Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum

2016 ◽  
Vol 3 (2) ◽  
pp. 267-274 ◽  
Author(s):  
Simao Cruz ◽  
Sebastian Figueroa-Bonaparte ◽  
Eduard Gallardo ◽  
Alix de Becdelièvre ◽  
Corine Gartioux ◽  
...  
Keyword(s):  
Bethlem Myopathy

Bethlem myopathy phenotypes and follow up: Description of 8 patients in the mildest end of the spectrum

2016 ◽  
Vol 26 ◽  
pp. S187-S188
Author(s):  
S. Cruz ◽  
S. Figueroa-Bonaparte ◽  
E. Gallardo ◽  
A. de Becdelièvre ◽  
C. Gartioux ◽  
...  
Keyword(s):  
Bethlem Myopathy

scholarly journals Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity

2005 ◽  
Vol 63 (3b) ◽  
pp. 785-790 ◽  
Author(s):  
Umbertina Conti Reed ◽  
Lucio Gobbo Ferreira ◽  
Enna Cristina Liu ◽  
Maria Bernadete Dutra Resende ◽  
Mary Souza Carvalho ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Ventilatory Support ◽  
Congenital Muscular Dystrophy ◽  
Molecular Study ◽  
Collagen Vi ◽  
Bethlem Myopathy ◽  
Recessive Form ◽  
Ullrich Congenital Muscular Dystrophy

Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy. RESULTS: Among 60 patients with CMD, two had no expression of collagen V and their clinical involvement was essentially different: the first (3 years of follow-up) has mild motor difficulty ; the second (8 years of follow-up) never acquired walking and depends on ventilatory support. A molecular study, performed by Pan et al. at the Thomas Jefferson University, demonstrated in the first a known mutation of Bethlem myopathy in COL6A1 and in the second the first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inheritance. CONCLUSION: Bethlem myopathy should be considered in the differential diagnosis of UCMD, even in patients without fingers contractures; overlap between Ullrich and Bethlem phenotypes can be supposed.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

2014 ◽  
Vol 86 (12) ◽  
pp. 1337-1346 ◽  
Author(s):  
N. Deconinck ◽  
P. Richard ◽  
V. Allamand ◽  
A. Behin ◽  
P. Laforet ◽  
...  
Keyword(s):  
Bethlem Myopathy ◽  
Clinical Evolution ◽  
Long Term Follow Up

Therapy and prevention for mental health: What if mental diseases are mostly not brain disorders?

2019 ◽  
Vol 42 ◽  
Author(s):  
John P. A. Ioannidis
Keyword(s):  
Mental Health ◽  
Mental Disease ◽  
Brain Disorders ◽  
Social Stressors ◽  
Labor Education ◽  
Mental Diseases ◽  
Long Term Follow Up ◽  
Political Decisions

AbstractNeurobiology-based interventions for mental diseases and searches for useful biomarkers of treatment response have largely failed. Clinical trials should assess interventions related to environmental and social stressors, with long-term follow-up; social rather than biological endpoints; personalized outcomes; and suitable cluster, adaptive, and n-of-1 designs. Labor, education, financial, and other social/political decisions should be evaluated for their impacts on mental disease.

Brief summary of Kleť photographic search programme for minor planets

1999 ◽  
Vol 173 ◽  
pp. 189-192
Author(s):  
J. Tichá ◽  
M. Tichý ◽  
Z. Moravec
Keyword(s):  
Ccd Camera ◽  
Minor Planet ◽  
Minor Planets ◽  
Main Belt

AbstractA long-term photographic search programme for minor planets was begun at the Kleť Observatory at the end of seventies using a 0.63-m Maksutov telescope, but with insufficient respect for long-arc follow-up astrometry. More than two thousand provisional designations were given to new Kleť discoveries. Since 1993 targeted follow-up astrometry of Kleť candidates has been performed with a 0.57-m reflector equipped with a CCD camera, and reliable orbits for many previous Kleť discoveries have been determined. The photographic programme results in more than 350 numbered minor planets credited to Kleť, one of the world's most prolific discovery sites. Nearly 50 per cent of them were numbered as a consequence of CCD follow-up observations since 1994.This brief summary describes the results of this Kleť photographic minor planet survey between 1977 and 1996. The majority of the Kleť photographic discoveries are main belt asteroids, but two Amor type asteroids and one Trojan have been found.

Intranuclear Crystals in Regenerating Canine Kidneys

1973 ◽  
Vol 31 ◽  
pp. 412-413
Author(s):  
D.G. Osborne ◽  
L.J. McCormack ◽  
M.O. Magnusson ◽  
W.S. Kiser
Keyword(s):  
Epithelial Cell ◽  
Epithelial Cells ◽  
Tubular Epithelial Cell ◽  
Tubular Epithelial Cells ◽  
Cell Nuclei ◽  
Crystalline Structures ◽  
Small Crystals ◽  
Membrane Bound

During a project in which regenerative changes were studied in autotransplanted canine kidneys, intranuclear crystals were seen in a small number of tubular epithelial cells. These crystalline structures were seen in the control specimens and also in regenerating specimens; the main differences being in size and number of them. The control specimens showed a few tubular epithelial cell nuclei almost completely occupied by large crystals that were not membrane bound. Subsequent follow-up biopsies of the same kidneys contained similar intranuclear crystals but of a much smaller size. Some of these nuclei contained several small crystals. The small crystals occurred at one week following transplantation and were seen even four weeks following transplantation. As time passed, the small crystals appeared to fuse to form larger crystals.

Electron Microscopy of Human Gallstones

1971 ◽  
Vol 29 ◽  
pp. 296-297
Author(s):  
C. Wolpers ◽  
R. Blaschke
Keyword(s):  
Electron Microscopy ◽  
Room Temperature ◽  
Bile Pigment ◽  
X Ray Diffraction ◽  
Triclinic Crystal System ◽  
X Ray ◽  
Follow Up Study ◽  
Infra Red ◽  
Main Components

Scanning microscopy was used to study the surface of human gallstones and the surface of fractures. The specimens were obtained by operation, washed with water, dried at room temperature and shadowcasted with carbon and aluminum. Most of the specimens belong to patients from a series of X-ray follow-up study, examined during the last twenty years. So it was possible to evaluate approximately the age of these gallstones and to get information on the intensity of growing and solving.Cholesterol, a group of bile pigment substances and different salts of calcium, are the main components of human gallstones. By X-ray diffraction technique, infra-red spectroscopy and by chemical analysis it was demonstrated that all three components can be found in any gallstone. In the presence of water cholesterol crystallizes in pane-like plates of the triclinic crystal system.

Articulatory Intervention for the Visually Impaired

1979 ◽  
Vol 10 (3) ◽  
pp. 139-144
Author(s):  
Cheri L. Florance ◽  
Judith O’Keefe
Keyword(s):  
High School ◽  
High School Students ◽  
Behavior Change ◽  
Visually Impaired ◽  
School Students ◽  
Handicapped Children ◽  
Paired Stimuli ◽  
Visually Handicapped ◽  
Parent Program

A modification of the Paired-Stimuli Parent Program (Florance, 1977) was adapted for the treatment of articulatory errors of visually handicapped children. Blind high school students served as clinical aides. A discussion of treatment methodology, and the results of administrating the program to 32 children, including a two-year follow-up evaluation to measure permanence of behavior change, is presented.

What Does Evidence-Based Practice Mean to You? A Follow-Up Study Examining School-Based Speech-Language Pathologists' Perspectives on Evidence-Based Practice

2020 ◽  
Vol 29 (2) ◽  
pp. 688-704
Author(s):  
Katrina Fulcher-Rood ◽  
Anny Castilla-Earls ◽  
Jeff Higginbotham
Keyword(s):  
Clinical Practice ◽  
Research Evidence ◽  
Evidence Based Practice ◽  
Evidence Based ◽  
Clinical Expertise ◽  
Speech Language Pathologists ◽  
School Based ◽  
Research Findings ◽  
Ebp Implementation

Purpose The current investigation is a follow-up from a previous study examining child language diagnostic decision making in school-based speech-language pathologists (SLPs). The purpose of this study was to examine the SLPs' perspectives regarding the use of evidence-based practice (EBP) in their clinical work. Method Semistructured phone interviews were conducted with 25 school-based SLPs who previously participated in an earlier study by Fulcher-Rood et al. 2018). SLPs were asked questions regarding their definition of EBP, the value of research evidence, contexts in which they implement scientific literature in clinical practice, and the barriers to implementing EBP. Results SLPs' definitions of EBP differed from current definitions, in that SLPs only included the use of research findings. SLPs seem to discuss EBP as it relates to treatment and not assessment. Reported barriers to EBP implementation were insufficient time, limited funding, and restrictions from their employment setting. SLPs found it difficult to translate research findings to clinical practice. SLPs implemented external research evidence when they did not have enough clinical expertise regarding a specific client or when they needed scientific evidence to support a strategy they used. Conclusions SLPs appear to use EBP for specific reasons and not for every clinical decision they make. In addition, SLPs rely on EBP for treatment decisions and not for assessment decisions. Educational systems potentially present other challenges that need to be considered for EBP implementation. Considerations for implementation science and the research-to-practice gap are discussed.

The Link Between Verbal Short-Term Memory and Anomia Treatment Gains

2019 ◽  
Vol 28 (3) ◽  
pp. 1039-1052
Author(s):  
Reva M. Zimmerman ◽  
JoAnn P. Silkes ◽  
Diane L. Kendall ◽  
Irene Minkina
Keyword(s):  
Short Term Memory ◽  
Controlled Trial ◽  
Treatment Success ◽  
Linear Regression Models ◽  
Language Performance ◽  
Short Term ◽  
Term Memory ◽  
Treatment Gains ◽  
Post Hoc

Purpose A significant relationship between verbal short-term memory (STM) and language performance in people with aphasia has been found across studies. However, very few studies have examined the predictive value of verbal STM in treatment outcomes. This study aims to determine if verbal STM can be used as a predictor of treatment success. Method Retrospective data from 25 people with aphasia in a larger randomized controlled trial of phonomotor treatment were analyzed. Digit and word spans from immediately pretreatment were run in multiple linear regression models to determine whether they predict magnitude of change from pre- to posttreatment and follow-up naming accuracy. Pretreatment, immediately posttreatment, and 3 months posttreatment digit and word span scores were compared to determine if they changed following a novel treatment approach. Results Verbal STM, as measured by digit and word spans, did not predict magnitude of change in naming accuracy from pre- to posttreatment nor from pretreatment to 3 months posttreatment. Furthermore, digit and word spans did not change from pre- to posttreatment or from pretreatment to 3 months posttreatment in the overall analysis. A post hoc analysis revealed that only the less impaired group showed significant changes in word span scores from pretreatment to 3 months posttreatment. Discussion The results suggest that digit and word spans do not predict treatment gains. In a less severe subsample of participants, digit and word span scores can change following phonomotor treatment; however, the overall results suggest that span scores may not change significantly. The implications of these findings are discussed within the broader purview of theoretical and empirical associations between aphasic language and verbal STM processing.

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