scholarly journals CLIA Laboratory Testing for Facioscapulohumeral Dystrophy (FSHD): A Retrospective Analysis

Neurology ◽  
2020 ◽  
pp. 10.1212/WNL.0000000000011412
Author(s):  
Autumn Rieken ◽  
Aaron D. Bossler ◽  
Katherine D. Mathews ◽  
Steven A. Moore
Keyword(s):  
Fragment Size ◽  
Diagnostic Testing ◽  
Somatic Mosaicism ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Restriction Enzyme Digestion ◽  
University Of Iowa ◽  
Diagnostic Laboratory ◽  
Pathology Laboratory ◽  
D4z4 Repeat ◽  
The University

Objective:To summarize facioscapulohumeral muscular dystrophy (FSHD) diagnostic testing results from the University of Iowa Molecular Pathology Laboratory.Methods:All FSHD tests performed in the diagnostic laboratory January 2015-July 2019 were retrospectively reviewed. Testing was by restriction enzyme digestion and Southern blot analysis with sequencing of SMCHD1, if indicated. Cases were classified as FSHD1 (4q35 EcoRI size ≤40kb; 1-10 D4Z4 repeats), FSHD2 (permissive 4q35A allele, D4Z4 hypomethylation, and pathogenic SMCHD1 variant), or non-FSHD1,2. We also noted cases with borderline EcoRI fragment size (41-43kb; 11 D4Z4 repeats), cases that meet criteria for both FSHD1 and FSHD2, somatic mosaicism, and cases with hybrid alleles that add complexity to test interpretation.Results:Of the 1594 FSHD tests included in the analysis, 703 (44.1%) were diagnosed with FSHD. Among these positive tests, 664 (94.5%) met criteria for FSHD1 and 39 (5.5%) met criteria for FSHD2. Of all 1594 cases, 20 (1.3%) had a 4q35 allele of borderline size, 23 (1.5%) were somatic mosaics, and 328 (20.9%) had undergone translocation events. Considering only cases with at least one 4q35A allele, D4Z4 repeat number differed significantly among groups: FSHD1 cases median of 6.0 (IQR: 4-7) repeats, FSHD2 cases 15.0 (IQR: 12-22) repeats, and non-FSHD1,2 cases 28.0 (IQR: 19-40) repeats.Conclusion:FSHD1 accounts for 94.5% of genetically confirmed cases of FSHD. The data show a continuum of D4Z4 repeat numbers with FSHD1 samples having the fewest, FSHD2 an intermediate number, and non-FSHD1,2 the most.

scholarly journals Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy

2011 ◽  
Vol 152 (39) ◽  
pp. 1576-1585 ◽  
Author(s):  
Henriett Pikó ◽  
Mária Judit Molnár ◽  
Ágnes Herczegfalvi ◽  
Péter Mayer ◽  
Veronika Karcagi
Keyword(s):  
Muscular Dystrophy ◽  
Fragment Size ◽  
Restriction Analysis ◽  
Methylation Status ◽  
Prenatal Testing ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
D4z4 Repeat ◽  
Modifying Factors ◽  
Diagnostic Panel ◽  
Total Dna

Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of the D4Z4 repeat region on 4q35. In addition, epigenetic modifying factors play a role in the complex pathomechanism of the disease. Aims: Introduction of a new diagnostic panel in Hungary for the extended molecular analysis of the disease which also provides new insights into the pathomechanism. Methods: In total, DNA samples of 185 clinically diagnosed FSHD patients and 71 asymptomatic relatives were analyzed by EcoRI and BlnI restriction digestion and Southern blot technique with probe p13-E11. Further investigations of the 4q35 alleles associated with the FSHD phenotype utilized qA and qB probes and a restriction analysis of the proximal D4Z4 unit by detecting a G/C SNP and the methylation status. Results: From the patients analyzed 115 had the D4Z4 repeat contraction, whereas from 71 asymptomatic family members five harbored the pathogenic fragment size. In eight families, prenatal testing had to be offered with an outcome of four affected fetuses. Methylation test was performed in 31 genetically confirmed FSHD patients and hypomethylation status was detected in all cases. All the 115 confirmed patients had 4qA alleles with the G polymorphism. Translocation events between 4q35 and the homologous 10q26 regions were also detected. Conclusion: Molecular diagnosis of FSHD became a routine approach in Hungary thus supporting the work of the clinicians, improving quality of life and genetic counseling of the affected families. The provided results from this research suggest that FSHD is associated with complex epigenetic disease mechanisms. Orv. Hetil., 2011, 152, 1576–1585.

The consolidation of microscopy technology into a university research support facility: Reflections on the 1980's and projections for the 1990's at the university of iowa

1993 ◽  
Vol 51 ◽  
pp. 476-477
Author(s):  
Kenneth C. Moore
Keyword(s):  
Laser Scanning ◽  
Freeze Fracture ◽  
Freeze Substitution ◽  
Research Support ◽  
University Of Iowa ◽  
Staff Members ◽  
The Past ◽  
Research Grade ◽  
The University ◽  
Support Facility

The University of Iowa Central Electron Microscopy Research Facility(CEMRF) was established in 1981 to support all faculty, staff and students needing this technology. Initially the CEMRF was operated with one TEM, one SEM, three staff members and supported about 30 projects a year. During the past twelve years, the facility has replaced all instrumentation pre-dating 1981, and now includes 2 TEM's, 2 SEM's, 2 EDS systems, cryo-transfer specimen holders for both TEM and SEM, 2 parafin microtomes, 4 ultamicrotomes including cryoultramicrotomy, a Laser Scanning Confocal microscope, a research grade light microscope, an Ion Mill, film and print processing equipment, a rapid cryo-freezer, freeze substitution apparatus, a freeze-fracture/etching system, vacuum evaporators, sputter coaters, a plasma asher, and is currently evaluating scanning probe microscopes for acquisition. The facility presently consists of 10 staff members and supports over 150 projects annually from 44 departments in 5 Colleges and 10 industrial laboratories. One of the unique strengths of the CEMRF is that both Biomedical and Physical scientists use the facility.

Five Decades of Research Experience in Speech Anatomy and Physiology

2016 ◽  
Vol 1 (5) ◽  
pp. 4-12
Author(s):  
David P. Kuehn
Keyword(s):  
Ohio State University ◽  
State University ◽  
Research Experience ◽  
University Of Iowa ◽  
University Of Illinois ◽  
Anatomy And Physiology ◽  
The Ohio State University ◽  
Speech Science ◽  
The University ◽  
East Carolina University

This report highlights some of the major developments in the area of speech anatomy and physiology drawing from the author's own research experience during his years at the University of Iowa and the University of Illinois. He has benefited greatly from mentors including Professors James Curtis, Kenneth Moll, and Hughlett Morris at the University of Iowa and Professor Paul Lauterbur at the University of Illinois. Many colleagues have contributed to the author's work, especially Professors Jerald Moon at the University of Iowa, Bradley Sutton at the University of Illinois, Jamie Perry at East Carolina University, and Youkyung Bae at the Ohio State University. The strength of these researchers and their students bodes well for future advances in knowledge in this important area of speech science.

Rheometers, Bioreactors, and Vocalization Forces: Using Basic Science Investigations to Help the Voices of Teachers

2008 ◽  
Vol 18 (3) ◽  
pp. 119-125
Author(s):  
Sarah Klemuk
Keyword(s):  
Basic Science ◽  
Tissue Growth ◽  
University Of Iowa ◽  
Support Cell ◽  
Rest Periods ◽  
Collaborative Studies ◽  
Professional Voice Users ◽  
The University ◽  
Science Investigations ◽  
Professional Voice

Abstract Collaborative studies at the University of Iowa and the National Center for Voice and Speech aim to help the voices of teachers. Investigators study how cells and tissues respond to vibration doses simulating typical vocalization patterns of teachers. A commercially manufactured instrument is uniquely modified to support cell and tissue growth, to subject tissues to vocalization-like forces, and to measure viscoelastic properties of tissues. Through this basic science approach, steps toward safety limits for vocalization and habilitating rest periods for professional voice users will be achieved.

The Kontakte Multimedia Project at The University of Iowa

2013 ◽  
Vol 17 (1) ◽  
pp. 25-42 ◽  
Author(s):  
James P. Pusack
Keyword(s):  
University Of Iowa ◽  
The University

Evaluation of positive and negative symptoms in schizophrenia

1986 ◽  
Vol 1 (2) ◽  
pp. 108-122 ◽  
Author(s):  
Nancy C. Andreasen ◽  
William M. Grove
Keyword(s):  
Negative Symptoms ◽  
The United States ◽  
Psychotic Symptoms ◽  
Positive Symptoms ◽  
University Of Iowa ◽  
Normal Functions ◽  
Subsequent Investigation ◽  
The University ◽  
The Relationship ◽  
Positive And Negative Symptoms

SummaryMost investigators concur that schizophrenia is probably a heterogeneous group of disorders that share the common features of psychotic symptoms, partial response to neuroleptics, and a relatively poor outcome. The subdivision of schizophrenia into two subtypes, positive versus negative, has achieved wide acceptance throughout the world during recent years. This distinction has heuristic and theoretical appeal because it unites phenomenology, pathophysiology, and etiology into a single comprehensive hypothesis.In spite of its wide appeal, the distinction has a number of problems. These include the failure to distinguish between symptom syndromes and diseases; failure to deal with the mixed patient; failure to take longitudinal course into account; and failure to address conceptually and methodologically the distinction between positive and negative symptoms.This paper focuses primarily on the conceptual basis for two instruments designed to measure positive and negative symptoms, the Scale for the Assessment of Negative Symptoms (SANS) and the Scale for the Assessment of Positive Symptoms (SAPS), originally described in 1982. Since their description, these scales have been used in a variety of other centers. These scales are based on the hypothesis that negative symptoms represent a deficit or diminution in normal psychological functions wliile positive symptoms represent an excess or distortion of normal functions. Reliability data are now available from Italy, Spain, and Japan which suggest that these scales can be used reliably in cultural settings outside the United States. The results of these studies are summarized in this paper. In addition, a replication study involving a new sample of 117 schizophrenics collected at the University of Iowa is described. In this second study of the SANS and SAPS, internal consistency is found to be quite high in the SANS. Thus negative symptoms appear to be more internally correlated with one another than are positive symptoms. The implications of this result are discussed. A principal components analysis is used to explore the relationship between positive and negative symptoms. While the study reported in 1982 suggested that positive and negative symptoms are negatively correlated, in the present study they appear to be uncorrelated. Overall, the results suggest that the SANS and SAPS are useful comprehensive instruments for the evaluation of positive and negative symptoms. The relationship between these symptoms and external validators such as cognitive functioning or CT scan abnormalities will be reported in a subsequent investigation.

Comparison of Auditory Steady-State Response and Auditory Brainstem Response Thresholds in Children

2002 ◽  
Vol 13 (05) ◽  
pp. 227-235 ◽  
Author(s):  
Kathy R. Vander Werff ◽  
Carolyn J. Brown ◽  
Barbara A. Gienapp ◽  
Kelly M. Schmidt Clay
Keyword(s):  
Steady State ◽  
Auditory Brainstem Response ◽  
Auditory Brainstem ◽  
Strong Correlations ◽  
University Of Iowa ◽  
Brainstem Response ◽  
Steady State Responses ◽  
Children With Hearing Loss ◽  
Auditory Steady State Responses ◽  
The University

Recently, auditory steady-state responses (ASSRs) have been proposed as an alternative to the auditory brainstem response (ABR) for threshold estimation. The goal of this study was to investigate the degree to which ASSR thresholds correlate with ABR thresholds for a group of sedated children with a range of hearing losses. Thirty-two children from the University of Iowa Hospitals and Clinics ranging in age from 2 months to 3 years and presenting with a range of ABR thresholds participated. Strong correlations were found between the 2000-Hz ASSR thresholds and click ABR thresholds (r = .96), the average of the 2000- and 4000-Hz ASSR thresholds and click ABR thresholds (r = .97), and the 500-Hz ASSR and 500-Hz toneburst ABR thresholds (r = .86). Additionally, it was possible to measure ASSR thresholds for several children with hearing loss that was great enough to result in no ABR at the limits of the equipment. The results of this study indicate that the ASSR may provide a reasonable alternative to the ABR for estimating audiometric thresholds in very young children.

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