Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report / 临床耳鼻咽喉头颈外科杂志

CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.

Effects of ethanol and propylene glycol alone or in combination on the transdermal properties of triamcinolone acetonide spray solution / 药学实践杂志

Objective To conduct in vitro transdermal test on triamcinolone acetonide spray solution, and investigate the effects of ethanol and propylene glycol alone or in combination on the in vitro transdermal function of triamcinolone acetonide spray solution. Methods Rabbit abdominal skin was selected, and the in vitro penetration test of triamcinolone acetonide spray solution was carried out by Franz diffusion cell method, and the content of triamcinolone acetonide was determined by HPLC. The rate of transdermal absorption was compared. Results The transdermal absorption rate of the combined use of ethanol and propylene glycol was significantly higher than that of the single use (P<0.05), and the order of promoting the penetration of triamcinolone acetonide spray solution when ethanol and propylene glycol were combined by 10% ethanol + 25% propylene glycol >10% ethanol + 20% propylene glycol >15% ethanol + 25% propylene glycol >15% ethanol + 20% propylene glycol. Conclusion The combination of 10% ethanol and 25% propylene glycol could optimize the transdermal function of triamcinolone acetonide spray solution.

Efficacy observation of modified herringbone-Trendelenburg position in the laparoscopic anterior resection for rectal cancer / 中国实用护理杂志

Objective To explore the effects of modified herringbone-Trendelenburg position in the laparoscopic anterior resection for rectal cancer patients. Methods A total of 108 patients undergoing laparoscopic anterior resection were recruited and randomly assigned to observation group(54 cases) and control group (54 cases). Patients in the observation group were positioned in modified herringbone-Trendelenburg position, while the patients in the control group were placed in conventional Trendelenburg position. The data of heart rate (HR), mean arterial pressure (MAP) were recorded at 3minutes before body position change and 3 minutes after body position change, 3 minutes before recover horizontal position and 3 minutes after recover horizontal position. Intraocular pressure (IOP) were measured at 3 minutes after general anesthesia in supine position (T0), and 3 minutes after pneumoperitoneum while in the operation position (T1), every 1 hour (T2 to T3), 3 minutes before recover horizontal position at the end of pneumoperitoneum (T4), 3 minutes after recover horizontal position (T5) and 30 minutes after recover horizontal position(T6). Investigate the satisfaction of the surgeons regarding the surgical position of the patients.Followed up investigation at 24h and 48h after surgery were enforced to record the situation of the pain in the shoulder and postoperative complications of the lower limbs. Results The heart rate pre-and post the change of body position in observation group were (2.11±0.92), (-2.78±1.01) beats/min respectively, while the control group were (5.98±2.98), (-6.03±1.98) beats/min, the differences were statically significant (t=9.111,9.851, P<0.01).The mean arterial pressure pre-and post the change of body position in observation group were (1.67 ± 1.23), (2.21 ± 0.89) mmHg(1mmHg=0.133kPa) respectively, while the control group were (7.20±2.30), (6.41±1.87)mmHg, the differences were statically significant(t=15.512, 14.811, P<0.01).The differences of intra-ocular pressure between 2 groups had no statistical significance at T0 and T6 (P>0.05). The intra-ocular pressure were (13.64±1.66), (16.56±1.82),(19.78±1.70),(21.00±1.71),(18.53±1.77)mmHg respectively from T1 to T5, lower than that of control group (15.59±2.03),(19.40±1.89), (23.22±2.15), (25.38±2.09), (22.35±1.76)mmHg, the differences were statically significant (t=5.442-11.907, P<0.01).The incidence of shoulder pain and low leg pain in observation group were 9.26％(5/54), 7.41％(4/54) respectively, lower than that of control group 46.29％(25/54),31.48％(17/54), the differences were statically significant (t=17.778,9.755,P<0.01). The scores of shoulder pain and low leg pain in observation group were (1.38±0.38), (2.02±0.34) points, lower than that of control group (4.44 ± 0.48), (3.85 ± 0.57) points, the differences were statically significant (t=36.761, 20.162, P<0.01). The satisfaction rate of surgeons was 87.04％(47/54) in the observation group, higher than that in the control group 55.56％ (30/54), the difference was statically significant (χ2=5.119, P=0.024). Conclusion Modified herringbone-Trendelenburg position can maintain the circulatory system stability better without affecting the operation, reduce the elevation of IOP, effectively improve the comfort of the operation position of the patients,reduce the postoperative complications of the lower limbs and the incidence rate of the shoulder pain in the laparoscopic anterior resection for rectal cancer patients.

The Auditory Brainstem Response in Normal Adult Mice of Different Strains / 听力学及言语疾病杂志

Objective To study the auditory brainstem response (ABR) of normal adult CBA,C57BL,Kunming and 129 mice and analyze the ABR thresholds and latencies in order to obtain normal values and standardized testing process,thereby providing important reference for future auditory hearing research in mouse.Methods Six -week-old normal mice of CBA,C57BL,Kunming and 129(each strain containing 20 ears of 20 mice) were used in this study.ABR test with both the click and tone burst were carried on.The incidence of each wave and the thresholds and latencies of various strains of mice were recorded.Results For these four strains of mice,wave Ⅱ had the highest occurrence rate and was used to determine the thresholds.Four strains of mice all were sensitive to the sound at 8,12,16 kHz,most to 12 kHz.Under anesthesia condition,the latency of each ABR wave prolonged as testing time increase,especially the waves Ⅲ ～ V which reflected the functions of the part near the cerebral center.Conclusion Under anesthesia state,for these four strains of mice,wave Ⅱ has the highest occurrence rate and is used to determine the threshold.We determine the intensity level at which Wave Ⅱ just appeared as the ABR threshold.The stain of CBA mice is the best one to establish an animal model related to hearing function research because ABR of the other three strains are not stable as the CBA mice.Wave SP can reflect the hair cell functions indirectly.

The Wave Analysis of Auditory Brainstem Responses in Normal Adult Wistar Rat / 听力学及言语疾病杂志

Objective To investigate the click and tone burst evoked auditory brainstem responses (ABR)in normal Wistar rat,and to establish the standards of ABR testing method,and to provide a reference for studies rat audition.Methods Fifteen male Wistar rats(30 ears)were used in this sutdy.The latency and amplitude of ABR e-voked by click and TB at 80,50 and 20 dB SPL were measured.Results The occurrence rate of wave Ⅱand Ⅳat low levels(20 dB SPL)was nearly the same according to the amplitude.The cABR (dB peSPL)threshold was 21.83± 4.45 and tbABR (dB SPL)thresholds were 2.02±0.09,2.88±0.16,3.77±0.25,4.69±0.29,and 5.78±0.41, respectively.80 dB stimulus evoked cABR (peSPL)wave I,I b,II,III,IV and V latency (ms)were 1.76±0.12, 2.13±0.11,2.67±0.16,3.49±0.28,4.39±0.29,and 5.45±0.41,respectively.tbABR (SPL)of wave I,Ib, II,III,IV and V latency (ms)at 4 kHz were 2.02±0.09,2.88±0.16,3.77±0.25,4.69±0.29,and 5.78± 0.41,respectively.At 8 kHz they were 1.76±0.07,2.28±0.10,2.63±0.16,3.49±0.21,4.44±0.28,and 5.48±0.43;while at 12 kHz were1.76±0.08,2.24±0.12,2.61±0.25,3.53±0.25,4.46±0.32,and 5.52± 0.45;at 16 kHz were 1.79±0.10,2.25±0.12,2.70±0.18,3.62±0.27,4.52±0.37,and 5.61±0.49;at 24 kHz were 1.75±0.09,2.27±0.11,2.67±0.16,3.60±0.27,4.52±0.38,and 5.60±0.51;at 32 kHz were 1.77±0.10,2.24±0.12,2.64±0.20,3.59±0.34,4.52±0.40,and 5.61±0.52,respectively.Conclusion Wave Ⅳ was the best wave to determine threshold of click and tone burst evoked auditory brainstem response in rat.

Prognostic factors of sudden sensorineural hearing loss in children / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#The aim of this retrospective study was to analyze the recovery rate of sudden sensorineural hearing loss in children, and explore the prognostic factors in order to guide the clinical diagnosis and treatment.@*METHOD@#A retrospective review was conducted for the prognosis of children with sudden sensorineural hearing loss during the past 5 years (from November 2010 to May 2015) in Chinese PLA General Hospital. This paper have a complete clinical data of 101 patients (113 ears)with sudden hearing loss, ranging from 0 to 18 years old Patients were divided into four groups according to hearing recovery and eight putative prognostic factors were analyzed.@*RESULT@#Among 101 patients (113 ears), the ratio of male and female was 60:53. Treatment was initiated from 1 to 183 days after disease onset, with an average of (18.5 ± 22.1) d. Bilateral and unilateral hearing loss were 24 ears and 89 ears, respectively. The proportion of mild hearing loss, moderate hearing loss, severe hearing loss and profound hearing loss were 7.1%, 6.2%, 23.9% and 62.8%, respectively. Vertigo and tinnitus occurred in 54.9% and 77.9% of the patients, respectively. After the treatment, the complete recovery rate was 9.7% and the overall recovery rate was 36.3%. The degree of hearing loss, earlier treatment onset, sex and bilateral involvement were significantly associated with hearing recovery (P < 0.05).@*CONCLUSION@#Sudden sensorineural hearing loss in children was generally identified as severe and profound hearing loss, but after positive and timely treatment, it can be improved or even cured. The mild hearing loss, earlier treatment onset, unilateral hearing loss and female were positive prognostic factors. The concurrence of tinnitus or vertigo, the results of ABR and DPOAE had no significant influence on prognosis.

Perioperative nursing of patients undergoing resection of rectal neoplasms with transanal endoscopic microsurgery / 现代临床护理

Objective To introduce the application and the surgical cooperation of the transanal endoscopic microsurgery in resection of rectal neoplasms and summarize the nursing points.Method The clinical histories of 135 patients undergoing resection of rectal neoplasms with transanal endoscopic microsurgery were reviewed and analyzed.Results All the surgeries were successful. Four patients developed with wound infections,three of them getting better after treatment and one of them diagnosed with poorly differentiated adenocarcinoma and selected another operation.Conclusion Well-prepared、pre-operation,skillful operation and instrument procedure and postoperative nursing were critical to the success of operations.