Overview of Hearing Impairment in Barakat Syndrome | Chapter 12 | Medical Science: Trends and Innovations Vol. 2

Barakat syndrome, also known as HDR (Hypoparathyroidism, Deafness, Renal disease) syndrome, is a rare, clinically heterogeneous, genetic condition characterized by the triad of hypoparathyroidism, sensorineural hearing loss, and renal disease. It is most frequently associated with a mutation in the gene coding for the GATA3 transcription factor on chromosome 10p14. Hearing loss is the most prevalent manifestation of the syndrome, affecting 96% of reported cases. Universal newborn hearing screening has allowed for the early detection of sensorineural hearing loss, which is usually bilateral, ranges from mild to profound, and is more pronounced at higher frequencies. The GATA3 mutation has been found to alter the proper functioning of all cochlear cells, leading to hearing loss. The implementation of next-generation sequencing panels that include GATA3 in the workup of isolated hearing loss has allowed for early detection of the syndrome. Hearing treatment should be initiated as early as possible to allow for optimal speech, social skills, and language development. In this chapter, we discuss the characteristics, genetics, and management of the sensorineural hearing loss associated with Barakat syndrome.

 

Author (s) Details

 

Habib Zalzal
Department of Otolaryngology, Children’s National Medical Center, Washington, DC, USA.

 

Ibrahim Ibrahim
Georgetown University School of Medicine, Washington, DC, USA.

 

Amin J Barakat
Department of Pediatrics, Georgetown University Medical Center, Washington, DC, USA.

 

 

Please see the book here:- https://doi.org/10.9734/bpi/msti/v2/4003

Report of an Indian Family with Heimler’s Syndrome in 2007 as Fifth Case in World Literature: Augmenting the Clinical and Genetic Spectrum | Chapter 13 | New Visions in Medicine and Medical Science Vol. 2

 The present study reports, an Indian family with Heimler’s syndrome in 2007 as fifth case in world literature. Ectodermal dysplasia is a term used to describe a number of conditions that are present at or shortly after birth in which two or more of the bodies ectodermal structures (example: hair, teeth, nails, sweat glands) fail to develop or grow properly. Hearing loss due to genetic causes has a reported prevalence of 1 in 1000 births Among these 15- 30% are associated with other abnormalities, although a small number are associated with oro dental disorders. Thirty percent (30%) of all genetic reasons are related to syndromic hearing loss. More than 500 disorders have been linked to deafness. We reported a pair of siblings along with their father who exhibited. findings similar to those described in Heimler’s syndrome namely sensorineural hearing loss, amelogenesis imperfecta and nail abnormalities. Our findings support the theory of autosomal dominant inheritance. To our knowledge, there had been only four case reports of Heimler’s syndrome from 1991 to 2007. Our report of an Indian family with Heimler’s syndrome was the 5th case in World literature. Next-generation sequencing is important for the diagnosis of Heimler’s Syndrome in order to expand the clinical and genetic spectrum, as this provides additional insights into genotype–phenotype correlations, which is vital for accurate clinical practice, genetic counseling, and pathogenetic studies.

Author(s) Details:

Anjana A. Mohite,
Department of Otolaryngology, Dr. D Y Patil Medical College, Hospital and Research Institute, D Y Patil (Deemed to be University), Kolhapur, Maharashtra, India.

Nilesh D. Patil,
Department of Dentistry Dr. D Y Patil Medical College, Hospital and Research Institute, D Y Patil (Deemed to be University), Kolhapur, Maharashtra, India.

Ranjit V. Ranade,
Department of Dermatology, Dr. D Y Patil Medical College, Hospital and Research Institute, D Y Patil (Deemed to be University), Kolhapur, Maharashtra, India.

Please see the link here: https://stm.bookpi.org/NVMMS-V2/article/view/13808

Investigating the Influence of Sound Deprivation on Audiologic Outcomes after Cochlear Implantation| Chapter 1 | Current Topics in Medicine and Medical Research Vol. 6

 

The cochlear implant is a prosthesis that is capable of restoring hearing function in sensorineural hearing loss patients. Among post-lingual deafened adults, with different periods of sound deprivation, and associated with social isolation, we analysed surgical and audio logic outcomes.  The occurrence of vertigo or tinnitus during pre- and post-operative periods and the result of speech therapy. A retrospective research was carried out on patients aged over 18 years with post-lingual hearing loss who underwent cochlear implant surgery at our institution from 2004 to 2014. Two classes were analysed. Group A consisted of 38 respondents (14 male and 24 female) with tone.  Deprivation of less than 10 years; and group B consisted of 17 participants with sound deprivation of more than 10 years (8 male and 9 female). We found no differences with respect to age , sex, Sound deprivation length, mean audiometric pure-tone results (pre- and post-surgery), and measures of speech perception (pre-operatively). A substantial difference between the two groups was found after one year of surgery, with better results compared to group A. The effects of speech  The vision test was weaker than the findings obtained in group A following cochlear implantation in group B, but these associations do not decide whether or not cochlear implant surgery should be performed.

Author (s) Details

Maria Stella A. Amaral
Department of Ophthalmology, Otorhinolaryngology, Head and Neck Surgery, Ribeirão Preto Medical School, University of São Paulo (FMRP-USP), Ribeirão Preto, São Paulo, Brazil.

Ana C. M. B. Reis
Department of Ophthalmology, Otorhinolaryngology, Head and Neck Surgery, Ribeirão Preto Medical School, University of São Paulo (FMRP-USP), Ribeirão Preto, São Paulo, Brazil.

Henrique F. Pauna
Department of Ophthalmology, Otorhinolaryngology, Head and Neck Surgery, Ribeirão Preto Medical School, University of São Paulo (FMRP-USP), Ribeirão Preto, São Paulo, Brazil.

Sarah C. Bernal
Department of Ophthalmology, Otorhinolaryngology, Head and Neck Surgery, Ribeirão Preto Medical School, University of São Paulo (FMRP-USP), Ribeirão Preto, São Paulo, Brazil.

Eduardo T. Massuda
Department of Ophthalmology, Otorhinolaryngology, Head and Neck Surgery, Ribeirão Preto Medical School, University of São Paulo (FMRP-USP), Ribeirão Preto, São Paulo, Brazil.

Miguel A. Hyppolito
Department of Ophthalmology, Otorhinolaryngology, Head and Neck Surgery, Ribeirão Preto Medical School, University of São Paulo (FMRP-USP), Ribeirão Preto, São Paulo, Brazil.

 

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