A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.

BACKGROUND: Multiple 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 METHODS: Sixty-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. RESULTS: The 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. CONCLUSIONS: This 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.

Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia.

OBJECTIVE: To evaluate the utilization of laboratory testing in the diagnosis of cerebellar ataxia, including the completeness of initial standard testing for acquired causes, the early use of genetic testing, and associated clinical and nonclinical factors, among a cohort referred for subspecialty consultation. METHODS: Data were abstracted from records of 95 consecutive ataxia patients referred to one neurogenetics subspecialist from 2006-2010 and linked to publicly available data on characteristics of referral clinicians. Multivariable logistic and linear regression models were used to analyze unique associations of clinical and nonclinical factors with laboratory investigation of acquired causes and with early genetic testing prior to referral. RESULTS: At referral, 27 of 95 patients lacked evidence of any of 14 laboratory studies suggested for initial work-up of an acquired cause for ataxia (average number of tests=4.5). In contrast, 92% of patients had undergone brain magnetic resonance imaging prior to referral. Overall, 41.1% (n=39) had genetic testing prior to referral; there was no association between family history of ataxia and obtaining genetic testing prior to referral (p=0.39). The level of early genetic testing was 31.6%, primarily due to genetic testing despite an incomplete laboratory evaluation for acquired causes and no family history. A positive family history was consistently associated with less extensive laboratory testing (p=0.004), and referral by a neurologist was associated with higher levels of early genetic testing. CONCLUSIONS: Among consecutive referrals to a single center, a substantial proportion of sporadic cases had genetic testing without evidence of a work-up for acquired causes. Better strategies to guide decision making and subspecialty referrals in rare neurologic disorders are needed, given the cost and consequences of genetic testing.

Sexual risk behaviors and acceptability of HIV pre-exposure prophylaxis among HIV-negative gay and bisexual men in serodiscordant relationships: a mixed methods study.

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.

A qualitative study about self-medication in the community among market vendors in Fuzhou, China.

Despite government efforts to increase healthcare insurance and access in China, many individuals, regardless of insurance status, continue to engage in high levels of self-medication. To understand the factors influencing common self-medication behaviour in a community of food market vendors in Fuzhou China, a total of 30 market vendors were randomly recruited from six food markets in 2007. In-depth interviews were conducted with each participant at their market stalls by trained interviewers using a semi-structured open-ended interview protocol. Participants were asked broad questions about their health-seeking behaviours as well as their past experiences with self-medication and hospital care. ATLAS. ti was used to manage and analyse the interview data. The results showed that hospital-based healthcare services were perceived as better quality. However, self-medication was viewed as more affordable in terms of money and time. Other factors prompting self-medication, included confidence in understanding the health problem, the easy accessibility of local pharmacies and the influences of friends/peers and advertising. Three broad domains, attitude, cost and effectiveness, were all seen to determine past decisions and experiences with self-medication. Interestingly, the effective management of self-medication via pharmacy resources raised particular concern because of perceived variation in quality. In conclusion, self-medication was found to be an important and common health-seeking behaviour driven by multiple factors. A sound and comprehensive public health system should systematically attend to these behaviours and the pharmacies, where much of the behaviour occurs.

Motivators, concerns, and barriers to adoption of preexposure prophylaxis for HIV prevention among gay and bisexual men in HIV-serodiscordant male relationships.

The purpose of this study was to identify factors that may facilitate or impede future adoption of preexposure prophylaxis (PrEP) for HIV prevention among gay and bisexual men in HIV-serodiscordant relationships. This qualitative study utilized semistructured interviews conducted with a multiracial/-ethnic sample of 25 gay and bisexual HIV-serodiscordant male couples (n=50 individuals) recruited from community settings in Los Angeles, CA. 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.

Entertainment Venue Visiting and Commercial Sex in China.

Entertainment venues in China play an important role in the sexually transmitted disease (STD)/HIV epidemic. Most previous studies have focused on sex workers working in entertainment venues, but little is known about their clients. This study investigated the perceptions and behavior of the patrons visiting entertainment venues. Qualitative in-depth interviews were conducted with 30 male market vendors who visited entertainment venues at least once in the past 3 months in an eastern city in China. Information about their risky behavior, attitude toward commercial sex, and STD/HIV prevention approaches was collected. Saunas, karaoke bars, and massage centers are the most frequently visited entertainment venues. Seventy-three percent of study participants reported purchasing commercial sex at these entertainment venues. Participants expressed a very liberal attitude toward commercial sex. Seeking commercial sex was perceived as a characteristic of a male's nature. The perceived risks of STD/HIV infection do not deter participants from engaging in commercial sex. Commercial sex clients reported irregular condom use and a number of other misperceptions and improper practices toward preventing STD/HIV infection. Venue-based intervention is urgently needed to target the population. The sex workers themselves could potentially serve as "health educators" to communicate prevention information to their clients and encourage safer sex behavior.

Sociocultural contexts and communication about sex in China: informing HIV/STD prevention programs.

HIV may be particularly stigmatizing in Asia because of its association with "taboo" topics, including sex, drugs, homosexuality, and death (Aoki, Ngin, Mo, & Ja, 1989). These cultural schemata expose salient boundaries and moral implications for sexual communication (Chin, 1999, Social Science and Medicine, 49, 241-251). Yet HIV/STD prevention efforts are frequently conducted in the public realm. Education strategies often involve conversations with health "experts" about condom use, safe sex, and partner communication. The gap between the public context of intervention efforts and the private and norm-bound nature of sex conversation is particularly challenging. Interviews with 32 market workers in eastern China focused on knowledge, beliefs, and values surrounding sexual practices, meanings, and communication. Sex-talk taboos, information seeking, vulnerability, partner communication, and cultural change emerged as central to understanding intervention information flow and each theme's relative influence is described. Findings illustrate the nature of how sexual communication schemata in Chinese contexts impact the effectiveness of sexual health message communication.

Intergenerational and urban-rural health habits in Chinese families.

OBJECTIVE: To explore intergenerational health habits and compare differences between urban and rural families. METHODS: A total of 2500 families with children ages 6-18 in China were surveyed regarding their health habits. RESULTS: Urban families reported significantly greater food variety and more time exercising (for fathers and children) than did rural families. Children's exercise time was associated with fathers' exercise time, whereas children's drinking and smoking were associated with mothers' drinking and smoking. CONCLUSIONS: These linkages across generations in health habits highlight the need to develop preventive strategies with consideration for intergenerational influences and rural-urban differences.

Why patients go online: multiple sclerosis, the internet, and physician-patient communication.

BACKGROUND: The online information seeking of multiple sclerosis (MS) patients, their reasons for doing so, and its importance for physician-patient communication have not been described. METHODS: Patients (n = 61) presenting for the first time at an MS clinic from December 2003 to July 2005 were interviewed pre- and postappointment and administered standard measures of pain and health quality of life. Consultations were audio recorded. Quantitative data were analyzed in light of qualitative data. RESULTS: Eighty-two percent of patients reported gathering medical information online before their first appointment; 36% discussed this information with their physician. Qualitative reasons for Internet information seeking and for not communicating it show some signs of wariness of health care potentially leading to nonadherence. CONCLUSIONS: Most MS patients are informed by online information, but are unlikely to discuss that research with physicians for reasons that may have implications for patient adherence.

Prepared patients: internet information seeking by new rheumatology patients.

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.

Dealing with epilepsy: parents speak up.

In this study, focus groups were used to examine parents' attitudes toward mental health services, use of mental health and other services, as well as service-related and other challenges encountered by parents of children with epilepsy. Both quantitative and qualitative analytic approaches were used to analyze the transcripts of 36 parents grouped into six focus groups by socioeconomic status (SES) (high, low) and ethnicity (African-American, Caucasian, Hispanic). The quantitative analyses demonstrated that, irrespective of SES and ethnicity, the parents were highly aware of their children's behavioral, emotional, and cognitive difficulties and the lack of knowledge about epilepsy among medical, educational, and mental health professionals. The higher-SES parents were significantly more concerned about inadequate educational services and the need for medical services, but less concerned about mental health and medical service use than the lower-SES parents. Insufficient knowledge about epilepsy and about services, parent emotional difficulties, and use of educational services differed significantly by ethnicity. The qualitative analyses highlighted the parents' concerns regarding misconceptions about epilepsy and the stigma toward mental health care among the African-American and Hispanic parents. These findings suggest the need for accessible and better-quality mental health, educational, and medical services for children with epilepsy irrespective of SES and ethnicity. They also underscore the importance of educating parents, service providers, and the general public about epilepsy.

Impacts of HIV/AIDS Stigma on Family Identity and Interactions in China.

This study examines the impact of HIV-related stigma on families living with HIV/AIDS in China. In-depth, semistructured interviews were conducted with 30 people living with HIV/AIDS and with 15 of their family members, including spouses, parents, and siblings. Findings show that HIV-related stigma is associated with bringing shame to the family, losing family "face," and damaging within-family relations and broader family social networks. HIV/AIDS stigma was reported to have major impacts on family identity and interactions. In order to cope with these pressures, families reported joining self-support programs, educating family members, and helping other families. This study illustrates that HIV-related stigma is an issue faced by entire families in China, points to specific aspects of family life in which these impacts take place, and suggests the importance of including families in HIV/AIDS and stigma reduction interventions.

HIV/STD stigmatization fears as health-seeking barriers in China.

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.

Impact of interpreters' approach on Latinas' use of amniocentesis.

Communication difficulties in multicultural clinical settings can be exacerbated by translators, but their actual impact on medical decisions has not been systematically evaluated. This study sought to determine the influence of translators participating in clinical encounters in which English-speaking clinicians offered amniocentesis to Spanish-speaking women by conducting systematic observations of 61 prenatal genetic consultations and recording translators' training and background characteristics and patients' amniocentesis decisions. Translators' behavioral styles were classified according to 10 inductively determined criteria. Translators' approaches were classified as Distant, Authoritative, or Missionary. Whereas the first category remained emotionally detached, the others sought to build rapport and trust with the patient. Quantitative analysis revealed statistically significant associations between translation styles that sought to engender trust and likelihood the pregnant woman agreed to amniocentesis. The authors conclude that translators' affective approaches can influence whether patients accept or decline amniocentesis.