Consensus Statement on Standard of Care for Congenital Myopathies

Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee's recommendations for symptom assessments and therapeutic interventions. It is the committee's goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.

Searching for resonances in the unbound Be-6 nucleus by using a radioactive Be-7 beam

Knowledge of the He-3(He-3,2p)He-4 reaction is important for understanding stellar burning and solar neutrino production. Previous measurements have found a surprisingly large rise in the cross section at low energies that could be due to a low-energy resonance in the He-3 + He-3 (Be-6) system or electron screening. In the Be-6 nucleus, however, no excited states have been observed above the first 2(+) state at E (x) = 1.67 MeV up to 23 MeV, even though several are expected. The H-2(Be-7,H-3)Be-6 reaction has been studied for the first time to search for resonances in the Be-6 nucleus that may affect our understanding of the He-3(He-3,2p)He-4 reaction. A 100-MeV radioactive Be-7 beam from the Holifield Radioactive Ion Beam Facility (HRIBF) was used to bombard CD2 targets, and tritons were detected by using the silicon detector array (SIDAR). A combination of reaction mechanisms appears to be necessary to explain the observed triton energy spectrum.

Comparison of the reliability of multifocal visual evoked cortical potentials generated by pattern reversal and pattern pulse stimulation

This study compared the effectiveness of the multifocal visual evoked cortical potentials (mfVEP) elicited by pattern pulse stimulation with that of pattern reversal in producing reliable responses (signal-to-noise ratio >1.359). Participants were 14 healthy subjects. Visual stimulation was obtained using a 60-sector dartboard display consisting of 6 concentric rings presented in either pulse or reversal mode. Each sector, consisting of 16 checks at 99% Michelson contrast and 80 cd/m² mean luminance, was controlled by a binary m-sequence in the time domain. The signal-to-noise ratio was generally larger in the pattern reversal than in the pattern pulse mode. The number of reliable responses was similar in the central sectors for the two stimulation modes. At the periphery, pattern reversal showed a larger number of reliable responses. Pattern pulse stimuli performed similarly to pattern reversal stimuli to generate reliable waveforms in R1 and R2. The advantage of using both protocols to study mfVEP responses is their complementarity: in some patients, reliable waveforms in specific sectors may be obtained with only one of the two methods. The joint analysis of pattern reversal and pattern pulse stimuli increased the rate of reliability for central sectors by 7.14% in R1, 5.35% in R2, 4.76% in R3, 3.57% in R4, 2.97% in R5, and 1.78% in R6. From R1 to R4 the reliability to generate mfVEPs was above 70% when using both protocols. Thus, for a very high reliability and thorough examination of visual performance, it is recommended to use both stimulation protocols.

STAT3 and SOCS3 expression patterns during murine placenta development

Signal transducers and activators of transcription 3 (STAT3) has been identified as an important signal transducer in the invasive phenotype of the trophoblasts cells in in vitro studies. However, the in situ distribution and patterns of expression of this molecule in trophoblast cells during the development of the placenta are still under-elucidated. Mice uteri of gestational ages between 7 and 14 days of pregnancy (dop) were fixed in methacarn and processed with immunoperoxidase techniques for detection of STAT3 and its phosphorylation at serine (p-ser727) residues, as well as the suppressor of cytokine signaling 3 (SOCS3) expression. STAT3 was observed at 7 through 9 dop in both the antimesometrial and mesometrial deciduas, while continued immunoreactivity between 10 and 13 dop was seen only in the mesometrial decidua. In the placenta, STAT3 was detected in the cytotrophoblast cells of labyrinth and giant trophoblast cells between 10 and 14 dop. Immunoreactivity for STAT3 was also seen in trophoblast cells surrounding the maternal blood vessels. On days 10 and 11 of pregnancy, p-ser727 was detectable in the mesometrial decidua and in giant trophoblasts, while during 12-14 dop in the spongiotrophoblast region. In addition, SOCS3 was immunodetected in maternal and placental tissues, principally in the giant trophoblast cells during the whole period of the study. The present in situ study shows the distribution of STAT3, its serine activation and SOCS3 in different maternal and fetal compartments during murine placental development, thus further supporting the idea that they play a role during physiological placentation in mice.