Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review

2006 ◽  
Vol 140A (15) ◽  
pp. 1696-1706 ◽  
Author(s):  
Ying S. Zou ◽  
Daniel L. Van Dyke ◽  
Erik C. Thorland ◽  
Harinderpal S. Chhabra ◽  
Virginia V. Michels ◽  
...  
Keyword(s):  
Literature Review ◽  
Seizure Disorder ◽  
Fish Analysis

Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review

2019 ◽  
Vol 13 (5-6) ◽  
pp. 221-227
Author(s):  
Mona K. Mekkawy ◽  
Alaa K. Kamel ◽  
Nabil Dessouky ◽  
Mohamed Elgharbawy ◽  
Inas Mazen
Keyword(s):  
Literature Review ◽  
Sex Chromosome ◽  
Genetic Disorder ◽  
Large Cohort ◽  
Fish Analysis ◽  
Imaging Studies ◽  
Live Births ◽  
Sex Development ◽  
Gonadal Biopsy ◽  
Combination Frequencies

Ovotesticular difference of sex development (OT DSD) is a rare genetic disorder with an incidence of about 1/100,000 live births. The majority of OT DSD patients show a 46,XX karyotype, others may have 46,XX/46,XY chimerism or exhibit various mosaic sex chromosome combinations, and less commonly they may have a 46,XY karyotype. The aim of this work is to report the clinical, pathological, and karyotypic variations in OT DSD patients diagnosed among a large cohort of DSD patients. The study included 10 patients thoroughly evaluated for clinical, genital, and hormonal abnormalities and subjected to imaging studies, laparoscopy with gonadal biopsy, karyotype, and FISH analysis. The current study revealed a greater percentage of mosaic cell line combinations than previously reported and showed variable cytogenetic abnormalities, including the rare isodicentric (Y)(p11.32) abnormality and X;Y translocation. The study also revealed a unique pattern of gonadal type and combination frequencies. To our knowledge, this is the first study on OT DSD patients among a large cohort of DSD patients in Egypt and the Middle East.

Effect of Computerized Auditory Training on Speech Perception of Adults With Hearing Impairment

2013 ◽  
Vol 20 (3) ◽  
pp. 91-106 ◽  
Author(s):  
Rachel Pizarek ◽  
Valeriy Shafiro ◽  
Patricia McCarthy
Keyword(s):  
Hearing Loss ◽  
Speech Perception ◽  
Literature Review ◽  
Low Cost ◽  
Experimental Designs ◽  
Auditory Training ◽  
Hearing Impairments ◽  
Communicative Disorders ◽  
And Training

Computerized auditory training (CAT) is a convenient, low-cost approach to improving communication of individuals with hearing loss or other communicative disorders. A number of CAT programs are being marketed to patients and audiologists. The present literature review is an examination of evidence for the effectiveness of CAT in improving speech perception in adults with hearing impairments. Six current CAT programs, used in 9 published studies, were reviewed. In all 9 studies, some benefit of CAT for speech perception was demonstrated. Although these results are encouraging, the overall quality of available evidence remains low, and many programs currently on the market have not yet been evaluated. Thus, caution is needed when selecting CAT programs for specific patients. It is hoped that future researchers will (a) examine a greater number of CAT programs using more rigorous experimental designs, (b) determine which program features and training regimens are most effective, and (c) indicate which patients may benefit from CAT the most.

Taking Care of Children After Traumatic Brain Injury

2012 ◽  
Vol 13 (3) ◽  
pp. 79-86 ◽  
Author(s):  
Julie Haarbauer-Krupa
Keyword(s):  
Traumatic Brain Injury ◽  
Brain Injury ◽  
Literature Review ◽  
School Setting ◽  
Leadership Role ◽  
Speech Language Pathologists ◽  
Educational Information ◽  
Taking Care

AbstractPurpose: The purpose of this article is to inform speech-language pathologists in the schools about issues related to the care of children with traumatic brain injury.Method: Literature review of characteristics, outcomes and issues related to the needs serving children.Results: Due to acquired changes in cognition, children with traumatic brain injury have unique needs in a school setting.Conclusions: Speech-Language Pathologists in the school can take a leadership role with taking care of children after a traumatic brain injury and coordination of medical and educational information.

Literature Review

1997 ◽  
Vol 2 (6) ◽  
pp. 7-7
Author(s):  
Robert Haralson
Keyword(s):  
Literature Review

Literature Review

1999 ◽  
Vol 4 (1) ◽  
pp. 9-9
Author(s):  
James B. Talmage
Keyword(s):  
Literature Review

Literature Review

1997 ◽  
Vol 2 (5) ◽  
pp. 7-7
Author(s):  
James B. Talmage
Keyword(s):  
Literature Review

Literature Review

1999 ◽  
Vol 4 (2) ◽  
pp. 11-11
Author(s):  
James B. Talmage
Keyword(s):  
Literature Review
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