scholarly journals Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations

2021 ◽  
Vol 9 (9) ◽  
Author(s):  
Aude Anquetil ◽  
Suonavy Khung Savatovsky ◽  
Laurent Gavard ◽  
Anne Bazin ◽  
Fabien Guimiot ◽  
...  
Keyword(s):  
Case Report ◽  
Brca2 Mutations

Fanconi anemia with biallelic FANCD1/BRCA2 mutations – Case report of a family with three affected children

2016 ◽  
Vol 59 (3) ◽  
pp. 152-157 ◽  
Author(s):  
Karel Svojgr ◽  
David Sumerauer ◽  
Alena Puchmajerova ◽  
Ales Vicha ◽  
Ondrej Hrusak ◽  
...  
Keyword(s):  
Case Report ◽  
Fanconi Anemia ◽  
Brca2 Mutations

A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature

2007 ◽  
Vol 179 (2) ◽  
pp. 89-92 ◽  
Author(s):  
Pavandeep Ghataorhe ◽  
Allison W. Kurian ◽  
Angela Pickart ◽  
Pamela Trapane ◽  
Jeffrey A. Norton ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Brca2 Mutations

Misophonia: An Evidence-Based Case Report

2020 ◽  
Vol 29 (4) ◽  
pp. 685-690
Author(s):  
C. S. Vanaja ◽  
Miriam Soni Abigail
Keyword(s):  
Quality Of Life ◽  
Case Report ◽  
Case History ◽  
Pure Tone ◽  
Physiological Responses ◽  
Evidence Based ◽  
Management Option ◽  
Pure Tone Audiogram

Purpose Misophonia is a sound tolerance disorder condition in certain sounds that trigger intense emotional or physiological responses. While some persons may experience misophonia, a few patients suffer from misophonia. However, there is a dearth of literature on audiological assessment and management of persons with misophonia. The purpose of this report is to discuss the assessment of misophonia and highlight the management option that helped a patient with misophonia. Method A case study of a 26-year-old woman with the complaint of decreased tolerance to specific sounds affecting quality of life is reported. Audiological assessment differentiated misophonia from hyperacusis. Management included retraining counseling as well as desensitization and habituation therapy based on the principles described by P. J. Jastreboff and Jastreboff (2014). A misophonia questionnaire was administered at regular intervals to monitor the effectiveness of therapy. Results A detailed case history and audiological evaluations including pure-tone audiogram and Johnson Hyperacusis Index revealed the presence of misophonia. The patient benefitted from intervention, and the scores of the misophonia questionnaire indicated a decrease in the severity of the problem. Conclusions It is important to differentially diagnose misophonia and hyperacusis in persons with sound tolerance disorders. Retraining counseling as well as desensitization and habituation therapy can help patients who suffer from misophonia.

Intensive Stuttering Therapy With Telepractice Follow-up: A Case Study

2011 ◽  
Vol 21 (1) ◽  
pp. 11-21 ◽  
Author(s):  
Farzan Irani ◽  
Rodney Gabel
Keyword(s):  
Case Report ◽  
Therapeutic Intervention ◽  
Intensive Therapy ◽  
Positive Outcome ◽  
Eclectic Approach

This case report describes the positive outcome of a therapeutic intervention that integrated an intensive, residential component with follow-up telepractice for a 21 year old male who stutters. This therapy utilized an eclectic approach to intensive therapy in conjunction with a 12-month follow-up via video telepractice. The results indicated that the client benefited from the program as demonstrated by a reduction in percent stuttered syllables, a reduction in stuttering severity, and a change in attitudes and feelings related to stuttering and speaking.

A Tape-Recorded Therapy Method for Stutterers: A Case Report

1970 ◽  
Vol 35 (2) ◽  
pp. 188-193 ◽  
Author(s):  
Maryann Peins ◽  
Bernard S. Lee ◽  
W. Edward McGough
Keyword(s):  
Case Report

The Use of Real-Time Visual Displays of Speech in the Training of a Profoundly Deaf, Nonspeaking Child: A Case Report

1971 ◽  
Vol 36 (3) ◽  
pp. 397-409 ◽  
Author(s):  
Rachel E. Stark
Keyword(s):  
Case Report ◽  
Real Time ◽  
Speech Production ◽  
Behavior Problem ◽  
Deaf Children ◽  
Developmental Sequence ◽  
Visual Displays ◽  
Individual Instruction ◽  
Academic Record ◽  
Extract Information

Real-time amplitude contour and spectral displays were used in teaching speech production skills to a profoundly deaf, nonspeaking boy. This child had a visual attention problem, a behavior problem, and a poor academic record. In individual instruction, he was first taught to produce features of speech, for example, friction, nasal, and stop, which are present in vocalizations of 6- to 9-month-old infants, and then to combine these features in syllables and words. He made progress in speech, although sign language and finger spelling were taught at the same time. Speech production skills were retained after instruction was terminated. The results suggest that deaf children are able to extract information about the features of speech from visual displays, and that a developmental sequence should be followed as far as possible in teaching speech production skills to them.

Erratum: Recurrent Laryngeal Nerve Dissection

1980 ◽  
Vol 45 (3) ◽  
Author(s):  
Frank B. Wilson ◽  
D. J. Oldring ◽  
Kathleen Mueller
Keyword(s):  
Case Report ◽  
Recurrent Laryngeal Nerve ◽  
Laryngeal Nerve ◽  
Long Period ◽  
Initial Surgery

On page 112 of the report by Wilson, Oldring, and Mueller ("Recurrent Laryngeal Nerve Dissection: A Case Report Involving Return of Spastic Dysphonia after Initial Surgery," pp. 112-118), the paraphrase from Cooper (1971), "if the patients are carefully selected and are willing to remain in therapy for a long period of time," was inadvertantly put in quotation marks.

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