruding forehead at the age of 1–3 years. Subjects were considered to have likely SRS if they met at least four of these six criteria. Molecular investigations were performed blind to the clinical data.ResultsThe 69 patients were classified into two groups (Likely-SRS (n=60), Unlikely-SRS (n=9)). Forty-six Likely-SRS patients (76.7%) displayed either 11p15 ICR1 hypomethylation (n=35; 58.3%) or maternal UPD of chromosome 7 (mUPD7) (n=11; 18.3%). Eight Unlikely-SRS patients had neither ICR1 hypomethylation nor mUPD7, whereas one patient had mUPD7. The clinical score and molecular results yielded four groups that differed significantly overall and for individual scoring system factors. Further molecular screening led identifying chromosomal abnormalities in Likely-SRS-double-negative and Unlikely-SRS groups. Four Likely-SRS-double negative patients carried a DLK1/GTL2 IG-DMR hypomethylation, a mUPD16; a mUPD20 and a de novo 1q21 microdeletion.ConclusionsThis new scoring system is very sensitive (98%) for the detection of patients with SRS with demonstrated molecular abnormalities. Given its clinical and molecular heterogeneity, SRS could be considered as a spectrum.

The objective of this mixed methods study was to examine current sexual risk behaviors, acceptability and potential adoption of pre-exposure prophylaxis (PrEP) for HIV prevention, and sexual behavior intentions with PrEP adoption among HIV-negative gay and bisexual men (GBM) in HIV serodiscordant relationships. A multiracial/ethnic sample of 25 HIV-negative GBM in serodiscordant relationships completed a qualitative interview and a brief interviewer-administered survey. A modified grounded theory approach was used to identify key themes relating to acceptability and future adoption of PrEP. Participants reported engaging in sexual risk behaviors that place them at risk for HIV infection. Participants also reported a high level of acceptability for PrEP and willingness to adopt PrEP for HIV prevention. Qualitative themes explaining future PrEP adoption included: (1) the opportunity to engage in sex using a noncondom HIV prevention method, (2) protection from HIV infection, and (3) less anxiety when engaging in sex with an HIV-positive partner. Associated with the future adoption of PrEP, a majority (64%) of participants indicated the likelihood for an increase in sexual risk behaviors and a majority (60%) of participants also indicated the likelihood for a decrease or abandonment of condom use, both of which are in contrast to the findings from the large iPrEx study. These findings suggest that the use of PrEP by HIV-negative GBM in serodiscordant relationships carries with it the potential for risk compensation. The findings suggest that PrEP only be offered as part of a comprehensive HIV prevention strategy that includes ongoing risk reduction counseling in the delivery of PrEP to help moderate risk compensation.

The purpose of this study was to identify factors that may facilitate or impede future adoption of pre-exposure prophylaxis (PrEP) for HIV prevention among gay and bisexual men in HIV-serodiscordant relationships. This qualitative study utilized semi-structured interviews conducted with a multi-racial/ethnic sample of 25 gay and bisexual HIV serodiscordant male couples (n=50 individuals) recruited from community settings in Los Angeles, California. A modified grounded theory approach was employed to identify major themes relating to future adoption of PrEP for HIV prevention. Motivators for adoption included protection against HIV infection, less concern and fear regarding HIV transmission, the opportunity to engage in unprotected sex, and endorsements of PrEP’s effectiveness. Concerns and barriers to adoption included the cost of PrEP, short- and long-term side effects, adverse effects of intermittent use or discontinuing PrEP, and accessibility of PrEP. The findings suggest the need for a carefully planned implementation program along with educational and counseling interventions in the dissemination of an effective PrEP agent.

Objective.To investigate to what extent and why new rheumatology patients access medical information online prior to first appointments and secondarily to ask whether they discuss information gained from the Internet with physicians. Methods. Research was conducted in a teaching rheumatology clinic with a nonrandom sample of 120 English-speaking adults presenting for first appointments in rheumatology. Quantitative and qualitative data were gained in pre-and postappointment patient surveys and interviews, including online information gathering prior to first appointment, demographics, health status, information usage in patient-physician interactions, and satisfaction. Data were analyzed for significant relationships across variables and for qualitative insights into quantitative outcome measures. Results. Of all patients, 87.5% looked up their symptoms or suspected condition prior to their first appointment and 62.5% of all patients sought that information on the Internet. Only 20% of online information seekers discussed that information with their physicians. Age and sex were significant predictors of Internet information seeking. Physician and patient appointment satisfaction was significantly higher when Internet information was discussed; however, most patients did not discuss their information seeking because they primarily feared being perceived as challenging their physician. Conclusion. The majority of patients research their conditions online prior to initial appointments, but are unlikely to discuss that research with physicians even though discussion is related to higher satisfaction. Physicians may want to consider strategies for enabling communication about online research.

Internationally, stigma prohibits effective HIV/STD identification, prevention, and care. Interviews with 106 persons in an urban center in Eastern China, some known to have engaged in stigmatized risk acts (sex workers, STD clinic patients) and some vulnerable for stigmatization fears to influence health-seeking behaviors (market employees, rural-to-urban migrants). Interviews focused on community norms, values, beliefs, and emotional and behavioral reactions to HIV/STD stigmatization related events. Attributions for infection were found to mark individual's failure to adhere to sexuality norms; define a condition warranting the avoidance of infected persons and dismissal by medical professionals; and promote anticipation of negative emotions (i.e., shame, fear, and embarrassment) and devalued social roles and status. Strategies reported to avoid stigmatization include avoiding HIV/STD knowledge; avoiding health care professionals, particularly in public settings; and conforming to community norms of shunning those suspected of risky behaviors. Results have direct implications for community marketing campaigns in China.