Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.

BACKGROUND: The 22q11.2 deletion syndrome is the most common microdeletion syndrome and is frequently associated with congenital heart disease. Prenatal diagnosis of 22q11.2 deletion syndrome is increasingly offered. It is unknown whether there is a clinical benefit to prenatal detection as compared with postnatal diagnosis. OBJECTIVE: This study aimed to determine differences in perinatal and infant outcomes between patients with prenatal and postnatal diagnosis of 22q11.2 deletion syndrome. STUDY DESIGN: This was a retrospective cohort study across multiple international centers (30 sites, 4 continents) from 2006 to 2019. Participants were fetuses, neonates, or infants with a genetic diagnosis of 22q11.2 deletion syndrome by 1 year of age with or without congenital heart disease; those with prenatal diagnosis or suspicion (suggestive ultrasound findings and/or high-risk cell-free fetal DNA screen for 22q11.2 deletion syndrome with postnatal confirmation) were compared with those with postnatal diagnosis. Perinatal management, cardiac and noncardiac morbidity, and mortality by 1 year were assessed. Outcomes were adjusted for presence of critical congenital heart disease, gestational age at birth, and site. RESULTS: A total of 625 fetuses, neonates, or infants with 22q11.2 deletion syndrome (53.4% male) were included: 259 fetuses were prenatally diagnosed (156 [60.2%] were live-born) and 122 neonates were prenatally suspected with postnatal confirmation, whereas 244 infants were postnatally diagnosed. In the live-born cohort (n=522), 1-year mortality was 5.9%, which did not differ between groups but differed by the presence of critical congenital heart disease (hazard ratio, 4.18; 95% confidence interval, 1.56-11.18; P<.001) and gestational age at birth (hazard ratio, 0.78 per week; 95% confidence interval, 0.69-0.89; P<.001). Adjusting for critical congenital heart disease and gestational age at birth, the prenatal cohort was less likely to deliver at a local community hospital (5.1% vs 38.2%; odds ratio, 0.11; 95% confidence interval, 0.06-0.23; P<.001), experience neonatal cardiac decompensation (1.3% vs 5.0%; odds ratio, 0.11; 95% confidence interval, 0.03-0.49; P=.004), or have failure to thrive by 1 year (43.4% vs 50.3%; odds ratio, 0.58; 95% confidence interval, 0.36-0.91; P=.019). CONCLUSION: Prenatal detection of 22q11.2 deletion syndrome was associated with improved delivery management and less cardiac and noncardiac morbidity, but not mortality, compared with postnatal detection.

Right ventricle in hypoplastic left heart syndrome exhibits altered hemodynamics in the human fetus.

Hypoplastic left heart syndrome (HLHS) represents approximately 9% of all congenital heart defects and is one of the most complex, with the left side of the heart being generally underdeveloped. Numerous studies demonstrate that intracardiac fluid flow patterns in the embryonic and fetal circulation can impact cardiac structural formation and remodeling. This highlights the importance of quantifying the altered hemodynamic environment in congenital heart defects, like HLHS, relative to a normal heart as it relates to cardiac development. Therefore, to study human cardiovascular fetal flow, computational fluid dynamic simulations were performed using 4D patient-specific ultrasound scans in normal and HLHS hearts. In these simulations, we find that the HLHS right ventricle exhibits a greater cardiac output than normal; yet, hemodynamics are relatively similar between normal and HLHS right ventricles. Overall, this study provides detailed quantitative flow patterns for HLHS, which has the potential to guide future prevention and therapeutic interventions, while more immediately providing additional functional detail to cardiologists to aid in decision making.

Consequences of delivery at home in a woman without prenatal care.

This is a case report of a 39-year-old multigravida woman without allopathic prenatal care who, after three previous caesarean sections, attempted to deliver her fourth child at home with the help of a direct entry midwife. During labour, fetal movement and fetal heart tones became undetectable, at which time the patient was referred by the midwife to the hospital. The patient was diagnosed with uterine rupture, bladder rupture and fetal demise; she was rushed to emergency surgery. The patient's lack of allopathic prenatal care, attempt of vaginal birth after three previous caesarean sections, coupled with her desire for delivery at home, led to her complicated course. The patient related that she was never made aware that attempting a home birth after three prior caesarean sections put her at increased risk for complications, and she was also unaware that midwives could have varying levels of training.

Addition of buprenorphine to local anesthetic in adductor canal blocks after total knee arthroplasty improves postoperative pain relief: a randomized controlled trial.

BACKGROUND AND OBJECTIVES: For the hundreds of thousands of patients who undergo total knee arthroplasty (TKA) in the United States each year, early mobilization has been demonstrated to improve functional outcomes and reduce complications. Management of postoperative pain is a critical factor in achieving early mobilization. Recent studies have shown that the use of an adductor canal block (ACB) after TKA results in increased preservation of quadriceps muscle strength, without significant difference in postoperative pain when compared to femoral nerve block. This increased preservation of quadriceps muscle strength leads to earlier mobilization. Studies have also demonstrated a prolongation of analgesia with the addition of buprenorphine to local anesthetic for regional block placement. This study examined the effect on postoperative opioid consumption when adding buprenorphine to an ACB vs an ACB with local anesthetic alone, for postoperative analgesia after unilateral TKA. METHODS: A total of 100 patients scheduled for TKA were randomized to receive postoperative ACB with local anesthetic alone or with local anesthetic and buprenorphine. The primary outcome examined was total opioid analgesic (milligrams of hydrocodone equivalent) consumption in the first 24 hours postsurgery. The secondary outcomes examined were the reported incidence of the opioid side effects nausea, vomiting, and pruritis. RESULTS: Postoperative opioid consumption decreased significantly in the group that received an ACB with local anesthetic and buprenorphine compared to an ACB with local anesthetic only (25.34±2.62 vs 35.84±2.86; P=.0076). Secondary outcomes showed no statistical difference between the 2 groups in terms of the incidence of nausea, vomiting, or pruritus. CONCLUSION: The addition of buprenorphine to an adductor canal block decreases postoperative opioid consumption when compared to an ACB with local anesthetic alone. This reduction in opioid consumption, without significant increase in side effects, makes this an attractive anesthetic adjunct for TKA.

Genital herpes testing among persons living with HIV.

This cross-sectional survey explored the frequency of genital herpes testing among 110 people living with HIV (PLWH) and reported barriers and facilitators related to testing. Forty-four percent of the respondents had not been tested for genital herpes since receiving an HIV diagnosis, 34% had been tested, and 22% preferred not to say. Respondents' most frequently cited factors affecting a decision to not be tested were: (a) testing not being recommended by a provider, (b) not having herpes symptoms, and (c) not thinking they had herpes. Data from this study indicated that PLWH were not frequently tested for genital herpes; there was a limited understanding of the frequently subclinical nature of infection; and provider recommendations for testing, or lack thereof, affected testing decisions.

Availability of serologic and virologic testing for herpes simplex virus in the largest sexually transmitted disease clinics in the United States.

BACKGROUND: The prevalence of herpes simplex virus type 1 (HSV-1) and type 2 (HSV-2) in the United States is estimated to be 57.7% for HSV 1 and 17.0% for HSV 2. The Centers for Disease Control and Prevention recommends that both virologic and serologic tests be available at clinics that examined clients at risk for sexually transmitted diseases. METHODS: A telephone survey was conducted. Providers at the 230 largest sexually transmitted disease clinics in the United States were surveyed regarding the availability of HSV virologic and serologic testing at their clinics. RESULTS: Of the 230 clinics, 37% (87) had neither serological nor virologic testing available, 36% (87) had only virologic, 23% (50) had both serologic and virologic, and 4% (8) had only serologic testing. States in the western and northern regions were significantly more likely to offer any type of HSV testing than the southern and Midwestern states (P < 0.05). The ability and techniques used to diagnose HSV varied widely by site and ranged from diagnosing by clinical examinations only to offer serological testing for all patients. CONCLUSIONS: Almost three-quarters of the clinics did not comply with Centers for Disease Control and Prevention recommendations. Further efforts are needed to implement national guidelines for HSV testing.

Characteristics associated with genital herpes testing among young adults: assessing factors from two national data sets.

UNLABELLED: OBJECTIVES AND PARTICIPANTS: in the United States, genital herpes (GH) prevalence is 10.6% among 20- to 29-year-olds and about 90% of seropositive persons do not know their status. This study investigated individual characteristics associated with GH screening and diagnosis in sexually active young adults aged 18 to 24. METHODS: two data sets were analyzed: the National Longitudinal Study of Adolescent Health (Add Health) Wave III from 2001 to 2002 (n = 11,570) and the American College Health Association's (ACHA's) national survey of college students from 2000 to 2006 (n = 222,470). RESULTS: in Add Health, 18.4% of females and 7.1% of males self-reported GH testing in the previous 12 months, compared to 0.7% for self-reported GH diagnosis in ACHA. GH testing and diagnosis was strongly positively associated with a history of human immunodeficiency virus (HIV) testing and diagnosis of sexually transmitted infections (STIs) in the previous 12 months for both sexes. CONCLUSIONS: integrating herpes screening and testing into HIV and standard STI screening would identify more infections.

Show me the money: state contributions toward STD prevention, 2007.

The importance of state investment in sexually transmitted disease (STD) prevention has been discussed since the mid-1990s; however, little has become known about state public health funding for STD prevention. To establish a baseline understanding of state STD prevention funding, financial data for fiscal year 2007 were gathered by survey of state STD, immunization, laboratory, and hepatitis program directors. Results revealed that on average states funded 25.8 percent of their total STD prevention budgets and invested $0.23 per capita in STD prevention. The percentage of state funding in the total state STD prevention budget ranged from 0 percent to 70.2 percent, and state investment in STD prevention ranged from $0.00 to $1.55 per capita. The direction and expenditure of state STD prevention resources was also examined. This study strengthens the national understanding of what states are doing to fund STD prevention, and it broadens state public health awareness of the overall STD prevention investment at the state level. The inclusion of Medicaid data and expenditure of federal resources by states would strengthen the study and assist longitudinal analyses focused on the impact of investment on epidemiologic indicators.

Providers' knowledge, practices, and barriers related to genital herpes testing for patients with HIV.

This cross-sectional study explored the knowledge, practice, and reported barriers related to genital herpes testing among 102 health care providers who treat people living with HIV in the United States. Twelve percent reported always testing HIV-infected patients for genital herpes, 65% sometimes or usually tested, and 23% rarely or never tested for genital herpes. Seventy-five percent said testing was not standard of care. Providers were more likely to recommend a herpes test if the patient had symptoms (94%) or had a partner with herpes (83%) and were less likely to recommend testing if patients had no partners (60%) or would rather not know (49%). Our work adds to the growing body of literature on herpes simplex virus-HIV coinfection by documenting that (a) providers often do not screen for genital herpes, (b) knowledge of appropriate diagnostic evaluation is limited, and (c) many clinicians report the lack of clear guidelines is a barrier to testing.

Recommendations for Performing Internet-Based Research on Sensitive Subject Matter with "Hidden" or Difficult-to-Reach Populations.

Since the mid-1990s, the rapidly increasing popularity of the Internet has contributed to a situation in which many men turn to Web sites to find sex partners with whom they can engage in risky behaviors. Scholars only recently began to examine the role of the Internet in harm-seeking and help-seeking behaviors. They are just now beginning to study and understand how to apply public health promotion principles to people using the Internet. Due in part to the relative newness of the Internet on the public health landscape, scholars wishing to conduct research or to implement health promotion programs online should consider a variety of challenges to doing such work-challenges that differ from those typically faced when undertaking similar work in other types of venues offline. The purpose of this article is to address several of these research considerations. In particular, the present authors wish to provide researchers and health care specialists with key considerations when developing their own Internet-based research or health promotion programs. We also wish to furbish readers with some experience-based suggestions about how to avoid the potential pitfalls of conducting Internet-based studies. Moreover, our emphasis is on how to develop such programs when they are targeting hard-to-reach or "hidden" populations and/or when they deal with sensitive subject matter. Recommendations pertaining to the planning, recruitment, implementation, and evaluation stages of doing professional work online are provided.

Psychosocial well-being and quality of life among women newly diagnosed with genital herpes.

OBJECTIVE: To assess the psychosocial well-being and quality of life among women with a new genital herpes simplex virus diagnosis. DESIGN: Data were collected by a cross-sectional survey. PARTICIPANTS: Eighty-three women diagnosed with genital herpes simplex virus by culture, visual exam and/or a description of symptoms within the last 3 months were recruited from primary health care clinics by their provider. MEASURES: Participants completed the Hospital Anxiety and Depression Scale and the Recurrent Genital Herpes Quality of Life scale. RESULTS: Thirty-four percent of the women qualified as "clinical cases" for depression, and 64% were designated as "anxiety cases" based on Hospital Anxiety and Depression Scale scoring methods. A majority of participants reported feeling ashamed about having herpes and worried about having an outbreak or giving herpes to someone else. CONCLUSIONS: Despite substantial progress toward understanding genital herpes simplex virus epidemiology and transmission, a diagnosis of genital herpes continues to cause considerable psychosocial morbidity and to impact quality of life. There is a dearth of good evidence on how best to intervene to minimize the psychological impact of a diagnosis. Experts recommend addressing both the medical and psychological aspects of infection by providing antiviral therapy, written material, and resources.

Genital herpes education and counselling: testing a one-page 'FAQ' intervention.

Approximately 17% of adults in the USA have antibodies to herpes simplex virus type 2 (HSV-2), 85-90% of whom are unaware of their infection. Diagnosed patients are more likely to detect HSV reactivation, disclose infection status to partner(s) and employ risk-reduction strategies; therefore, diagnosing more cases may reduce herpes transmission rates. Providers are reluctant to identify genital herpes because of potentially lengthy counselling visits or discomfort in dealing with patients' emotional reactions. This study tested the efficacy of a one-page frequently-asked-questions (FAQ) sheet regarding length of initial diagnostic visit, patient satisfaction with topics covered, provider's coverage of topics and resources/referrals provided to patients. Data from 147 patients and 26 providers were analysed. When pre- and post-FAQ sheet data were compared, diagnostic visit time was not substantially reduced but there were favourable trends in patient satisfaction levels on some topics, and providers covered more topics and offered more resources. This FAQ was useful in simplifying topics, providing prompts for providers and resources for patients. While this FAQ sheet appears favourable in this exploratory study, more investigation is needed to measure the degree to which patients use and understand the FAQ sheet, and find it to be a helpful tool.

Common questions about herpes: analysis of chat-room transcripts.

Patients diagnosed with genital herpes typically undergo a period of psychological adjustment. Although healthcare providers can play a key role in this adjustment, in several patient surveys patients have expressed dissatisfaction with the information and counselling offered by professionals. To address this gap, providers must first identify the common questions and myths that are not addressed, or are addressed inadequately. This article is that first step. Through a content analysis of herpes chat-room transcripts captured on their website from autumn 2001 to spring 2006, researchers from the American Social Health Association identified common herpes questions and myths. The 1968 chat passages were coded into 12 themes and 50 sub-themes. Frequently, visitors' questions concerned transmission, symptoms and diagnosis followed by natural history, psychosocial issues and treatment options. The results of this analysis will aid in the creation of tailored messages to address common factual questions and provide psychosocial support.

Drilling to gabbro in intact ocean crust.

Sampling an intact sequence of oceanic crust through lavas, dikes, and gabbros is necessary to advance the understanding of the formation and evolution of crust formed at mid-ocean ridges, but it has been an elusive goal of scientific ocean drilling for decades. Recent drilling in the eastern Pacific Ocean in Hole 1256D reached gabbro within seismic layer 2, 1157 meters into crust formed at a superfast spreading rate. The gabbros are the crystallized melt lenses that formed beneath a mid-ocean ridge. The depth at which gabbro was reached confirms predictions extrapolated from seismic experiments at modern mid-ocean ridges: Melt lenses occur at shallower depths at faster spreading rates. The gabbros intrude metamorphosed sheeted dikes and have compositions similar to the overlying lavas, precluding formation of the cumulate lower oceanic crust from melt lenses so far penetrated by Hole 1256D.

Viral hepatitis prevention education: what do people and providers need to know?

Although hepatitis has been on the decline overall, tens of thousands of new infections are still projected for the coming years. Few studies have investigated the basic (core) educational concepts that are essential to understanding viral hepatitis. This study surveyed three categories of people: (hepatitis 'experts', healthcare providers, and patients) to gather ideas for core concepts for two populations (healthcare providers and patients). The first round of data collection generated ideas for concepts and the second round provided rank orderings. Statistical analyses standardized the suggestions, and provided a numerical system of inclusion and exclusion of concepts. From this process, four lists of core concepts were compiled: hepatitis A, B, and C (individually) for healthcare providers, and hepatitis A, B, and C (combined) for patients. These concepts are useful for educators, nurses and trainers in designing hepatitis prevention materials, counseling patients about hepatitis prevention, and teaching healthcare providers about hepatitis prevention.

Evaluating a teen STD prevention Web site.

PURPOSE: Teens are at higher risk than other age groups for acquiring sexually transmitted diseases (STDs) because of biological and behavioral risk factors, but they have few STD prevention resources. Little is known about how teens use the Internet to seek this information. A pilot study was conducted to measure audience and information-seeking characteristics of the www.iwannaknow.org Web site. METHODS: In addition to a formative content analysis and a usability study, an online survey was designed, pilot tested, revised, and launched for three months. This paper briefly describes the first two formative study components, and then focuses on the online survey. RESULTS: The content analyses and the usability tests were useful for revising the site content and aesthetics and preparing the online survey. Fewer than half of all participants (N=3,489) were between 13 and 17 (n=1,242), the intended site demographic. Most accessed the Internet from home. The most frequent topic of interest was sexual expression, followed by teen sexuality, virginity, relationships, contraception, and then STD information and these varied by age and gender. CONCLUSIONS: Methods and findings will assist researchers, Web site developers, and health educators to refine these evaluation methods, develop effective Web sites, and tailor STD prevention messages by age group and gender. The Internet is a cost-effective method for educating teens and those who care for or work with teens about STD risks and prevention, however, more research is needed to assess the behavioral effects of online interventions.

Integrating hepatitis B prevention into sexually transmitted disease services: U.S. sexually transmitted disease program and clinic trends--1997 and 2001.

OBJECTIVE: The objective of this study was to measure the progress since 1997 of implementing sexually transmitted disease (STD) clinic-based recommendations for hepatitis B prevention. GOAL: The goal of this study was to assess improvements since 1997 in hepatitis B prevention integration in STD services. STUDY: Repeating a 1997 survey, in 2001, a survey was sent to state, municipal, and territorial STD program managers, previously surveyed clinic managers, and a national sample of 500 STD clinics. RESULTS: Large increases were found in the percentage of clinics offering hepatitis B vaccine (from 61% to 82%), providing education (49% to 84%), and accessing federal vaccine programs (48% to 84%). Twice as many program managers considered all patients with STDs eligible for hepatitis B vaccination. Lack of resources and patient noncompliance with vaccine series completion were program barriers. CONCLUSIONS: Hepatitis B policies and vaccination and education efforts in STD clinics have improved; however, many barriers reported in 1997 remained in 2001.

Patient and partner perceptions about preventing genital herpes transmission.

Research over the past decade has provided a new understanding of genital herpes transmission and measures that can reduce transmission risk. It is unclear, however, how those affected by genital herpes access and interpret this information to make decisions about risk behaviours. This study measured how people with genital herpes and their partners perceived prevention methods, barriers and facilitating factors, and information sources. Formative evaluation was conducted, and survey data were collected from visitors to four websites (n=1849). Results suggest that the prevention messages of refraining from sex during disease outbreaks and condom use have had the greatest reach. Misconceptions about the potential role of suppressive antiviral therapy for genital herpes prevention persist among a substantial percentage of respondents. Accurate information concerning transmission between outbreaks, the effectiveness of condoms and the role of antiviral medication is critical in preventing the spread of genital herpes.