scholarly journals Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report

2021 ◽  
Vol 0 (0) ◽  
pp. 0-0
Author(s):  
Haibo Li ◽  
Aman Zhao ◽  
Min Xie ◽  
Linqi Chen ◽  
Haiying Wu ◽  
...  
Keyword(s):  
Case Report ◽  
P450 Oxidoreductase ◽  
Compound Heterozygotes

scholarly journals P94 Cytochrome P450 oxidoreductase enzyme deficiency: a case report

2019 ◽  
Author(s):  
İlker Tolga Özgen ◽  
Esra Kutlu ◽  
Hatice Nursoy ◽  
Yaşar Cesur ◽  
Gözde Yeşil
Keyword(s):  
Cytochrome P450 ◽  
Case Report ◽  
Enzyme Deficiency ◽  
P450 Oxidoreductase ◽  
Cytochrome P450 Oxidoreductase

scholarly journals Compound heterozygosity for hemoglobin variant Hb-Broomhill and the Southeast Asian α-thalassemia deletion does not worsen outcome: a case report of two unrelated patients

2020 ◽  
Vol 48 (11) ◽  
pp. 030006052096782
Author(s):  
Danqing Qin ◽  
Li Du ◽  
Jicheng Wang ◽  
Cuize Yao ◽  
Hao Guo ◽  
...  
Keyword(s):  
Case Report ◽  
Sanger Sequencing ◽  
Southeast Asian ◽  
Compound Heterozygosity ◽  
Hemoglobin Variant ◽  
Laboratory Findings ◽  
Suspension Array ◽  
Hba1 C ◽  
Hb Variant ◽  
Compound Heterozygotes

We report two unrelated cases of compound heterozygosity for hemoglobin (Hb) variant Broomhill and the Southeast Asian (- - SEA/) α-thalassemia deletion, whose clinical features and laboratory findings have never been reported. Hematological analyses revealed abnormal values for both cases as α-thalassemia traits, and capillary electrophoresis suggested an abnormal peak that was incompletely separated from the Hb A peak. A suspension array system and Sanger sequencing were used to characterize the genotypes. Sanger sequencing confirmed the presence of Hb Broomhill [α114(GH2)Pro→Ala; HBA1: c.343C>G]. Eventually, both cases were accurately diagnosed as compound heterozygotes for Hb Broomhill and the (- - SEA/) α-thalassemia deletion, which is the first known report of these variants. This information will be useful when providing appropriate genetic counselling and prenatal diagnosis.

scholarly journals Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Joana Rita Chora ◽  
Helena Simões-Teixeira ◽  
Tiago Daniel Matos ◽  
Jorge Humberto Martins ◽  
Marisa Alves ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Characterization ◽  
Gjb2 Gene ◽  
Oral Performance ◽  
Dizygotic Twins ◽  
Language Tests ◽  
Profound Deafness ◽  
35Delg Mutation ◽  
Compound Heterozygotes

Individual’s hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment. Here we report the case of dizygotic twins, boy and girl, presenting with neurosensorial profound deafness prior CI (age of implantation = 3.5 years old). Both parents have severe/profound deafness, since childhood, and use sign language as primary mode of communication. Clinical and genetic characterization was performed, as well as the assessment of the auditory and oral (re)habilitation after CI, applying a battery of audiological, speech, and language tests. The twin girl and the father were homozygous for the c.35delG mutation in the GJB2 gene, while the twin boy and the mother were compound heterozygotes, both monoallelic for c.35delG and for the deletion del(GJB6-D13S1830) in theGJB6gene. The remaining hearing impaired relatives were c.35delG homozygotes. The genetic cause of deafness was thus identified in this family. Some noteworthy differences were observed regarding twins’ auditory and oral performance after CI. Subsequent follow-up of these children allowed us to conclude that those differences were most likely due to the different environment in which the twins have been living than to their differentGJB2/GJB6genotypes.

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.

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