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阻塞性睡眠呼吸暂停低通气综合征（OSAHS）是影响人类健康的重要慢性疾病，与心脑血管损害等多器官损伤密切相关，受到了越来越多的关注。目前越来越多的研究发现了OSAHS存在以血脂谱为代表的多种生物标志物，且OSAHS和相关生物标志物联系紧密。因此探讨OSAHS和生物标志物的复杂关系，有助于加深对OSAHS疾病的认识，洞察OSAHS临床研究所面临的挑战。.

The pathophysiology underlying spiral ganglion cell defect–induced deafness remains elusive. Using the whole exome sequencing approach, in combination with functional assays and a mouse disease model, we identified the potentially novel deafness-causative MAP1B gene encoding a highly conserved microtubule-associated protein. Three novel heterozygous MAP1B mutations (c.4198A>G, p.1400S>G; c.2768T>C, p.923I>T; c.5512T>C, p.1838F>L) were cosegregated with autosomal dominant inheritance of nonsyndromic sensorineural hearing loss in 3 unrelated Chinese families. Here, we show that MAP1B is highly expressed in the spiral ganglion neurons in the mouse cochlea. Using otic sensory neuron–like cells, generated by pluripotent stem cells from patients carrying the MAP1B mutation and control subject, we demonstrated that the p.1400S>G mutation caused the reduced levels and deficient phosphorylation of MAP1B, which are involved in the microtubule stability and dynamics. Strikingly, otic sensory neuron–like cells exhibited disturbed dynamics of microtubules, axonal elongation, and defects in electrophysiological properties. Dysfunctions of these derived otic sensory neuron–like cells were rescued by genetically correcting MAP1B mutation using CRISPR/Cas9 technology. Involvement of MAP1B in hearing was confirmed by audiometric evaluation of Map1b heterozygous KO mice. These mutant mice displayed late-onset progressive sensorineural hearing loss that was more pronounced in the high frequencies. The spiral ganglion neurons isolated from Map1b mutant mice exhibited the deficient phosphorylation and disturbed dynamics of microtubules. Map1b deficiency yielded defects in the morphology and electrophysiology of spiral ganglion neurons, but it did not affect the morphologies of cochlea in mice. Therefore, our data demonstrate that dysfunctions of spiral ganglion neurons induced by MAP1B deficiency caused hearing loss., Dysfunctions of spiral ganglion neurons caused by Map1b deficiency leads to sensorineural hearing loss.

Estibular migraineis a common disease with symptoms of vertigo and migraine，which is the most common type of recurrent vertigo. The overall prevalence rate of the population is up to 1%. However, owing to its diversity of symptoms, large individual differences, the scarcity of professional clinical knowledge and the lack of effective diagnostic means, the rate of misdiagnosis is very high. Therefore, this article summarized the parts of clinical manifestations, pathogenesis, diagnostic criteria, treatment and prevention of vestibular migraine.

Obstructive sleep apnea hypopnea syndrome (OSAHS) is a chronic disorder characterized by repetitive apneas, oxygen desaturation and disruption during sleep. The main clinical manifestations of OSAHS are snores, intermittent hypoxia, morning headache, excessive daytime sleepiness, tired and memory descent. OSAHS affects 3%-20% of the general population. Although commonly accepted as the gold standard for diagnosis of OSAHS, PSG is thought to be time-consuming, labor-intensive, costly and uncomfortable. Evidence from epidemiology indicated that 93% of women and 82% of men with moderate to severe OSAHS have not been clinically diagnosed. An epidemiological survey in Shanghai, China, showed that more than 85% of OSAHS was undiagnosed. Studies showed that undiagnosed OSAHS is independently associated with the increased likelihood of hypertension, cardiovascular diseases, stroke, daytime sleepiness, motor vehicle accidents, and diminished quality of life. Thus, researchers have attempted to develop a simple and effective tool to screen patients with OSAHS, which has been reviewed and summarized in our article.

The genetic correction of induced pluripotent stem cells (iPSCs) induced from somatic cells of patients with sensorineural hearing loss (caused by hereditary factors) is a promising method for its treatment. The correction of gene mutations in iPSCs could restore the normal function of cells and provide a rich source of cells for transplantation. In the present study, iPSCs were generated from a deaf patient with compound heterozygous MYO7A mutations (c.1184G>A and c.4118C>T; P-iPSCs), the asymptomatic father of the patient (MYO7A c.1184G>A mutation; CF-iPSCs), and a normal donor (MYO7AWT/WT; C-iPSCs). One of MYO7A mutation sites (c.4118C>T) in the P-iPSCs was corrected using CRISPR/Cas9. The corrected iPSCs (CP-iPSCs) retained cell pluripotency and normal karyotypes. Hair cell-like cells induced from CP-iPSCs showed restored organization of stereocilia-like protrusions; moreover, the electrophysiological function of these cells was similar to that of cells induced from C-iPSCs and CF-iPSCs. These results might facilitate the development of iPSC-based gene therapy for genetic disorders. Significance Induced pluripotent stem cells (iPSCs) were generated from a deaf patient with compound heterozygous MYO7A mutations (c.1184G>A and c.4118C>T). One of the MYO7A mutation sites (c.4118C>T) in the iPSCs was corrected using CRISPR/Cas9. The genetic correction of MYO7A mutation resulted in morphologic and functional recovery of hair cell-like cells derived from iPSCs. These findings confirm the hypothesis that MYO7A plays an important role in the assembly of stereocilia into stereociliary bundles. Thus, the present study might provide further insight into the pathogenesis of sensorineural hearing loss and facilitate the development of therapeutic strategies against monogenic disease through the genetic repair of patient-specific iPSCs.

Objective:We report the case of a successful cochlear implantation in a patient with severe cochlear hypoplasia.Case report:The outcome of cochlear implantation is generally less favourable for patients with cochlear hypoplasia than for those with a normal cochlear structure. In the reported patient, part of the electrode array was inserted into the internal auditory canal. Nevertheless, the benefits following cochlear implantation seemed to outweigh the risks for this patient.Conclusion:Cochlear hypoplasia is not necessarily a contraindication for cochlear implantation.

Forty healthy youth, 20 aged Chinese volunteers and 400 dizzy patients were tested with SHAT at frequencies of 0.01-0.64Hz. The peak velocity was 50 degrees/s. The commonly used three parameters: phase, gain, asymmetry were calculated by computer. Alertness tests in the darkness demonstrated a gain increase and a decrease of phase lead with increasing frequency. The bilateral responses were symmetrical in normal volunteers. The asymmetry value was in the limit of 5 degrees. The values of all the parameters made no sexual difference. The phase value with 0.01Hz in the aged volunteers was a little smaller than that in the younger volunteers. An abnormal result was found in 204 patients (51%). Phase lag decreases were the most common abnormal results. Both patients with Meniere's disease and with central disorders revealed phase lag decreases. However, patients with central lesions showed decreases of phase lag in more frequencies. Direction of asymmetry in patients with central lesion was in good correlation with the side of lesions. The five common types of abnormality were reported in the present paper, they were vestibular habituation and asymmetry, vestibular habituation, vestibular asymmetry in higher frequencies, vestibular deficit and vestibular hyperreactivity.

The paper describes methods for extracting unknown state variables and parameters from dynamic rotor model tests given transient cyclic pitch stirring inputs, blade root flap-bending measurements, and the form of the dynamic rotor equations, including a rotor dynamic inflow description, when none of the physical parameters are known. A simplified version of the maximum likelihood method seems best suited for this purpose. The measurement equation error covariance matrix is assumed constant during each iteration, but updated for the subsequent iteration. A detailed analysis of the suitability of the derived techniques for studying various rotor dynamic inflow effects is provided.

An analysis of coupled torsion-flapping rotor blade vibrations in response to atmospheric turbulence revealed that at high rotor advance ratios anticipated for future high speed pure or convertible rotorcraft both flapping and torsional vibrations can be severe. While appropriate feedback systems can alleviate flapping, they have little effect on torsion. Dynamic stability margins have also no substantial influence on dynamic torsion loads. The only effective means found to alleviate turbulence caused torsional vibrations and loads at high advance ratio was a substantial torsional stiffness margin with respect to local static torsional divergence of the retreating blade.