Congenital hypothyroidism (CH) is one of the most common hereditary disorders affecting neonates worldwide. CH is a multifactorial complex disorder and can be caused by either environmental factors or genetic factors. We studied one Pakistani family with segregating mutations in CH inherited in an autosomal recessive manner. Using whole-exome sequencing (WES), we found a novel homozygous missense variant (c.2315A>G; p.Tyr772Cys) in the thyroid peroxidase (TPO) gene. Different bioinformatics prediction tools and Sanger sequencing were performed to verify the identified variant. Our findings highlight the importance of this gene in causing CH and mild-intellectual disability (ID) in two affected brothers. WES is a convenient and useful tool for the clinical diagnosis of CH and other associated disorders.
Objective: To assess balance function in patients with radiologically confirmed otosclerosis. Methods: Sixteen patients (14 females and 2 males), who attended the Neuro-Otology clinic/ ENT clinics at the Royal National Throat Nose and Ear Hospital, participated in this study. After general medical, audiological and Neuro-Otological examination, patients underwent the caloric and rotational testing. Results: Thirteen of the 16 patients had radiologically confirmed otosclerosis (12 females and 1 male). A total of 3 patients (2 females and 1 male) did not have CT confirmation of otosclerosis, and therefore, were excluded from the study. The remaining 13 patients' data were analyzed. Nine patients had a mixed hearing impairment at least on one side, while eight patients had a bilateral mixed hearing loss and one patient had a sensorineural hearing loss on one side. Four patients had a bilateral sensorineural hearing loss. Only 1 patient had a canal paresis (CP) at 35 %. None of the patients had any significant directional preponderance (DP). The patient with significant CP (35%) did not show any rotational asymmetry on impulsive rotation. Eleven patients had a rotational chair test. Only one patient had a significant asymmetry to the right at 25.30% (normal range is <20%). Overall, 18% (n = 2) of the radiologically confirmed otosclerosis patients showed an abnormal balance test, including both caloric and rotational tests. More than 80% (n = 9) of the patients with radiological otosclerosis showed balance symptoms. Conclusions: the current study indicates a high prevalence of balance symptoms (n = 9 or 82%) in patients with radiological otosclerosis, although only a small proportion (n = 2 or 18%) showed an abnormal vestibular function on caloric and impulse rotation testing. However, due to a small number of samples, further validation of this result is warranted.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.