Usher syndrome: clinical findings and gene localization studies

The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.     

A randomized multicenter study to determine the efficacy of activity restriction for preterm labor management in patients testing negative for fetal fibronectin.

OBJECTIVE: To assess the impact of activity restriction (AR) on the incidence of preterm birth in women treated for preterm labor testing negative for fetal fibronectin (fFN). STUDY DESIGN: Women who were diagnosed with preterm labor and tocolyzed with magnesium sulfate were concurrently screened with fFN for the purpose of subsequent management. Included were consenting patients with negative fFN, gestational age 23 0/7-33 6/7 weeks, cervical dilation < or =3 cm, and minimal vaginal bleeding. Patients were randomized to AR or no AR. Primary study outcome was incidence of preterm delivery and interval from randomization to delivery. RESULTS: A total of 73 women with negative fFN were randomized (36 with AR, 37 without AR). The overall preterm birth rate was 40%, with 44.4% of patients with AR and 35.1% of patients without AR delivering preterm, p=0.478. CONCLUSION: Maternal AR did not impact pregnancy outcome. The incidence of preterm birth in symptomatic women testing fFN negative was higher than previously reported.     

Psychological distress among female spouses of male at-risk drinkers.

The consequences of alcoholism on the mental health of spouses of lifetime at-risk drinkers are only known from studies on alcoholics already in treatment. A retrospective analysis was conducted using data from a Quebec community health survey. The purpose of this study was twofold. First, our goal was to ascertain the mental health of female spouses living with a male lifetime at-risk drinker. Secondly, we wanted to examine the relationship between male lifetime at-risk drinkers (aged 30-54 years) and the psychological distress of their nondrinking female spouses. Lifetime at-risk drinking, for the purposes of this study, was defined as having at least two positive answers to the CAGE questionnaire. Couples wherein both spouses were deemed not at-risk for problem drinking by the CAGE instrument (0 or 1 positive answer) formed the control group. Psychological distress was measured using the Indice de Détresse Psychologique de l'Enquête Santé Québec (Préville, M., Boyer, R., Potvin, L., Perreault, C., & Légaré, G. (1992). La détresse psychologique: détermination de la fiabilité et de la validité de la mesure utilisée dans l'enquête Santé Québec. Cahier de recherches #7, Montréal, Santé Québec.). It measures symptoms of anxiety, depression, aggressivity, and cognitive impairments. Scores of >or=22 (out of 100) were indicative of a high level of psychological distress. This study confirmed higher levels of psychological distress in female spouses of male lifetime at-risk drinkers in the general population. An exploratory study examined the association between the psychological distress of female spouses and each of the following nine independent variables: male partner lifetime at-risk drinker, stressful life events, job situation, socioeconomic status, perceived health status, presence of children less than 15 years, length of the marital relationship, presence of a confidant, and availability of social support. Lifetime at-risk drinking is a risk factor for the spouse's psychological distress. An examination of the demographic characteristics related to alcohol intake in male lifetime at-risk drinkers is also described in this study.     

Pain levels experienced with activities after cardiac surgery.

BACKGROUND: Acute pain is common after cardiac surgery and can keep patients from participating in activities that prevent postoperative complications. Accurate assessment and understanding of pain are vital for providing satisfactory pain control and optimizing recovery. OBJECTIVES: To describe pain levels for 5 activities expected of patients after cardiac surgery on postoperative days 1 to 6 and changes in pain levels after chest tube removal and extubation. METHODS: Adults who underwent cardiac surgery were asked to rate the pain associated with various types of activities on postoperative days 1 to 6. Pain levels were compared by postoperative day, activity, and type of cardiac surgery. Pain scores before and after chest tube removal and extubation also were analyzed. RESULTS: Pain scores were higher on earlier postoperative days. The order of overall pain scores among activities (P < .01) from highest to lowest was coughing, moving or turning in bed, getting up, deep breathing or using the incentive spirometer, and resting. Changes in pain reported with coughing (P = .03) and deep breathing or using the incentive spirometer (P = .005) differed significantly over time between surgery groups. After chest tubes were discontinued, patients had lower pain levels at rest (P = .01), with coughing (P = .05), and when getting up (P = .03). CONCLUSIONS: Pain relief is an important outcome of care. A comprehensive, individualized assessment of pain that incorporates activity levels is necessary to promote satisfactory management of pain.     

Incidence of BK with Tacrolimus Versus Cyclosporine and Impact of Preemptive Immunosuppression Reduction

Our purposes were to determine the incidence of BK viruria, viremia or nephropathy with tacrolimus (FK506) versus cyclosporine (CyA) and whether intensive monitoring and discontinuation of mycophenolate (MMF) or azathioprine (AZA), upon detection of BK viremia, could prevent BK nephropathy. We randomized 200 adult renal transplant recipients to FK506 (n = 134) or CyA (n = 66). Urine and blood were collected weekly for 16 weeks and at months 5, 6, 9 and 12 and analyzed for BK by polymerase chain reaction (PCR). By 1 year, 70 patients (35%) developed viruria and 23 (11.5%) viremia; neither were affected independently by FK506, CyA, MMF or AZA. Viruria was highest with FK506-MMF (46%) and lowest with CyA-MMF (13%), p = 0.005. Viruria >/= 9.5 log(10) copies/mL was associated with a 3-fold increased risk of viremia and a 13-fold increased risk of sustained viremia. After reduction of immunosuppression, viremia resolved in 95%, without increased acute rejection, allograft dysfunction or graft loss. No BK nephropathy was observed. Choice of calcineurin inhibitor or adjuvant immunosuppression, independently, did not affect BK viruria or viremia. Viruria was highest with FK506-MMF and lowest with CyA-MMF. Monitoring and preemptive withdrawal of immunosuppression were associated with resolution of viremia and absence of BK nephropathy without acute rejection or graft loss.     

The influence of in-season injury prevention training on lower-extremity kinematics during landing in female soccer players.

OBJECTIVE: To examine the influence of in-season injury prevention training on hip and knee kinematics during a landing task. DESIGN: Longitudinal pre-post intervention study. SETTING: Testing sessions were conducted in a biomechanics research laboratory. PARTICIPANTS: Eighteen female soccer players between the ages of 14 and 17 participated in this study. All subjects were healthy with no current complaints of lower extremity injury. INTERVENTIONS: Testing sessions were conducted prior to and following a season of soccer practice combined with injury prevention training. MAIN OUTCOME MEASUREMENTS: During each testing session three-dimensional kinematics were collected while each subject performed a drop landing task. Peak hip and knee joint angles were measured during the early deceleration phase of landing and compared between pre- and post-training using paired t-tests. RESULTS: Following a season of soccer practice combined with injury prevention training, females demonstrated significantly less hip internal rotation (7.1 degrees vs. 1.9 degrees; P = 0.01) and significantly greater hip abduction (-4.9 degrees vs. -7.7 degrees; P = 0.02). No differences in knee valgus or knee flexion angles were found post-season. CONCLUSIONS: Female soccer players exhibited significant changes in hip kinematics during a landing task following in-season injury prevention training. Our results support the premise that a season of soccer practice combined with injury prevention training is effective in altering lower extremity motions that may play a role in predisposing females to ACL injury.     

Comparison of 180° and 360° acquisition for myocardial perfusion SPECT with compensation for attenuation, detector response, and scatter: Monte Carlo and mathematical observer results

BACKGROUND: The optimal projection data acquisition strategy for myocardial perfusion (MP) single photon emission computed tomography (SPECT) remains controversial. METHODS: We compared MP SPECT using 180 degrees and 360 degrees projection data obtained with the same acquisition time, reconstructed either with filtered back projection (FBP) or the iterative ordered-subsets expectation maximization (OS-EM) algorithm with various combinations of attenuation, detector response, and scatter compensation using mathematical observers and a myocardial defect detection task. We used Monte Carlo-simulated projection data from a population of 3-dimensional nurbs-based cardiac-torso (NCAT) phantoms with ranges of variability in patient anatomy, organ uptake, defect location, defect size, and noise level based on clinical data. Projection data from 180 degrees and 360 degrees acquisitions were generated by assuming the same acquisition time. After iterative or FBP reconstruction, standard postprocessing methods were applied. For each acquisition and reconstruction method, we optimized the number of iterations and cut-off frequency of the Butterworth filter using the Channelized Hotelling Observer methodology. The optimum set of parameters was that which gave the maximum area under the curve. RESULTS: For both acquisition protocols, OS-EM with compensations provided better performance than FBP or OS-EM without compensation. For FBP, the optimized 180 degrees acquisition provided a statistically significant increase in AUC as compared with optimized 360 degrees acquisition. For OS-EM, the AUCs for 180 degrees were slightly larger than for 360 degrees acquisitions when comparing images reconstructed with the same compensations. However, the differences were smaller and not statistically significant. CONCLUSION: With optimized reconstruction and filtering parameters, 180 degrees acquisition provided a statistically significant improvement over 360 degrees acquisition for FBP reconstruction. However, for OS-EM the differences were small and not statistically significant.     

Reframing climate change as a public health issue: an exploratory study of public reactions

Background  

Climate change is taking a toll on human health, and some leaders in the public health community have urged their colleagues to give voice to its health implications. Previous research has shown that Americans are only dimly aware of the health implications of climate change, yet the literature on issue framing suggests that providing a novel frame - such as human health - may be potentially useful in enhancing public engagement. We conducted an exploratory study in the United States of people's reactions to a public health-framed short essay on climate change.