[A case of mild Zellweger spectrum disorder first diagnosed as Usher syndrome].

A 5-year-old female patient, presented with"night blindness and poor hearing for 1 year"whose first diagnosis was Usher syndrome due to retinitis pigmentosa accompanied by sensorineural deafness. Compound heterozygous variants (c.5G>A, p.W2*/c.3022C>T, p.P1008S) of PEX1, the causative gene for Zellweger spectrum disorder was confirmed by targeted exome sequencing analysis. Permanent tooth enamel dysplasia, nail leukoplakia, and biochemical abnormalities of peroxisome which is consistent with mild Zellweger spectrum disorder were found when she followed up.

[CT study on the development of facial nerve canal in children].

Objective: To assess the characteristics of facial nerve canal between normal anatomy and dysplasia of children in different ages. Methods: A total of 492 health ears were divided into six groups, neonatal group (<1 m , n=42), infancy group(1 m-1 y, n=106), toddler group(1-3 y, n=102), preschool group (3-6 y, n=100), school group(6-10 y, n=60)and adolescent group (10-14 y, n=82). The length and diameter of facial nerve canal and that angles of first and second genu were measured with CT in each group. Results: ①The lengths of facial nerve canal in neonatal and infancy group were shorter than other four groups, especially in the mastoid segments of facial nerve canal. The lengths of mastoid segments in neonatal, infancy, toddler, preschool, school and adolescent groups were 5.03±0.84, 6.25±1.40, 8.34±1.38, 9.70±1.34, 10.84±1.41 and 12.17±1.83 mm, with P<0.05, respectively. After school age, the lengths of labyrinthine and tympanic segment grew slowly or developed completely (P>0.05). ② The diameter of labyrinth and tympanic segment in neonatal group were narrower than other five groups (P<0.05), but no significant difference among them in other groups (P>0.05). ③The dysplasia of facial nerve canal were occurred on 978 locations. Among them, the percentage of dehiscence, aberrance, partially expanding and bifurcation were 72.9%(713/978), 5.1%(50/978), 18.9%(185/978) and 3.1%(30/978) respectively. The percentage of dehiscence in geniculate fossa segment was decreased significantly with age (neonatal group 85.7%(36/42), infancy group 59.4%(63/106), toddler group 39.2%(40/102), preschool group 33%(33/100), school group 30%(18/60)and adolescent group 26.8%(22/82), with P<0.05). Except the dehiscence of geniculate fossa and mastoid segment, there was no significant difference in the occurrence rate of the other variants (P>O.05). Conclusions: The growth of length and dehiscence in labyrinth segment of facial nerve canal are significant in difference ages. The changes of diameter and angles of first and second genu in facial nerve canal, and the rate of other dysplasia are individual.

Use of deep laryngeal oxygen insufflation during laryngoscopy in children: a randomized clinical trial.

BACKGROUND: Brief periods of haemoglobin oxygen desaturation are common in children during induction of general anaesthesia. We tested the hypothesis that oxygen insufflation during intubation slows desaturation. METHODS: Patients 1-17 yr old undergoing nasotracheal intubation were enrolled and randomly assigned to one of three groups: standard direct laryngoscopy (DL); laryngoscopy with Truview PCD videolaryngoscope (VLO2); or laryngoscopy with an oxygen cannula attached to the side of a standard laryngoscope (DLO2). The co-primary outcomes were time to 1% reduction in [Formula: see text] from baseline, and the slope of overall desaturation vs time. All three groups were compared against each other. RESULTS: Data from 457 patients were available for the final analysis: 159 (35%) DL; 145 (32%) DLO2; and 153 (33%) VLO2. Both VLO2 and DLO2 were superior to DL in both time to a 1% reduction in [Formula: see text] from baseline and the overall rate of desaturation (all P<0.001). The 25th percentile (95% confidence interval) of time to a 1% saturation decrease was 30 (24, 39) s for DL, 67 (35, 149) s for DLO2 and 75 (37, 122) s for VLO2. Mean desaturation slope was 0.13 (0.11, 0.15)% s(-1) for DL, 0.04 (0.02, 0.06)% s(-1) for DLO2 and 0.03 (0.004, 0.05)% s(-1) for VLO2. We did not find a correlation between decrease in [Formula: see text] percentage and BMI or age. CONCLUSIONS: Laryngeal oxygen insufflation increases the time to 1% desaturation and reduces the overall rate of desaturation during laryngoscopy in children. CLINICAL TRIAL REGISTRATION: NCT01886807.

[A clinical analysis for sudden sensorineural hearing loss withcontralateral sensorineural hearing loss].

Objective:To analyze the clinical characteristics and prognosis,and to learn the impact factors of patients with sudden sensorineural hearing loss with contralateral sensorineural hearing loss(SSHLwCSHL).Method:Clinical data of 63 cases of patients with SSHLwCSHL were analyzed systematically,including all the clinical manifestations,audiologic characteristics and the effect assessment,and compared with that of unilateral sudden sensorineural hearing loss(USSHL) and bilateral sudden sensorineural hearing loss(BSSHL).Base on those,we summarized comprehensively the development and prognosis characteristics of the disease.Result:The incidence of SSHLwCSHL was 8.3 percent of overall patients with SSNHL.SSHLwCSHL occurs more commonly in male patients,with more vertigo,diabetes mellitus,and lipid panel abnormalities compared with other groups.Hearing curve and the degree of hearing loss of the prevalence ear of SSHLwCSHL was statistically significant difference with USSHL(P<0.05).Most common reason of the contralateral hearing loss was sudden sensorineural hearing loss(49%),and 59% patients of SSHLwCSHL suffered hearing loss of other ear after 2-10 years after contralateral hearing loss.The total effective rate was 14.3%,1 in 63 patients cured,1 excellence and 6 effective.The total effective rate was 9.5% in patients with severe or profound sensorineural hearing loss in the contralateral ear,which was lower than that of patients with moderate and moderately severe sensorineural hearing loss in the contralateral-ear(P=0.021).Conclusion:SSHLwCSHL has complex condition.The prognosis for improvement is poor.Recognition of similarities and differences between bilateral and unilateral SSNHL can help in counseling and managing the patients.

[The characteristics of the patients with BPPV accompanied byidiopathic sudden sensorineural hearing loss].

Objective:To investigate the characteristics of the patients with BPPV accompanied by idiopathic sudden sensorineural hearing loss(ISSNHL).Method:Retrospective analysis of 150 cases of patients with ISSNHL.All data of the cases were collected,including history,pure tone audiograms and VNG tests.Result:16.0% of all patients had BPPV accompanied by ISSNHL.77.8% of these patients had an abnormal caloric test result.73.9% of them had a profound hearing loss.The hearing outcome between those with and without BPPV had no significant difference.Conclusion:Patients with BPPV accompanied by ISSNHL seem to have a more severe damage than those without BPPV,while the hearing outcomes seem no significant difference between them.

[A clinical study into the vestibular function and therapy of patients with chronic positional symptoms after acute vestibular syndrome].

Objective:To investigate the status of the vestibular function of the patients with chronic positional symptoms after peripheral acute vestibular syndrome (AVS) and the curative effect of the vestibular rehabilitation therapy (VRT). Method:Using caloric test (CT), head shaking nystagmus test (HST), cervical vestibular evoked myogenic potentials as well as ocular vestibular evoked myogenic potentials to estimate the function of semicircular canal and otolith organs. The patients with normal VEMPs are divided as Group A. Otherwise are as Group B. Both groups are treated with VRT. The curative effect is estimated by vestibular symptom index (VSI) and Berg balance scale (BBS). Result:Thirty-three of 37 patients (86.5%) had an abnormal result of CT and HST, with 23 of these patients (65.7%) had an abnormal of both test. Twenty-two patients (59.5%) were in Group A and 15 (40.5%) in Group B. Before the therapy, Group B had a higher score of the balance and dizziness symptoms of VSI (P<0.05), and Group A had a higher score of the BBS (P<0.05). After the therapy, the VSI scores of both groups dropped and scores of the BBS raised. Conclusion:Patients with chronic positional symptoms after peripheral AVS have dynamic vestibular lesions to different extents. Those with otolith organs lesions tend to have a worse function of balance. Nevertheless, patients have a better off after VRT.

An improved low racemization solid-phase method for the synthesis of reduced dipeptide (psi CH2NH) bond isosteres.

Preparation of peptides containing a reduced bond isostere reveals that the solid-phase procedure introduced by D.H. Coy is prone to generate significant levels of peptide diastereomers. A systematic study was conducted analyzing reaction conditions and reagents for causes of this epimerization. These studies show that trapping of the intermediate imine is the major contributor to generation of peptide diastereomers in the final product. These studies also suggest that careful adjustments of solvent and pH are necessary to suppress epimerization. Thus, an improved solid-phase procedure has been devised that efficiently traps the intermediate imine, resulting in extremely low levels of peptide diastereomers. These improved procedures have been successfully used in synthesis from 0.25 mmol to > 50 mmol batch sizes.