scholarly journals 5-α Reductase Deficiency in Two Siblings: A Case Report

2016 ◽  
Vol 7 (7) ◽  
pp. 263-265
Author(s):  
Ivana Capin ◽  
Mary Ryan
Keyword(s):  
Case Report ◽  
Reductase Deficiency

scholarly journals Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report

2012 ◽  
pp. 53-56 ◽  
Author(s):  
Curtis R. Coughlin ◽  
Keith Hyland ◽  
Rebecca Randall ◽  
Can Ficicioglu
Keyword(s):  
Case Report ◽  
Dihydropteridine Reductase ◽  
Reductase Deficiency

scholarly journals 5-alpha-reductase deficiency: a case report

2016 ◽  
Vol 43 (6) ◽  
pp. 234 ◽  
Author(s):  
Diana Mettadewi Jong ◽  
Aman B Pulungan ◽  
Bambang Tridjaja AAP ◽  
Jose RL Batubara
Keyword(s):  
Case Report ◽  
Male Pseudohermaphroditism ◽  
Reductase Deficiency

The condition of 5-alpha-reductase type 2deficiency (5-ARD) is an inherited disorderresulting in the inability to converttestosterone to dihydrotestosterone(DHT).This disorder was previously termed asfamilial incomplete male pseudohermaphroditism type2, pseudovaginal perineoscrotal hypospadias.Clinical manifestation of 5-ARD is limited to malegenetic. The affected males are usually identifiedas female in childhood but undergo striking virilizationat puberty.While overall incidence for various countries arenot established, increased incidence is reported in theDominican Republic, some highland tribes in NewGuinea, Lebanon and Turkey. This was the firstdocumented case in Cipto Mangunkusumo (CM)Hospital.

scholarly journals Hereditary methaemoglobinaemia due to Cytochrome b-5 reductase deficiency—A case report

1997 ◽  
Vol 12 (2) ◽  
pp. 146-147
Author(s):  
U. K. Saha ◽  
I. Chakraborty ◽  
S. Ghosh ◽  
P. Banerjee ◽  
A. K. Chakrabarti
Keyword(s):  
Case Report ◽  
Cytochrome B ◽  
Reductase Deficiency

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
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