The Turner syndrome research registry: Creating equipoise between investigators and participants

To address knowledge gaps about Turner syndrome (TS) associated disease mechanisms, the Turner Syndrome Society of the United States created the Turner Syndrome Research Registry (TSRR), a patient‐powered registry for girls and women with TS. More than 600 participants, parents or guardians completed a 33‐item foundational survey that included questions about demographics, medical conditions, psychological conditions, sexuality, hormonal therapy, patient and provider knowledge about TS, and patient satisfaction. The TSRR platform is engineered to allow individuals living with rare conditions and investigators to work side‐by‐side. The purpose of this article is to introduce the concept, architecture, and currently available content of the TSRR, in anticipation of inviting proposals to utilize registry resources.     

In vitro fermentation of swine ileal digesta containing oat bran dietary fiber by rat cecal inocula adapted to the test fiber increases propionate production but fermentation of wheat bran ileal digesta does not produce more butyrate

This experiment evaluated three hypotheses: i) production of propionate is increased during fermentation of substrate containing oat bran (OB)(6); ii) production of butyrate is increased during fermentation of substrate containing wheat bran (WB) and iii) results of in vitro fermentations using physiological substrates and inocula agree with in vivo data. Ileal digesta collected from swine fed OB and WB were the substrates. Digesta was fermented for 0-96 h in an anaerobic in vitro system using inocula prepared from ceca of rats fed the same fiber sources. Carbohydrate and short-chain fatty acid (SCFA) contents in the fermentations were measured by gas chromatography. Fermentation of WB digesta did not produce more n-butyrate (P > 0.05) and was significantly slower (P < 0.05) than fermentation of OB digesta. OB digesta fermentation produced a significantly greater (P < 0.05) molar proportion of SCFA as propionate. Bacterial mass increased more and was maintained longer during fermentation of OB digesta than the WB digesta. Our results indicate that dilution of undigested WB fiber and not n-butyrate production is one mechanism by which WB may protect colonic mucosa; propionate production is increased during fermentation of beta-glucan in OB; and an in vitro system using physiological sources of inoculum and substrate containing WB and OB yields results that agree with in vivo findings in humans and rats.     

The influences of muscle fibre proportions and areas upon EMG during maximal dynamic knee extensions

This study is an investigation of the relationship between muscle morphology and surface electromyographic (EMG) parameters [mean frequency of the power spectrum (MNF), signal amplitude (root mean square, RMS) and the signal amplitude ratio (SAR; i.e. the ratio between the RMS level during the passive part of the contraction cycle and the RMS level during the active part of the contraction cycle)] during 100 maximal dynamic knee extensions at 90° · s⁻¹. Each contraction cycle comprised of 1 s of active knee extension and 1 s of passive knee flexion. The surface EMG was recorded from the vastus lateralis muscle. Twenty clinically healthy subjects participated in the study, and muscle biopsy samples of the vastus lateralis were obtained from 19 of those subjects. The relationships between muscle morphology and EMG were investigated at three stages of the test: initially, during the fatigue phase (initial 40 contractions), and at the endurance level (the final 50 contractions). Major findings on correlations are that SAR and MNF tended to correlate positively with the proportion of type 1 fibres, and RMS correlated positively with the proportion of type 2 muscle fibres. The muscle fibre areas showed little correlation with the EMG variables under investigation. The results of the present study showed that the three EMG variables of a dynamic endurance test that were investigated (RMS, MNF and SAR) were clearly correlated with the proportions of the different fibre types, but only to a small extent with fibre areas. These findings contradict some of the theoretical models of the EMG, especially for parameters in the frequency domain. Accepted: 17 June 1999     

The association of Chlamydia trachomatis, Neisseria gonorrhoeae, and group B streptococci with preterm rupture of the membranes and pregnancy outcome

There is conflicting evidence regarding a possible causal role for Chlamydia trachomatis in the development of preterm premature rupture of the membranes. We investigated the relative prevalence of endocervical infection with C. trachomatis and group B streptococci in patients with preterm premature rupture of membranes compared with a control group taken from the same obstetric population. C. trachomatis was isolated from 23/52 (44%) patients with preterm premature rupture of membranes versus 13/84 (15%) women in the control group (p less than 0.001). This association was independent of infection with group B streptococci or Neisseria gonorrhoeae. Group B streptococci were isolated from 16% of the patients with preterm premature rupture of membranes versus 4% of the control population (p less than 0.05). The risk of preterm premature rupture of membranes associated with group B streptococcal infection was independent of infection with C. trachomatis and N. gonorrhoeae. Endocervical infection with C. trachomatis did not significantly affect early maternal complication rates after delivery.     

Spectroscopic imaging of mineral maturation in bovine dentin

Dentin is a useful model for the study of mineral maturation. Using Fourier Transform Infrared Imaging (FTIRI), we characterized distinct regions in developing dentin at 7- micro m spatial resolution. Mineral-to-matrix ratio and crystallinity in bovine dentin from cervical and incisal parts of 3rd-trimester fetal compared with one-year-old incisor crowns showed that virtually all maturation stages in dentin could be spectroscopically isolated and analyzed. In the fetal incisors, mantle and circumpulpal dentin presented distinct patterns of mineral maturation. Gradients in both mineral properties examined were observed at the mineralization front and at the dentino-enamel junction.     

First metatarsophalangeal arthrodesis: a clinical,pedobarographic and gait analysis study

This study investigated the results of first metatarsophalangeal (MTP) arthrodesis in terms of clinical outcome measures, plantar pressure distribution, and gait patterns. Ten feet in nine patients with severe hallux rigidus (HR) who underwent first MTP arthrodesis were studied. The preoperative evaluation included a subjective questionnaire, physical exam, AOFAS hallux score, radiographs and dynamic pedobarography (EMED). At follow-up (average 34 months) these were repeated, and gait analysis studies were obtained. Patients showed significant clinical improvement based on the subjective criteria. The mean AOFAS score improved from 38 preoperatively to 90 postoperatively. Postoperative EMED analysis showed restoration of the weightbearing function of the first ray, with greater maximum force carried by the distal hallux at toe-off. Kinematic and kinetic gait analysis from each patient's operative limb were compared to the unaffected contralateral limb and to age- and sex-matched healthy subjects. The kinematic data indicated a significantly shorter step length with some loss in ankle plantar flexion at toe-off on the fused side. The kinetic data indicated a reduction in both ankle torque and ankle power at push-off. Clinical results indicated effective pain relief and a high level of patient satisfaction, consistent with previous reports in patients with symptomatic Hallux Rigidus.     

Risk factors, angiographic patterns, and outcomes in patients with ventricular septal defect complicating acute myocardial infarction. GUSTO-I (Global Utilization of Streptokinase and TPA for Occluded Coronary Arteries) Trial Investigators

BACKGROUND: Ventricular septal defect (VSD) complicating acute myocardial infarction has been studied primarily in small, prethrombolytic-era trials. Our goal was to determine clinical predictors and angiographic and clinical outcomes of this complication in the thrombolytic era. METHODS AND RESULTS: We compared enrollment characteristics, angiographic patterns, and outcomes (30-day and 1-year mortality) of patients enrolled in the Global Utilization of Streptokinase and TPA for Occluded Coronary Arteries (GUSTO-I) trial with and without a confirmed diagnosis of VSD. Univariable and multivariable analyses were used to assess relations between enrollment factors and the development of VSD. In all, 84 of the 41 021 patients (0.2%) developed VSD, a smaller percentage than reported in the prethrombolytic era. The median time from symptom onset to VSD diagnosis was 1 day. Enrollment factors most associated with this complication were advanced age, anterior infarction, female sex, and no previous smoking. The infarct artery was more often the left anterior descending and more likely to be totally occluded in patients who developed VSD. Mortality at 30 days was higher in patients with VSDs than in those without this complication (73.8% versus 6.8%, P<0.001). Patients with VSDs selected for surgical repair (n=34) had better outcomes than patients treated medically (n=35; 30-day mortality, 47% versus 94%). CONCLUSIONS: Compared with historical control subjects, patients who undergo thrombolysis within 6 hours of infarction onset may have a reduced risk of later VSD. If patients develop this mechanical complication, however, it typically occurs sooner than described in the prethrombolytic era. Despite improvements in medical therapy and percutaneous and surgical techniques, mortality with this complication remains extremely high.