Clinical Implications of Mosaicism and Low-Level Mosaicism in Neurocutaneous Disorders

2020 ◽  
Vol 8 (4) ◽  
pp. 132-139
Author(s):  
Heather B. Radtke ◽  
Leah E. Lalor ◽  
Donald G. Basel ◽  
Dawn H. Siegel
Keyword(s):  
Clinical Implications ◽  
Low Level

scholarly journals Approach to the Liver Biopsy in the Patient With Chronic Low-Level Aminotransferase Elevations

2018 ◽  
Vol 142 (10) ◽  
pp. 1186-1190 ◽  
Author(s):  
Mark G. Ettel ◽  
Henry D. Appelman
Keyword(s):  
Liver Biopsy ◽  
Liver Enzyme ◽  
Clinical Features ◽  
Asymptomatic Patient ◽  
Clinical Implications ◽  
Low Level ◽  
Parenchymal Liver ◽  
Histologic Changes

Pathologists sometimes encounter a liver biopsy from an asymptomatic patient with unexplained low-level parenchymal liver enzyme elevations. These biopsies often have minor histologic changes but are otherwise almost entirely normal. This can lead to the quandary of whether or not the features are clinically meaningful and how one must formulate a diagnosis from the possibly nonspecific findings of a near-normal biopsy. The following discussion focuses on the histologic changes that can be seen in these biopsies and the practical issues involved in making a diagnosis that provides useful information to the clinician. The literature and textbooks addressing the histologic and clinical features of these cases are reviewed with an emphasis on the clinical implications of finding nonspecific histologic alterations in these patients.

Effects of Selected Rhinologic Disorders on the Perception of Nasal Resonance in Children

1984 ◽  
Vol 15 (1) ◽  
pp. 44-50 ◽  
Author(s):  
Michael P. Rastatter ◽  
Melvin Hyman
Keyword(s):  
Allergic Rhinitis ◽  
Clinical Implications ◽  
Normal Children ◽  
Nasal Resonance

A group of sophisticated listeners judged the nasal resonance characteristics of normal children versus children evidencing selected rhinologic disorders under three speaking conditions. Results showed that perceptions of denasality are influenced by both speakers and speaking tasks. That is, children with allergic rhinitis and edemic adenoids were perceived as being denasal when they produced VCV utterances and recited sentences. However, their resonance characteristics were deemed normal for vowel productions. Interestingly, children with severely deviated septums were judged to have normal nasal resonance under all speaking conditions. Clinical implications are discussed.

Perceptions of Stuttering of Different Age Groups

2019 ◽  
Vol 4 (6) ◽  
pp. 1311-1315
Author(s):  
Sergey M. Kondrashov ◽  
John A. Tetnowski
Keyword(s):  
Age Groups ◽  
School Age Children ◽  
Clinical Implications ◽  
School Age ◽  
Fourth Edition ◽  
Self Perception ◽  
Behavioral Measures ◽  
Self Rating ◽  
Comparison Results ◽  
Subject Pool

Purpose The purpose of this study was to assess the perceptions of stuttering of school-age children who stutter and those of adults who stutter through the use of the same tools that could be commonly used by clinicians. Method Twenty-three participants across various ages and stuttering severity were administered both the Stuttering Severity Instrument–Fourth Edition (SSI-4; Riley, 2009 ) and the Wright & Ayre Stuttering Self-Rating Profile ( Wright & Ayre, 2000 ). Comparisons were made between severity of behavioral measures of stuttering made by the SSI-4 and by age (child/adult). Results Significant differences were obtained for the age comparison but not for the severity comparison. Results are explained in terms of the correlation between severity equivalents of the SSI-4 and the Wright & Ayre Stuttering Self-Rating Profile scores, with clinical implications justifying multi-aspect assessment. Conclusions Clinical implications indicate that self-perception and impact of stuttering must not be assumed and should be evaluated for individual participants. Research implications include further study with a larger subject pool and various levels of stuttering severity.

Treatment Considerations for Adolescents Who Exhibit Cognitive/Communication Problems: A Neuroscience Perspective

2020 ◽  
Vol 5 (6) ◽  
pp. 1767-1775
Author(s):  
Martha S. Burns
Keyword(s):  
Social Communication ◽  
Transition Period ◽  
Clinical Intervention ◽  
Review Article ◽  
Sensitive Period ◽  
Clinical Implications ◽  
Evidence Based ◽  
Communication Problems ◽  
Treatment Considerations ◽  
Behavioral Growth

Purpose Adolescence is a period of substantial neurophysiological and behavioral growth, representing a second sensitive period of brain development. It is a psychological and social transition period between childhood and adulthood with many beneficial changes occurring, especially with respect to potential responsiveness to clinical intervention. However, adolescent behavioral complexities introduce clinical challenges as well. The purpose of this review article is to review the current neuroimaging research on neurophysiological changes observed during adolescence and the cognitive and social behavioral counterparts, with specific attention to the clinical implications. The review article will then summarize currently available intervention tools that can be utilized by speech-language pathologists working with this population. It will conclude with available evidence-based social-communication approaches that may be applicable as well as available evidence-based supplemental technological cognitive interventions that may be useful in working with adolescents who exhibit language and communication issues. Conclusion As a transition period between childhood and adulthood, adolescence represents a second sensitive period during which there is opportunity for clinically derived beneficial cognitive and communication growth.

Laryngeal Manifestations of Autoimmune Diseases

2020 ◽  
Vol 5 (2) ◽  
pp. 439-456
Author(s):  
Jenny L. Pierce
Keyword(s):  
Autoimmune Disease ◽  
Autoimmune Diseases ◽  
Patient Outcomes ◽  
Correct Diagnosis ◽  
Upper Airway ◽  
Clinical Implications ◽  
Laryngeal Function ◽  
The Past ◽  
Referral Practices ◽  
Timely Referral

Purpose This review article provides an overview of autoimmune diseases and their effects on voice and laryngeal function. Method A literature review was conducted in PubMed. Combinations of the following keywords were used: “autoimmune disease and upper airway,” “larynx,” “cough,” “voice,” “dysphonia,” and “dyspnea.” Precedence was given to articles published in the past 10 years due to recent advances in this area and to review articles. Ultimately, 115 articles were included for review. Results Approximately 81 autoimmune diseases exist, with 18 of those highlighted in the literature as having laryngeal involvement. The general and laryngeal manifestations of these 18 are discussed in detail, in addition to the clinical implications for a laryngeal expert. Conclusions Voice, breathing, and cough symptoms may be an indication of underlying autoimmune disease. However, these symptoms are often similar to those in the general population. Appropriate differential diagnosis and timely referral practices maximize patient outcomes. Guidelines are provided to facilitate correct diagnosis when an autoimmune disease is suspected.

The Nature of Deviant Articulation

1973 ◽  
Vol 38 (2) ◽  
pp. 156-161 ◽  
Author(s):  
Laurence B. Leonard
Keyword(s):  
Clinical Implications ◽  
Phonological System

This paper examines the credibility of deviant articulation as a less mature phonological system and as an individual phonological system with its own rules. Evidence is presented suggesting that both types of deviant phonological systems may occur in the articulatory defective population. The clinical implications of each type of deviant system are presented.

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