[Audiological and genetic studies on 130 infants with hearing loss].

Objective: To investigate the genetic etiologies in the 0- 3-years-old infants with hearing loss and to analyze the interaction between genetics and environmental factors.

Methods: Total of 130 infants were performed detailed audiological evaluation as well as the detection of the popular deafness gene mutations in GJB2 gene, SLC26A4 and mtDNA12SrRNA. Of them, 84 cases were performed the computer tomography or magnetic resonance imaging examinations.

Construction and experimental application of a highly efficient temperature-selection T-vector.

T-A cloning is the most commonly used molecular cloning technique in which T-vector is the core tool. T-vectors commonly used now are blue-white positive-selection vectors based on mechanism of alpha-complement of beta-galactose of Escherichia coli. Disadvantages of these traditional T-vectors in application include insufficient positive rate and the existence of false-positive clones, which, especially the latter, makes screening of transformant clones via colony PCR necessary.

[Audiological characteristics of young children with otitis media with effusion].

Objective: To characterize the audiological features in the infants with otitis media with effusion (OME) and to investigate the utility of variety of objective audiometry methods in diagnosis and intervention on OME.

Methods: Fifty six infants (40 males and 16 females) were investigated, who were referred to our clinic at the General Hospital of Chinese People's Liberation Army by the other hospitals from December 2004 to June 2007 when the infants were diagnosed or highly suspected of OME. The ages at the initial diagnosis ranged from 42 days to three years, with an average of five months.

The large Chinese family with Y-linked hearing loss revisited: clinical investigation.

Conclusion: The DFNY1 phenotypes shared many characteristics with some autosomal dominant hearing loss, in the aspects of age of onset, severity and audiometric configuration. However, the typical, outstanding feature of this trait was its remarkable pattern of inheritance. Similar traits, if ever encountered, can be most easily identified by discerning this exceptional and rare pattern of inheritance.

[Correlation between phonetically balanced maximum and pure tone auditory threshold among 106 auditory neuropathy patients].

Objective: To estimate correlation between phonetically balanced maximum (PB max) and pure tone auditory threshold in auditory neuropathy (AN) patients.

Methods: One hundred and six AN patients were identified using multiple criteria including PB max, a metric for speech recognition, pure tone auditory threshold, acoustic emission test, distortion products otoacoustic emission (DPOAE) and auditory brainstem response (ABR). SPSS statistical software was used to estimate the Pearson's correlation between PB max and pure tone auditory threshold and to test whether pure tone auditory threshold, or auditory configuration had a significant impact on PB max.

[Studies of the strategy for newborn gene screening].

Objective: To discuss and analyze the feasibility and strategy for perform the newborn gene screening in the process of newborn hearing screening in order to supply the defects or limitation in the hearing screening.

Methods: Four hundreds and sixty newborn babies from December 2006 to April 2007 accepted the simultaneous hearing and gene screening. Otoacoustic emission (OAE) was used for the first step hearing screening and OAE combined with auto auditory brainstem response (AABR) detection for the second step screening.

GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.

Conclusion: This genetic epidemiological study demonstrated that 26.65% of the prelingual deafness in Northern Chinese patients can be detected at younger ages by genetic testing of three common hearing loss genes (GJB2, SLC26A4 and mtDNA A1555G), and thus, early intervention measures could be undertaken to help them in language acquisition.

Objectives: The GJB2, SLC26A4 and mtDNA A1555G mutations are the prevalent causes of prelingual deafness worldwide.

[Mitochondrial DNA A1555G mutation analysis in 802 nonsyndromic hearing impairment patients].

Objective: To investigate the prevalence of the mitochondrial DNA (mtDNA) A1555G mutation in nonsyndromic hearing impairment (NSHI) patients from Gansu province.

Methods: Subjects included 802 students selected from five Deaf-Mute Schools in Gansu. DNA was extracted from peripheral blood of all patients.

Clonogenic multiple myeloma progenitors, stem cell properties, and drug resistance.

Many agents are active in multiple myeloma, but the majority of patients relapse. This clinical pattern suggests most cancer cells are eliminated, but cells with the clonogenic potential to mediate tumor regrowth are relatively chemoresistant. Our previous data suggested that CD138(+) multiple myeloma plasma cells cannot undergo long-term proliferation but rather arise from clonogenic CD138(neg) B cells.

[Prenatal diagnosis for hereditary deaf families assisted by genetic testing].

Objective: To provide prenatal diagnosis for deaf families, which the first child was confirmed to be hereditary deafness caused by gap junction beta-2 (GJB2) or SLC26A4 (PDS) mutation, to avoid another deaf birth in these families.

Methods: Eight deaf families joined in this study. Each family had one child with severe to profound hearing loss while parents had normal hearing except a deaf father from family 8; mothers had been pregnant for 6-28 weeks.

The multiple myeloma associated MMSET gene contributes to cellular adhesion, clonogenic growth, and tumorigenicity.

Multiple myeloma (MM) is an incurable hematologic malignancy characterized by recurrent chromosomal translocations. Patients with t(4;14)(p16;q32) are the worst prognostic subgroup in MM, although the basis for this poor prognosis is unknown. The t(4;14) is unusual in that it involves 2 potential target genes: fibroblast growth factor receptor 3 (FGFR3) and multiple myeloma SET domain (MMSET).

[Gene mapping for autosomal dominant nonsyndromic hearing loss DFNA11].

Objective: To map the gene locus in a Chinese pedigree with autosomal dominant nonsyndromic hearing loss.

Methods: A genome wide screening was performed with 394 microsatellite markers distributed with an average spacing of 10 cM (ABI Prism Linkage Mapping Set 2, Applied Biosystems, Foster City, CA, U.S.

[The roles of connexin genes in sporadic hearing loss population].

Objective: To investigate the roles of connexin genes in Chinese population.

Methods: Peripheral blood samples were collected from 214 patients with hearing loss, 160 with sensorineural hearing loss (66 with prelingual hearing loss and 94 with postlingual hearing loss), 32 with auditory neuropathy, and 22 with enlarged vestibular aqueduct syndrome (EVAS), 110 males and 104 females, all from 14 provinces north of the Yangtze River, all of Han nationality, and 86 normal controls. PCR and sequencing of the PCR products were used to screen 3 connexin genes: GJB2, GJB3, and GJB6.

[The characteristic of enlarged vestibular aqueducts syndrome in pure tone audiometry: low frequency air-bone gap].

Objective: The purposes of this study was to analyse the significant of low frequency air-bone gap in enlarged vestibular aqueduct (EVA) patients according to the pure tone audiogram and the benefit for clinic diagnosis of the EVA.

Method: The audiology testing include (1) play audiometry or pure tone audiometry, tympanometry, middle ear muscle reflex thresholds and stapedius muscle reflex; (2) High-resolution computed tomography (CT) scan of the temporal bone and magnetic resonance imaging was used for diagnoses the EVA.

Result: All the 78 patients (154 ears) were diagnosed as the typical EVA by CT or MRI.

Hedgehog signaling maintains a tumor stem cell compartment in multiple myeloma.

The cancer stem cell hypothesis suggests that malignant growth depends on a subset of tumor cells with stem cell-like properties of self-renewal. Because hedgehog (Hh) signaling regulates progenitor cell fate in normal development and homeostasis, aberrant pathway activation might be involved in the maintenance of such a population in cancer. Indeed, mutational activation of the Hh pathway is associated with medulloblastoma and basal cell carcinoma; pathway activity is also critical for growth of other tumors lacking such mutations, although the mechanism of pathway activation is poorly understood.

Prophylactic and therapeutic functions of T-type calcium blockers against noise-induced hearing loss.

Cochlear noise injury is the second most frequent cause of sensorineural hearing loss, after aging. Because calcium dysregulation is a widely recognized contributor to noise injury, we examined the potential of calcium channel blockers to reduce noise-induced hearing loss (NIHL) in mice. We focused on two T-type calcium blockers, trimethadione and ethosuximide, which are anti-epileptics approved by the Food and Drug Administration.

[Clinical classification and relationship with conductive deafness of congenital middle ear malformations].

Objective: To investigate the clinical classification and relationship with conductive deafness of congenital middle ear malformations.

Methods: From 1995 to 2004, 64 patients (82 ears) with single congenital middle ear malformations were operated in the ENT department of the General Hospital of Chinese People's Liberation Army. According to the histology and embryology of middle ear and the findings of surgical exploration, the clinical classification was performed.

A novel mutation of POU3F4 causes congenital profound sensorineural hearing loss in a large Chinese family.

Objectives/hypothesis: It is known that approximately 5% of congenital profound hearing impaired cases are inherited in X-linked inheritance. This study aimed at identifying its underlying molecular determinant(s) using a large, five-generation Chinese family with multiple familial cases.

Study Design: Model-based linkage analysis and positional cloning.

Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation.

We report here the clinical, genetic, and molecular characterization of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Five of nine matrilineal relatives had aminoglycoside-induced hearing loss. These matrilineal relatives exhibited variable severity and audiometric configuration of hearing impairment, despite sharing some common features: being bilateral and having sensorineural hearing impairment.

[Application effect of most probable number (MPN) method in photosynthetic bacteria counting].

The application of most probable number (MPN) method in counting the numbers of photosynthetic bacteria (PSB) showed that this method was suitable for PSB counting under illumination and anaerobic condition, which remedied the shortages of other methods. With this method, the sensitivity and accuracy of the counting could be enhanced when more replicated tubes and lower dilution times for fewer bacteria samples were applied. When PSB were not dominant in soil and water, MPN method could be used instead of other methods.

Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss.

We report here the clinical, genetic, and molecular characterization of two Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects. Penetrances of hearing loss in BJ105 and BJ106 pedigrees are 67% and 33%, respectively.

[The research progress in the disease model of knock-out mouse].

The knock-out technology is an effective means in studying the gene function of organism. The disease model of gene knock-out mouse is of significance in understanding the gene function and pathogenesis of human disease. The available models of gene knock-out mouse are classified and summarized to promote the development of related research.