Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.

Mutation in the gene encoding microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome 2 (WS2), an autosomal dominantly inherited syndrome with auditory-pigmentary abnormalities, which is clinically and genetically heterogeneous. Haploinsufficiency may be the underlying mechanism for WS2. However, the mechanisms explaining the genotypic and phenotypic variations in WS2 caused by MITF mutations are unclear.

Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.

Waardenburg syndrome (WS) is an autosomal dominant inherited non-syndromic type of hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. WS is classified into four subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms.

Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV.

Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the abovementioned causative genes.

Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss.

Hearing impairment, or deafness (in its most severe form), is one of the most common human sensory disorders. There have been several reports of autosomal dominant mutations in the POU4F3 gene, which is associated with non-syndromic hearing loss. In this study, we identified a novel heterozygous mutation (c.

[Screening and identification interaction proteins of connexin 30].

Objective: To explore interaction proteins affect functions of connexin 30 (Cx30) by screening and identification interaction proteins of Cx30.

Methods: The fusion expression vecto of CX30-C-terminal functional domain-pGEX-4T-2-GST was constructed, and then, fusion protein and GST were purified. They were incubated with the proteins of the foetus brain tissue disruption to pull down interaction proteins.

[Evaluation test and masking therapy of subjective tinnitus].

Objective: To undergo tinnitus evaluation test and masking therapy of subject tinnitus associated with sensorineural hearing loss as a reference for diagnosis and guiding masking therapy.

Methods: The 66 patients with subject tinnitus were diagnosed as sensorineural hearing loss. Sixty-six patients divide into three groups according to the results of pure tone audiometry, including steep drop type in 28 patients, slow drop type in 20 patients, and flat type in 18 patients.

[Surgery of ventilation tube insertion in the middle ear and the external auditory canal for chronic secretory otitis media in children].

Objective: To study the therapeutic effect of ventilation tube insertion in the middle ear and the external auditory canal on chronic secretory otitis media in children.

Methods: A retrospective study on 30 patients (40 ears) with chronic secretory otitis media and who underwent the operation of middle ear exploration and ventilation tube insertion in the middle ear and the external auditory canal was performed. Poor tympanic membrane, even with adhesion, was seen in 23 ears.

Low-dose carvedilol reduces transmural heterogeneity of ventricular repolarization in congestive heart failure.

Aim: To study the effects of carvedilol on the transmural heterogeneity of ventricular repolarization in rabbits with congestive heart failure (CHF).

Methods: Rabbits were randomly divided into 3 groups: control, CHF and carvedilol treated CHF group. Monophasic action potential duration (MAPD) in the 3 myocardial layers was simultaneously recorded.

Effect of benazepril on heart rate turbulence in patients with dilated cardiomyopathy.

1. Heart rate (HR) turbulence describes short-term sinus rhythmic fluctuation after a single premature ventricular beat. Turbulence onset (TO) and turbulence slope (TS) are two essential parameters in HR turbulence.