What’s new in muscle and peripheral nerve diseases?

2007 ◽  
Vol 20 (04) ◽  
pp. 249-255 ◽  
Author(s):  
G. D. Shelton
Keyword(s):  
Peripheral Nerve ◽  
Molecular Genetics ◽  
Molecular Basis ◽  
Diagnostic Testing ◽  
Companion Animals ◽  
Neuromuscular Diseases ◽  
Molecular Testing ◽  
Testing Procedures ◽  
Clinical Evaluations ◽  
Peripheral Nerve Diseases

SummaryIt is likely that most neuromuscular diseases that are described in humans will have a counterpart in our companion animals. With the advent of molecular genetics and the completion of the canine and feline genomes, an ever expanding number of DNA-based tests should become available for the diagnosis of muscle and peripheral nerve diseases. Molecular testing procedures should enable us to continue to unravel the molecular basis of neuromuscular diseases for which the cause is still unknown. It is important that accurate clinical evaluations and diagnostic testing, including muscle and peripheral nerve biopsies, are performed in order to reach these goals. This review focuses on recently identified inherited neuromuscular diseases in companion animals.

scholarly journals Special Issue “Molecular Basis of Inherited Diseases in Companion Animals”

Genes ◽  
2021 ◽  
Vol 12 (1) ◽  
pp. 68
Author(s):  
Steven G. Friedenberg ◽  
Danika L. Bannasch
Keyword(s):  
Molecular Basis ◽  
Companion Animals ◽  
Special Issue ◽  
Inherited Diseases ◽  
The Past

The study of inherited diseases in companion animals has exploded over the past 15 years since the publication of the first dog genome in 2005 [...]

Financial Determinants of Outcomes in Molecular Testing

1999 ◽  
Vol 123 (11) ◽  
pp. 1071-1075
Author(s):  
Jeffrey S. Ross
Keyword(s):  
Early Detection ◽  
Molecular Pathology ◽  
Diagnostic Procedures ◽  
Financial Impact ◽  
Disease Assessment ◽  
Molecular Testing ◽  
Testing Procedures ◽  
Financial Benefits ◽  
Disease Predisposition

Abstract For the benefits of molecular pathology to outweigh its inherent costs, testing procedures must be integrated into total disease assessment to realize the true financial impact. Major financial benefits are achievable from molecular testing because the tests reduce the use of less sensitive and less specific tests, unnecessary diagnostic procedures, and ineffective therapies. In this review, the financial determinants of outcomes for molecular-based testing for disease predisposition, screening, early detection, and directed therapy are presented.

Peripheral Nerve Diseases

2021 ◽  
Author(s):  
Alexander Fay ◽  
Jonathan Strober
Keyword(s):  
Peripheral Nerve ◽  
Peripheral Nerve Diseases

Assessing the Motor Unit with Needle Electromyography

2009 ◽  
pp. 403-450 ◽  
Author(s):  
Devon I. Rubin
Keyword(s):  
Neuromuscular Junction ◽  
Peripheral Nerve ◽  
Motor Unit ◽  
Neuromuscular Diseases ◽  
Electric Activity ◽  
Great Sensitivity ◽  
Muscle Disease ◽  
Fine Needle ◽  
Needle Electromyography ◽  
Clinical Measures

Virtually all primary neuromuscular diseases result in changes in the electric activity recorded from muscle fibers. These changes can best be depicted using fine needle electrodes inserted into the muscle to record spontaneous and voluntary EMG. Thus, EMG can be used to distinguish among lower motor neuron, peripheral nerve, neuromuscular junction, and muscle disease with great sensitivity and some specificity. The sensitivity is usually greater than clinical measures; specificity in identifying the cause of the disease often requires muscle biopsy or other clinical measures. Although EMG is somewhat uncomfortable for patients because needles need to be inserted into the muscles, it generally is well tolerated by patients and provides a rapid, efficient means of testing the motor unit.

scholarly journals Laboratory Diagnosis of Neonatal Herpes Simplex Virus Infections

2019 ◽  
Vol 57 (5) ◽  
Author(s):  
William J. Muller ◽  
Xiaotian Zheng
Keyword(s):  
Herpes Simplex Virus ◽  
Herpes Simplex ◽  
Diagnostic Testing ◽  
Laboratory Diagnosis ◽  
Clinical Findings ◽  
Molecular Testing ◽  
Virus Infections ◽  
Neonatal Herpes ◽  
Neonatal Herpes Simplex ◽  
Simplex Virus

ABSTRACT Herpes simplex virus (HSV) is a common and often benign infection in humans; although it less commonly affects newborns, infection in this age group can be devastating. Newborns often present with nonspecific clinical findings, making timely and accurate diagnosis of infection critical. A wide variety of tests are available for detecting herpes simplex virus infection, but only a subset are useful and validated in the newborn population. The current review summarizes available diagnostic testing for neonatal disease, including discussing limitations, unmet needs, and emerging data on molecular testing methods.

scholarly journals Molecular Diagnostic Testing for Aspergillus

2016 ◽  
Vol 54 (11) ◽  
pp. 2655-2660 ◽  
Author(s):  
Margaret V. Powers-Fletcher ◽  
Kimberly E. Hanson
Keyword(s):  
Direct Detection ◽  
Diagnostic Testing ◽  
Molecular Diagnostic ◽  
Molecular Testing ◽  
Content Type ◽  
Clinical Specimens ◽  
Molecular Tests ◽  
Assay Performance ◽  
Clinical Mycology ◽  
Invasive Infections

The direct detection ofAspergillusnucleic acid in clinical specimens has the potential to improve the diagnosis of aspergillosis by offering more rapid and sensitive identification of invasive infections than is possible with traditional techniques, such as culture or histopathology. Molecular tests forAspergillushave been limited historically by lack of standardization and variable sensitivities and specificities. Recent efforts have been directed at addressing these limitations and optimizing assay performance using a variety of specimen types. This review provides a summary of standardization efforts and outlines the complexities of molecular testing forAspergillusin clinical mycology.

Two Alleles with RHCE*nt818C>T Change Encode the Low Prevalence Rh Antigen STEM.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 3159-3159 ◽  
Author(s):  
Christine Halter-Hipsky ◽  
Kim Hue-Roye ◽  
Gail Coghlan ◽  
Christine Lomas-Francis ◽  
Marion E. Reid
Keyword(s):  
South African ◽  
Molecular Basis ◽  
Index Case ◽  
Conflicts Of Interest ◽  
Direct Sequencing ◽  
Molecular Testing ◽  
Variable Expression ◽  
New Findings ◽  
Low Prevalence ◽  
Original Index

Abstract Abstract 3159 Poster Board III-96 Background According to the original (and only) report, the low prevalence Rh antigen, STEM, is associated with an altered e phenotype. Approximately 65% of hrS– and 30% of hrB– RBCs from South African donors are STEM+. STEM has a variable expression, which is an inherited characteristic. Anti-STEM has induced mild HDFN (Marais, et al., Transf Med 1993;3:35-41). The purpose of this study was to determine the molecular basis associated with STEM expression. Material and Methods Blood samples and reagents were from our collections. Hemagglutination and DNA extraction were performed by standard methods. Molecular testing included direct sequencing and cloning of cDNA, AS-PCR, PCR-FRLP, and sequencing specific exons of gDNA. Results Three STEM+ samples (including the original index case) had RHCE*ceBI [ce 48C (16C), 712G (238V), 818T (273V), 1132G (378V)] (Noizat-Pirenne, et al., Blood 2002;100:4223-31) and 6 had a new allele, which we name RHCE*ceSM (ce 48C, 712G, 818T). In contrast, 8 STEM– samples (which included hrS– and hrB– samples) did not have the RHCE*818C>T change. RBCs with the ceBI phenotype expressed STEM more strongly than those with the ceSM phenotype. Conclusions The previously reported allele RHCE*ceBI and a new allele, RHCE*ceSM, encode the STEM antigen. This study also revealed other new findings: (i) ceSM encodes a weaker expression of STEM than does ceBI, which explains the previously reported variable expression, (ii) provides an explanation for why not all hrS– and hrB– RBCs express STEM. RBCs with ceAR, ceMO, and ceEK, phenotypes are hrS– STEM–, and RBCs with ceS phenotypes type hrB–, STEM–, (iii) ceBI and ceSM do not express hrS but do express hrB. It is likely that anti-hrS made by hrS– STEM– people (ceAR, ceMO, ceEK) will be incompatible with hrS– STEM+ RBCs, and vice versa. Our findings provide a means to positively identify the STEM+ phenotypes, which, by hemagglutination, is virtually impossible due to the dearth of anti-STEM. Further, it provides a tool to provide suitable antigen-negative RBC products to a patient who has made an ‘e-like’ antibody. Disclosures No relevant conflicts of interest to declare.

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