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Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
TLDR
Evaluation of reported pathogenic deafness variants using variant MAFs from multiple distinct ethnicities and sequenced by orthogonal methods provides a powerful filter for determining pathogenicity, and proposed MAF thresholds will facilitate clinical interpretation of variants identified in genetic testing for NSHL.
Variations of sphenoid and related structures
Abstract. The aim of this study was to delineate the precise relationship between the sphenoid sinus and internal carotid artery and the optic nerve, as well as to assess incidence of the anatomic
An Overview of Hereditary Hearing Loss
TLDR
In this review, after a brief explanation of some genetic terms, classification of genetic hearing loss (syndromic versus nonsyNDromic, and recessive dominant, X-linked and mitochondrial) was performed.
Hydatid cyst of the thyroid gland in a child.
TLDR
An additional case of hydatid cyst of the thyroid gland that occurred in a 9-year-old boy who admitted with a painless and cystic thyroid mass is reported.
Percutaneous nephrolithotomy in the management of pediatric renal calculi.
TLDR
Pediatric urolithiasis is usually a result of metabolic abnormalities and urinary tract infection, and there is always a risk of recurrence that may necessitate multiple additional intervention, so PCNL must be considered in selected cases by urologists who are experienced in adult percutaneous procedures.
An Analysis of the Single-Stage Tympanoplasty With Over–Underlay Grafting in Tympanosclerosis
TLDR
Second-stage surgery for stapedectomy and placement of a prosthesis-like piston or total ossicular replacement prosthesis should be considered to obtain better hearing results in tympanosclerosis.
Significance of serotonin transporter gene polymorphism in migraine
TLDR
While the presence of STin 2.10 allele increases the risk of migraine, 5-HTTLPR polymorphism is not associated with this risk.
Impact of prognostic factors on recovery from sudden hearing loss
TLDR
The outcome of sudden hearing loss was unaffected by systemic disease, tinnitus or type of audiogram (except for midfrequency type), and the following were poor prognostic factors: female gender, presence of vertigo, initiation of treatment more than seven days after onset of hearing loss, and >40 dB hearing loss on admission.
Bone Cement Ossiculoplasty: Incus to Stapes Versus Malleus to Stapes Cement Bridge
TLDR
Bone cement ossiculoplasty offers cost effective and significant improvement in conductive hearing loss in patients with chronic otitis media.
Gross dehiscence of the bone covering the facial nerve in the light of otological surgery
TLDR
The likelihood of dehiscent bone covering the tympanic segment of the fallopian canal is significantly higher in cholesteatoma than the other chronic ear diseases, so the surgeon can feel somewhat more confident while performing surgery for tympanosclerosis.
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