scholarly journals The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

2012 ◽  
Vol 33 (9) ◽  
pp. 1324-1332 ◽  
Author(s):  
Joshua Hersheson ◽  
Andrea Haworth ◽  
Henry Houlden
2018 ◽  
Vol 210 (1) ◽  
pp. 30-38 ◽  
Author(s):  
Daniel Chow ◽  
Peter Chang ◽  
Brent D. Weinberg ◽  
Daniela A. Bota ◽  
Jack Grinband ◽  
...  

2011 ◽  
Vol 2011 ◽  
pp. 1-13 ◽  
Author(s):  
Hyundoo Hwang ◽  
Je-Kyun Park

This paper presents optoelectrofluidic technologies for manipulation of nanoparticles and biomolecules. Optoelectrofluidics provides an elegant scheme for the programmable manipulation of particles or fluids in microenvironments based on optically induced electrokinetics. Recent progress on the optoelectrofluidic manipulation of nanoobjects, which include nanospheres, nanowires, nanotubes, and biomolecules, is introduced. Some potential applications of the optoelectrofluidic nanoparticle manipulation, such as nanoparticles separation, nanostructures manufacturing, molecular physics, and clinical diagnostics, and their future directions are also discussed.


CNS Spectrums ◽  
2015 ◽  
Vol 20 (3) ◽  
pp. 254-279 ◽  
Author(s):  
Daniel R. Rosell ◽  
Larry J. Siever

Aggression and violence represent a significant public health concern and a clinical challenge for the mental healthcare provider. A great deal has been revealed regarding the neurobiology of violence and aggression, and an integration of this body of knowledge will ultimately serve to advance clinical diagnostics and therapeutic interventions. We will review here the latest findings regarding the neurobiology of aggression and violence. First, we will introduce the construct of aggression, with a focus on issues related to its heterogeneity, as well as the importance of refining the aggression phenotype in order to reduce pathophysiologic variability. Next we will examine the neuroanatomy of aggression and violence, focusing on regional volumes, functional studies, and interregional connectivity. Significant emphasis will be on the amygdala, as well as amygdala–frontal circuitry. Then we will turn our attention to the neurochemistry and molecular genetics of aggression and violence, examining the extensive findings on the serotonergic system, as well as the growing literature on the dopaminergic and vasopressinergic systems. We will also address the contribution of steroid hormones, namely, cortisol and testosterone. Finally, we will summarize these findings with a focus on reconciling inconsistencies and potential clinical implications; and, then we will suggest areas of focus for future directions in the field.


2021 ◽  
Vol 12 ◽  
Author(s):  
Jordy Evan Sulaiman ◽  
Henry Lam

Recent laboratory evolution studies have shown that upon repetitive antibiotic treatments, bacterial populations will adapt and eventually became tolerant and resistant to the drug. Drug tolerance rapidly evolves upon frequent, intermittent antibiotic treatments, and such emerging drug tolerance seems to be specific to the treatment conditions, complicating clinical practice. Moreover, it has been shown that tolerance often promotes the development of resistance, which further reinforces the need of clinical diagnostics for antibiotic tolerance to reduce the occurrence of acquired resistance. Here, we discuss the laboratory evolution studies that were performed to track the development of tolerance in bacterial populations, and highlight the urgency of developing a comprehensive knowledge base of various tolerance phenotypes and their detection in clinics. Finally, we propose future directions for basic research in this growing field.


Molecules ◽  
2019 ◽  
Vol 24 (5) ◽  
pp. 941 ◽  
Author(s):  
Yang Zhang ◽  
Bo Lai ◽  
Mario Juhas

Aptamers are short, single-stranded DNA, RNA, or synthetic XNA molecules that can be developed with high affinity and specificity to interact with any desired targets. They have been widely used in facilitating discoveries in basic research, ensuring food safety and monitoring the environment. Furthermore, aptamers play promising roles as clinical diagnostics and therapeutic agents. This review provides update on the recent advances in this rapidly progressing field of research with particular emphasis on generation of aptamers and their applications in biosensing, biotechnology and medicine. The limitations and future directions of aptamers in target specific delivery and real-time detection are also discussed.


Author(s):  
M. J. Kramer ◽  
Alan L. Coykendall

During the almost 50 years since Streptococcus mutans was first suggested as a factor in the etiology of dental caries, a multitude of studies have confirmed the cariogenic potential of this organism. Streptococci have been isolated from human and animal caries on numerous occasions and, with few exceptions, they are not typable by the Lancefield technique but are relatively homogeneous in their biochemical reactions. An analysis of the guanine-cytosine (G-C) composition of the DNA from strains K-1-R, NCTC 10449, and FA-1 by one of us (ALC) revealed significant differences and DNA-DNA reassociation experiments indicated that genetic heterogeneity existed among the three strains. The present electron microscopic study had as its objective the elucidation of any distinguishing morphological characteristics which might further characterize the respective strains.


Author(s):  
Benjamin F. Trump ◽  
Irene K. Berezesky ◽  
Raymond T. Jones

The role of electron microscopy and associated techniques is assured in diagnostic pathology. At the present time, most of the progress has been made on tissues examined by transmission electron microscopy (TEM) and correlated with light microscopy (LM) and by cytochemistry using both plastic and paraffin-embedded materials. As mentioned elsewhere in this symposium, this has revolutionized many fields of pathology including diagnostic, anatomic and clinical pathology. It began with the kidney; however, it has now been extended to most other organ systems and to tumor diagnosis in general. The results of the past few years tend to indicate the future directions and needs of this expanding field. Now, in addition to routine EM, pathologists have access to the many newly developed methods and instruments mentioned below which should aid considerably not only in diagnostic pathology but in investigative pathology as well.


2019 ◽  
Vol 28 (4) ◽  
pp. 877-894
Author(s):  
Nur Azyani Amri ◽  
Tian Kar Quar ◽  
Foong Yen Chong

Purpose This study examined the current pediatric amplification practice with an emphasis on hearing aid verification using probe microphone measurement (PMM), among audiologists in Klang Valley, Malaysia. Frequency of practice, access to PMM system, practiced protocols, barriers, and perception toward the benefits of PMM were identified through a survey. Method A questionnaire was distributed to and filled in by the audiologists who provided pediatric amplification service in Klang Valley, Malaysia. One hundred eight ( N = 108) audiologists, composed of 90.3% women and 9.7% men (age range: 23–48 years), participated in the survey. Results PMM was not a clinical routine practiced by a majority of the audiologists, despite its recognition as the best clinical practice that should be incorporated into protocols for fitting hearing aids in children. Variations in practice existed warranting further steps to improve the current practice for children with hearing impairment. The lack of access to PMM equipment was 1 major barrier for the audiologists to practice real-ear verification. Practitioners' characteristics such as time constraints, low confidence, and knowledge levels were also identified as barriers that impede the uptake of the evidence-based practice. Conclusions The implementation of PMM in clinical practice remains a challenge to the audiology profession. A knowledge-transfer approach that takes into consideration the barriers and involves effective collaboration or engagement between the knowledge providers and potential stakeholders is required to promote the clinical application of evidence-based best practice.


2008 ◽  
Vol 18 (1) ◽  
pp. 31-40 ◽  
Author(s):  
David J. Zajac

Abstract The purpose of this opinion article is to review the impact of the principles and technology of speech science on clinical practice in the area of craniofacial disorders. Current practice relative to (a) speech aerodynamic assessment, (b) computer-assisted single-word speech intelligibility testing, and (c) behavioral management of hypernasal resonance are reviewed. Future directions and/or refinement of each area are also identified. It is suggested that both challenging and rewarding times are in store for clinical researchers in craniofacial disorders.


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