Next-generation sequencing (NGS) technologies have improved as well as the costs have gradually decreased in the detections of genetic diseases. This article describes the principle, platform, and data analysis of NGS and the application of NGS technologies to the molecular diagnosis of hereditary hearing loss (HL). The use of NGS technologies makes the discovery of HL genes more feasible than ever. And the data obtained by NGS used in genetic counseling for clinical practice may assist in defining genetic profiles of HL individuals and expedite the pace of personalized medical care.
Hearing Loss, Sensorineural ; diagnosis ; genetics ; High-Throughput Nucleotide Sequencing ; Humans

Objective To treat arteriosclerosis patients with a simple self-made oxygenation respirator in a re-respiration model. Methods 43 AS patients was enrolled in treatment group(Oxygenation Respirator only) and control group (drug therapy only). Results the efficacy was 92%, better than control group, the efficacy of which was 72%, and P

Regional saturation technique has been applied in MR scaning widely. It is possible to obtain MRA or MRV by putting the REST slab on one side of slice or another. REST eliminates artifacts caused by motion or blood flow and minimizers wrap artifacts along the phase encoding and high quality of images can be provided.

Objective To improve the ventilation mode for respiratory failure based on the self-made respirator. Methods For the conscious COPD patients with type II respiratory failure, nasal mask and NEEP ventilation mode were used. Patients breathe in air through the mouth and breathe out through the noses. There is no need of manual control tube to control the negative pressure in the nasal mask. For the non-typical type I respiratory failure, exhaled gas comes out from the one-way channel in the front of the mask, while oxygen for the next breathes is brought into the ball through the tube under it. Results The COPD patients breathe more freely and smoothly without disturb of the manual control tube. On the non-typical type I respiratory failure, FiO2 is much higher and without breath in CO2. Conclusion The new ventilation mode can provide a great range of FiO2 and get ride of redundant CO2. It's beneficial to the recovery of patients.

Objective To investigate the changes of pulsatile tinnitus on HRCT and MRI CE 3D-SPGR image.Methods CT and MRI images of 1 5 pulsatile tinnitus patients were retrospective analysis.All 1 5 patients underwent temporal bone HRCT and MRI CE 3D-SPGR scan.Abnormal changes on CT and MRI image,which caused the pulsatile tinnitus,were compared.Results In 1 5 patients,9 sides (8 cases)showed abnormal sigmoid sinuses including 4 sides of sigmoid sinuses diverticulum,5 sides sigmoid sinu-ses uncovering,8 sides dominant sigmoid sinuses.The high jugular bulb was showed in 10 sides (8 cases),the thick emissaria mas-toidea in 5 sides (4 cases),bilateral semicircular canal dehiscence in one case,glomus tympanicum tumor in one case and the cochle-ar nerve was constricted by small vessel in one case.Conclusion Cranial base vessel abnormity can be visualized more precisely on MRI CE 3D-SPGR image than that on HRCT.On the contrary,the detection of temporal bone abnormalities is superior on HRCT.

Forty girls with Turner's syndrome (TS),aged (12.6 ± 1.9) years,were treated with daily subcutaneous injection of recombinant human growth hormone (rhGH,1.0 ～ 1.1 IU · kg-1 · w-1) and oral stanozolol (0.02 ～ 0.04 mg · kg-1 · d-1) for 1 ～ 5 years.Growth velocity (GV),height standard deviation score (SDS) by reference of healthy Chinese girls (HtSDSNor) and height SDS by reference of untreated Chinese TS girls (HtSDSTs)were evaluated regularly.Of the forty girls studied,thirteen had discontinued the treatment after a mean duration of (2.9 ± 1.2)years when GV was less than 2 cm/year or when patients were satisfied with the achieved height.Final adult height (FAH) or near-final height,which was defined as the most recent available height after discontinuation of treatment,and the height gained in the thirteen girls were evaluated.Estrogen therapy was started at the age of(16.0 ± 1.1) years.HtSDSNor increased from-4.2 ± 1.0 to-3.4 ± 1.0 in the first year,and-2.8 ± 1.0,-2.4 ± 0.8,-2.5 ± 0.5,-2.3 ±0.3 respectively in the 2nd,3rd,4th,and 5th year.The change in HtSDSTs was similar to HtSDSNor.It was increased from 0.1 ± 0.9 to 1.0 ± 0.9 in the first year,and to 1.5 ± 0.8,1.9 ± 0.6,1.7 ± 0.4,1.7 ± 0.2 in the subsequent 4 years.The predicted adult height (PAH) in 13 girls was (142.8 ± 4.2) cm before treatment.FAH was (151.7 ± 4.1) cm,which was significantly higher than PAH (P＜0.01),and the mean height gain was (8.9 ± 2.8) cm (5.1 ～ 12 cm).FAHSDSNor was increased to-1.6 ± 0.8 from-3.8 ± 0.8.For girls with TS around 9 years of age,combined therapy with rhGH and low dosage of stanazolol may significantly increase growth velocity and improve final adult height.

Objective To explore the relationship between adrenarche and gonadarche.Methods Total 49 idiopathic central precocious puberty(ICPP)girls,whose serum dehydroepiandrosterone sulfate(DHEAS)Z scores for chronological age were higher than+2 s at diagnosis.were enrolled.Physical examinations during pubertal stage were repeated at 3-6 months intervals,and serum DHEAS levels were monitored yearly within an average period of 4.08 years.Of them,16 girls were followed up until more than one year after discontinuation of gonadotropin-releasing hormone analogue(GnRHa)treatment.Results Before GnRHa treatment,these49 girls presented a younger average age at attainment of pubic hair stage2(PH2)and pubic hair stage3(PH3)than normal(8.07 years vs 11.16 years,8.82 years vs 12.40 years respectively).During GnRHa treatment,the intervals between PH2 and PH3,PH3 and pubic hair stage4(PH4),breast stage 2(B2),and PH2 were longer than normal(1.69 years vs 0.83 years,1.64 years vs 0.60 years,and3.62 years vs 0.76 years respectively).The intervals between PH2 and PH3,as well as B2 and PH2 during GnRHa treatment were also longer than that before GnRHa treatment(1.69 years/35 0.88 years,3.62 years vs 1.13 years respectively).The serum DHEAS Z scores decreased during GnRHa treatment,and increased significantly after GnRHa cessation.Conclusion Gonadarche after age of 6-year-old may lead to earlier adrenarehe.GnRHa treatment might slow down the progression of adrenarche and suppress the hypothalamuspituitary-gonadal axis.

Objective To analyze the pattern of early catch-up growth In children with prepubertal short stature and various secretory forms of growth hormone(GH)following recombinant human growth hormone (rhGH)treatment and to explore the mechanism. Methods Sixty-two children with prepubertal short stature and various GH secretory forms were analyzed retrospectively, 27 with complete growth hormone deficiency (cGHD), 23 with partial growth hormone deficiency (pGHD)and 12 with idiopathic short stature(ISS). According to the GH peak value in GH provocative test, the group of pGHD was divided into pGHD-1(5.0-6.9μg/L)and pGHD-2(7.0-9.9μg/L). Height velocity, increase in height standard differentiation score (SDS), was calculated; serum levels of somatotrophic axis hormone were detected and bone age was determined. Results The quick early catch-up growth in different groups were similar in the initial 6 months. While that in the ISS group persisted for shorter period and was correlated with lower level in serum GH-binding protein(r=0.526,P=0.025)and Δinsulin-like growth factor-binding protein-3 (IGFBP-3) SDS (r=0.532,P=0.034) after rhGH treatment. The same doses of rhGH were applied to children with cGHD and pGHD. Children with pGHD-1 showed similar response to rhGH,regarding height velocity and ΔIGFBP-3 SDS, as compared with those of cGHD. However, children with pGHD-2 presented similar response with ISS, being worse than cGHD. Conclusion Downregulation of GH receptor and decrease in post-receptor effect seem to be the mechanism leading to early retardation in ISS. The incomplete catch-up growth in pGHD-2 may be caused by relatively inadequate rhGH dose. The cut-off value of GH provocative test in diagnosing GHD is more reasonable to be 7μg/L.

Objective To study the effect on body mass index ( BMI ) caused by treatment with Gonadotropin-releasing hormone analogs ( GnRHa) in girls with central precocious puberty ( CPP) or early and fast puberty ( EFP ) . Methods The BMI in 318 girls ( 227 CPP and 91 EFP ) treated with GnRHa alone was analyzed. Among them 89 were followed up to their final adult height. Results Before GnRHa treatment was started, thegirlswithCPPandEFPhadameanBMIstandarddeviationscore(SDS)forchronologicalage(BMISDSCA)of0.39 ±0.84andforboneage(BMISDSBA)of-0.11±0.69. Attheendoftreatment,themeanBMISDSCAwas0.59±1.01 and BMISDSBA was 0. 24 ± 0. 89, both were significantly higher than those at initiation. The increment in BMISDSBA (0.38±0.50)wasgreaterthanthatinBMISDSCA(0.21±0.56). Moreover,theratioofoverweight(BMI>85%)was significantly elevated. BMISDSCA of 89 girls who were visited at their final adult height was 0. 17 ± 1. 15, which was similar with BMISDS at initiation and in normal population. Conclusion The mean BMISDSCA of CPP and EFP was significantly higher than the general population, while BMISDSBA was significantly lower. During GnRHa treatment, BMISDS tended to be elevated. But it was reversible, for the mean BMISDS was back to normal at final adult height.

[Objective] We assessed in a retrospective unicenter study the state of metabolism and gonadal axis of early menarche girls and girls who treated with Gonadotropin-releasing hormone analogs (GnRHa).[Methods] Thirty-nine early menarche girls and 58 girls who had been treated with GnRHa were enrolled in our study and 19 normal menarche girls were enrolled as control group.Data were collected in height,weight,gonadal hormone,blood glucose,insulin,blood lipid,leptin,adiponectin and the size of uterus and ovary.[Results] Both BMI SDS for chronological age (CA) and for bone age (BA) of early menarche girls were significantly higher than normal menarche girls (P ＜ 0.05).The ratio of insulin resistance in early menarche girls (20.5％) was also significantly higher than normal girls (0％).No significant difference in lipid metabolism and gonadal axis between two groups.In girls treated with GnRHa,BMISDS,insulin,HOMA-IR and the ratio of insulin resistance (20.7％) were all significantly higher than normal group (P ＜ 0.05).Meanwhile,DHEAS,androstenedione and testosterone of GnRHa treated girls were significantly higher than early menache girls,and DHEAS was higher than normal girls.The size of uterus in treated group was larger than the other two groups.[Conclusion] Early menarche and GnRHa treatment may take negative effect to BMI and glucose metabolism.Androgen was higher in GnRHa treated group.Therefore,suggestion was that BMI,insulin,blood glucose and androgen should be monitored in early menarche girls and girls treated with GnRHa.