Syncoilin upregulation in muscle of patients with neuromuscular disease

Syncoilin may have a role in linking the desmin-associated intermediate filament network of the muscle fiber with the dystrophin-associated protein complex (DAPC). We have evaluated syncoilin in a range of neuromuscular disorders including Duchenne and Becker muscular dystrophy, central core disease, congenital muscular dystrophies, and neurogenic disorders. Our results show that syncoilin immunolabeling is not only altered in muscle fibers with alterations in the DAPC but also in response to a variety of genetic defects, including those associated with proteins of the extracellular matrix and the intracellular Ca2+-release channel (ryanodine receptor). The pattern of syncoilin immunolabeling in these diseases appeared to reflect a rearrangement of the intermediate filament-associated cytoskeleton that characterizes both muscle fiber development and conditions in which the cytoskeletal organization of the muscle fiber is significantly affected. These observations raise the possibility that mutations in the gene encoding for syncoilin may underlie some forms of muscle disease.     

Admissibility of scientific evidence in courts

In its 1993 Daubert v. Merrell Dow opinion, the United States Supreme Court articulated an entirely new set of criteria for the admissibility of scientific expert testimony. In its 1999 Kumho Tire v. Carmichael opinion, the Court extended Daubert's general holding to include non-scientific expert testimony as well. Most modem litigation relies upon the testimony of experts and this testimony can play a dispositive role in litigation. In all parts of the case, liability, causation and damages, lawyers are winning cases by using newly available techniques, suggested by Daubert and Kumho Tire, to exclude the expert testimony that links damages to the act or omission for which their client has been found liable. Our article contains medico-legal analysis of cases, beginning in the application of Israeli case law which discusses the Daubert Court's holding and explaining the scientific principles that the Court cites. The Daubert introduction links to a brief discussion of the Court's 1999 extension of Daubert to non-scientific testimony. We present a two-part model for evaluating the admissibility of scientific evidence--internal and external--in the Israeli courts. The internal examination of the scientific evidence evaluates its reliability by examining the content of the evidence and by checking that its conclusions correspond to the research methods of scientific literature. The court also has to review the abilities and skills of the expert witness. If the evidence passes the internal evaluation, the court will apply an external evaluation by examining whether the scientific evidence coincides with the other evidence presented to the court according to the specific rules of the law applied to the particular case.     

Validity and reliability of the school function assessment in elementary school students with disabilities

This study examined validity of the School Function Assessment (SFA) and interrater reliability of occupational therapist and teacher ratings of students' school function. The validity of the SFA was examined using the known-group method in 35 participants in kindergarten through 7th grade attending elementary schools; 15 students with learning disabilities (LD), 11 students with autism, and 9 students with traumatic brain injury (TBI). The SFA criterion scores for the 23 individual scales were clustered into five distinct parts for the validity analyses. Significant differences in SFA scores among the 3 groups of students were found using Kruskal-Wallis analyses (Chi2 ranged from 9.28 to 20.55, p <.01). Two discriminant analyses demonstrated high correct classification of students with autism and LD, but showed less accurate classification of students with TBI, indicating that the SFA scores of students with TBI did not fall into a systematic pattern for classification. For the interrater reliability study, 16 students' ratings by their teacher and occupational therapist were analyzed. Intraclass correlations resulted in moderate relationships between teacher and occupational therapist ratings for the average criterion scores for the three main sections of the SFA: participation,.70; task supports,.68; and activity performance,.73. Results of this study are discussed in terms of validity of score interpretation and the reliability of different team members completing the SFA questionnaire.     

Single versus weekly courses of antenatal corticosteroids in preterm premature rupture of membranes

OBJECTIVE: This study was performed to evaluate the efficacy of weekly courses of antenatal corticosteroids compared with a single course in women with preterm premature rupture of membranes (PROM). METHODS: A planned secondary analysis of women with preterm PROM who participated in a multicenter, randomized trial of weekly courses of antenatal corticosteroids versus single-course therapy was performed. After their first course of standard antenatal steroid therapy, administered between 24 to 32-6/7 weeks of gestation, consenting women were randomly assigned to receive betamethasone versus placebo injections weekly until 34-0/7 weeks of gestation. Maternal and neonatal morbidities were compared between the 2 groups. RESULTS: Of the 161 women with preterm PROM, 81 women were assigned to receive weekly courses of steroids and 80 to the single-course group. There were no significant differences in composite morbidity between the groups (27 [34.2%] of 81 patients versus 33 [41.8%] of 80 patients, P =.41). Chorioamnionitis was higher in patients who received weekly courses of antenatal steroids (39 [49.4%] of 81 patients versus 25 [31.7%] of 80 patients, P =.04). CONCLUSION: Weekly courses of antenatal steroids in women with preterm PROM did not improve neonatal outcomes beyond that achieved with single-course therapy and was associated with an increased risk of chorioamnionitis. Antenatal steroid therapy should not be routinely repeated in patients with preterm PROM. LEVEL OF EVIDENCE: I     

Effect of antagonists vs agonists on in vitro fertilization outcome

PURPOSE: To compare outcome following in vitro fertilization-embryo transfer (IVF-ET) using controlled ovarian hyperstimulation (COH) regimens using either the gonadotropin-releasing hormone (GnRH) agonist leuprolide acetate vs the GnRH antagonist ganirelix. METHODS: Women needing IVF for conception were randomly assigned to 300 IU of gonadotropins with ganirelix used in the follicular phase when a follicle with a 14 mm average diameter was attained vs a regimen using leuprolide acetate from the mid-luteal phase of the previous cycle. RESULTS: There were no differences found in clinical, ongoing, delivered pregnancy rates or implantation rates between groups. CONCLUSIONS: The use of GnRH antagonists do not seem to reduce IVF outcome compared to using GnRH agonists in COH regimens.     

The use of phosphate enemas in the treatment of constipation

Phosphate enemas are commonly used by community nurses in the treatment of constipation. This article reports on a literature review of evidence relating to their use. No evidence was found to support the use of these enemas conclusively, although a number of articles reported risks, contraindications, and complications. Phosphate enemas should therefore be used with caution and nurses should be aware of the contraindications associated with their use.