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.
Humans ; Child ; Female ; Cerebellar Ataxia/diagnosis* ; Talipes Cavus ; Hearing Loss, Sensorineural/diagnosis* ; Optic Atrophy/diagnosis* ; Mutation ; Phenotype ; Sodium-Potassium-Exchanging ATPase/genetics* ; Foot Deformities, Congenital ; Reflex, Abnormal

The chloroplast genome encodes many key proteins involved in photosynthesis and other metabolic processes, and metabolites synthesized in chloroplasts are essential for normal plant growth and development. Root-UVB (ultraviolet radiation B)-sensitive (RUS) family proteins composed of highly conserved DUF647 domain belong to chloroplast proteins. They play an important role in the regulation of various life activities such as plant morphogenesis, material transport and energy metabolism. This article summarizes the recent advances of the RUS family proteins in the growth and development of plants such as embryonic development, photomorphological construction, VB6 homeostasis, auxin transport and anther development, with the aim to facilitate further study of its molecular regulation mechanism in plant growth and development.
Female ; Pregnancy ; Humans ; Ultraviolet Rays ; Biological Transport ; Chloroplasts/genetics* ; Embryonic Development ; Plant Development/genetics*

Objective To establish a rapid detection method for zika virus based on direct amplification re-al-time fluorescent quantitative reverse transcription polymerase chain reaction(RT-PCR)technique.Methods A direct amplification RT-PCR technique for the rapid detection of zika virus in 5 samples(whole blood,serum,saliva,throat swab and urine)was established by using a special function DNA polymerase and a preferred PCR enhancer.Results The detection limits of the 5 samples were 103 PFU/mL in serum,102 PFU/mL in urine,throat swab,and saliva,and 104 PFU/mL in whole blood.The coefficient of goodness-fit of stand-ard curves was above 0.98,and the amplification efficiency was 90％-110％.Zika virus nucleic acid was suc-cessfully amplified,but non-zika virus nucleic acid was not amplified.Based on the repeatable detection of sam-ples from urine,whole blood,and saliva,the variation coefficient of 6 repeated Ct values at 106 PFU/mL and 102 PFU/mL concentrations were all＜5％.The zika virus detection method established by the direct amplifi-cation RT-PCR technique was consistent with the detection results of conventional RT-PCR technique.Only two serum samples were detected in eight zika virus samples,and the remaining 62 non-zika virus samples and 12 negative samples were not amplified.Conclusion A rapid detection method for zika virus based on direct ampli-fication RT-PCR technique is successfully established.The method is simple,rapid,sensitive and specific.

Objective:To research the efficacy and safety of robotic thyroidectomy and bilateral modified radical neck dissection through bilateral axillo-breast approach (BABA) .Methods:We retrospectively analyzed the clinical data of 37 patients with thyroid cancer who received bilateral modified radical neck dissection through the BABA at the Department of Thyroid and Breast Surgery of the 960th Hospital of the People’s Liberation Army from Jan. 2014 to Jan. 2023. There were 24 females and 13 males, and the average age of the patients was (33,22±10.53) years old. The tumor diameter, number of lymph node dissection and metastasis in the central and lateral regions, average operation time, average hospital stay, complications, and aesthetic score were recorded. SPSS 25.0 software was used for statistical analysis, and the measurement data was calculated using mean ± standard deviation ( ± s), and the counting data was expressed in percentages and numbers. Results:A total of 37 thyroid cancer patients underwent robotic bilateral regional lymph node dissection. The 37 patients received total thyroidectomy, bilateral central compartment and cervical lateral regional lymph node dissection. All the pathological types were papillary carcinoma, with a maximal tumor diameter of (1.47±0.85) cm. The average number of central lymph nodes dissected was 19.46±8.84, and there were (10.24±5.95) metastases; The average number of lymph nodes removed from the bilateral cervical region was 38.92±14.21, and there were (7.92±5.84) metastases. The average operation time was (288.05±77.09) min, the average length of stay in the hospital was (10.76±3.92) days, and the average length of stay in the hospital following surgery was (8.03±2.08) days. These patients had no permanent hypoparathyroidism, permanent recurrent laryngeal nerve palsy, infection, accessory nerve injury and phrenic nerve injury after operation. Transient hypoparathyroidism occurred in 15 patients, transient recurrent laryngeal nerve palsy occurred in 1 patient, and chyle leak occurred in 2 patients. One month after surgery, the aesthetic score was 9.51±0.69.Two patients were found lymph node metastases during the (27.81±15.10) months of follow-up, and received robotic cervical lymph node dissection with BABA.Conclusion:For carefully chosen thyroid cancer patients with bilateral lateral cervical region lymph node metastases, robotic bilateral cervical lymph node regional dissection via BABA is safe and feasible, and good cosmetic results can be obtained.

Objective To evaluate the application efficacy of low-dose test method combined with variable helical pitch(VHP)technology in computed tomography angiography(CTA)of lower extremity arteries.Methods Eighty patients with CTA imaging of bilateral lower extremity arteries were selected and divided into group A and group B on average.VHP technology was used in group A,and conventional fixed pitch scanning was used in group B.The objective and subjective image quality of the two groups were compared,and the radiation dose and contrast agent dosage of the two groups were recorded and compared.Results The subjective image quality evaluation of group A was significantly better than that of group B,and the difference was statistically significant(Kappa test,P<0.05).In the objective image quality evaluation,the CT value and signal-to-noise ratio(SNR)value of the common iliac artery,popliteal artery and anterior tibial artery in group A were higher than those in group B at the same level,and the differences were statistically significant(P<0.05);The effective dose(ED)value in group A was(6.74±1.20)mSv,and that in group B was(7.93±1.78)mSv(P<0.05).The dosage of contrast agent in group A was significantly lower than that in group B[(73.97±12.15)mL in group A,(82.50±2.61)mL in group B](P<0.05).Conclusion Low-dose test method combined with VHP technology not only can reduce the radiation dose and contrast agent dosage,but also can effectively improve the success rate and image quality of lower extremity arteries examination,which is worthy of clinical application.

Objective:The purpose of this study was to analyze the clinical characteristics of auditory neuropathy (AN) patients with normal hearing or mild hearing loss.Methods:Data from Multicenter Study on Clinical Diagnosis and Intervention of Acoustic Neuropathy (registration number: ChiCTR2100050125). According to the Chinese clinical practice guideline of auditory neuropathy (version 2022), these patients divided into two groups: the normal hearing group (PTA Normal, PTA N group, the average hearing threshold<20 dB HL) and the mild hearing loss group (PTA Mild hearing loss, PTA M group, the average hearing threshold between 20-35 dBHL). The audiology characteristics, clinical features, and follow-up were analyzed. Data analysis was conducted using GraphPad Prism 8 and SPSS 20.0 software. Results:A total of 75 AN with normal hearing or mild hearing loss were included in this study. The PTA N group consisted of 19 patients (38 ears), including 12 males and 7 females. The average onset age was (16.9±4.5) years old, while the test age was (22.1±5.8) years old for PTA N group. The PTA M group consisted of 56 patients (112 ears), including 29 males and 27 females. The average onset age was (16.2±7.9) years old, while the test age was (23.9±9.0) yeas old for PTA M group. The average hearing threshold of low frequency (0.125-0.5 kHz) was significantly decreased. ABR disappeared in 86.00% (126/150) of the patients. The speech recognition rate was 71.80±22.44% in the PTA N group and 58.08±29.28% in the PTA M group.-SP/AP was 0.98±0.47 in the PTA N and 1.07±0.63 in PTA M group; 40 (53.33%) patients had tinnitus. 29 patients (58 ears) were followed up, including 10 patients (20 ears) in the PTA N group and 19 patients (38 ears) in the PTA M group. There was no significant change in hearing threshold in short-term follow-up (<3 years). With the extension of the disease duration (>3 years), the PTA N group tended to decrease at low frequency, and the PTA M group decreased at high frequency first. The hearing threshold at 0.25 kHz in the PTA N group and 4 kHz in the PTA M group decreased significantly. Conclusions:AN patients with normal hearing or mild hearing loss exhibit abnormal results in audiological examination results, including ABR, electrocochleography and speech discrimination score. A combination of audiological tests should be used to make the diagnosis of AN. With the progression of the disease, AN with normal hearing or mild hearing loss tends to decrease.

Objective:To investigate the short-term outcome of transoral robotic thyroidectomy.Methods:This is a retrospective case series study. The clinicopathologic characteristics and postoperative results of 107 patients who underwent transoral robotic thyroidectomies in the Department of Thyroid and Breast Surgery of the 960 th Hospital of People′s Liberation Army from May 2020 to August 2023 were retrospectively analyzed. There were 12 males and 95 females, with an age of (31.8±9.4) years (range: 11 to 55 years), including 20 benign tumors and 87 thyroid papillary carcinoma. Postoperative follow-up was carried out through returning visit and telephone, mainly to observe the recovery of postoperative complications, cosmetic effects and recurrence results. Results:All transoral robotic thyroidectomy was successfully completed without conversion to open surgery. The tumor size of thyroid papillary carcinoma patients was (5.6±2.7) mm (range: 2 to 15 mm). Furthermore, central cervical lymph node metastasis was found in 45 cases. The number of central cervical lymph nodes retrieved and metastasized ( M(IQR)) were 11 (8) (range: 3 to 26) and 1 (3) (range: 0 to 13), respectively. There was no recurrent laryngeal nerve injury and permanent hypoparathyroidism. The transient hypoparathyroidism after surgery was 8 cases. Other complications occurred as follows: postoperative infection ( n=1), left submandibular perforation ( n=1), skin scald ( n=1), and perioral numbness ( n=1), oral tear ( n=2). The postoperative stay was 6 (2) days (range: 3 to 11 days). No local lymph node recurrence or metastasis occurred after a follow-up of (22.6±10.0) months (range: 1.0 to 37.4 months). All patients were satisfied with the postoperative cosmetic results, the aesthetic effect score was 9.3 (0.2) (range: 8.4 to 9.6) one month after surgery. Conclusion:For highly screened patients with early thyroid cancer, experienced surgeons can perform a transoral robotic thyroidectomy that has excellent cosmetic results.

Objective:To investigate the short-term outcome of transoral robotic thyroidectomy.Methods:This is a retrospective case series study. The clinicopathologic characteristics and postoperative results of 107 patients who underwent transoral robotic thyroidectomies in the Department of Thyroid and Breast Surgery of the 960 th Hospital of People′s Liberation Army from May 2020 to August 2023 were retrospectively analyzed. There were 12 males and 95 females, with an age of (31.8±9.4) years (range: 11 to 55 years), including 20 benign tumors and 87 thyroid papillary carcinoma. Postoperative follow-up was carried out through returning visit and telephone, mainly to observe the recovery of postoperative complications, cosmetic effects and recurrence results. Results:All transoral robotic thyroidectomy was successfully completed without conversion to open surgery. The tumor size of thyroid papillary carcinoma patients was (5.6±2.7) mm (range: 2 to 15 mm). Furthermore, central cervical lymph node metastasis was found in 45 cases. The number of central cervical lymph nodes retrieved and metastasized ( M(IQR)) were 11 (8) (range: 3 to 26) and 1 (3) (range: 0 to 13), respectively. There was no recurrent laryngeal nerve injury and permanent hypoparathyroidism. The transient hypoparathyroidism after surgery was 8 cases. Other complications occurred as follows: postoperative infection ( n=1), left submandibular perforation ( n=1), skin scald ( n=1), and perioral numbness ( n=1), oral tear ( n=2). The postoperative stay was 6 (2) days (range: 3 to 11 days). No local lymph node recurrence or metastasis occurred after a follow-up of (22.6±10.0) months (range: 1.0 to 37.4 months). All patients were satisfied with the postoperative cosmetic results, the aesthetic effect score was 9.3 (0.2) (range: 8.4 to 9.6) one month after surgery. Conclusion:For highly screened patients with early thyroid cancer, experienced surgeons can perform a transoral robotic thyroidectomy that has excellent cosmetic results.

Objective:To investigate the clinical efficacy of extracorporeal shock wave (ESWT) combined with stretching training in the treatment of chronic plantar fasciitis.Methods:A prospective case-control study was conducted to include the patients with chronic plantar fasciitis who had been admitted to Department of Orthopaedic Trauma, Nanfang Hospital, Southern Medical University from June 2021 to June 2022. A SPSS random number generator was used to randomize the patients into an experimental group (receiving treatment with ESWT combined with stretching training) and a control group (receiving stretching training only). Shear wave elastography (SWE) was used to quantitatively evaluate the elastic modulus of the plantar fascia. The 2 groups were compared in terms of visual analogue scale (VAS) pain score, plantar fascia thickness, and elastic modulus of the plantar fascia in the patients at 12 weeks after treatment; the correlation between VAS pain score and elastic modulus of the plantar fascia was examined using Spearman analysis in the patients at 12 weeks after treatment.Results:This study included a total of 41 patients (52 feet), 20 males and 21 females with an age of (49.9±8.2) years. There were 16 left sides, 14 right sides and 11 bilateral sides affected. The course of the disease was 7.0 (6.0, 12.0) months. The 2 groups were comparable because there were no significant differences in the general data before treatment between them ( P>0.05). The VAS pain score at 12 weeks after treatment for the experimental group was 1.0 (1.0, 2.0) points, significantly lower than that for the control group [3.0 (2.0, 3.0) points] ( P<0.05). The elastic modulus of the plantar fascia at 12 weeks after treatment for the experimental group was (79.48 ± 17.65) kPa, significantly higher than that for the control group [(57.08 ± 14.16) kPa] ( P<0.05). However, there was no statistically significant difference between the 2 groups in the thickness of the plantar fascia at 12 weeks after treatment ( P>0.05). There was a significant correlation between VAS pain score and elastic modulus of the plantar fascia after 12 weeks of treatment ( r = -0.708, P<0.001). Conclusion:In the treatment of chronic plantar fasciitis, combination of ESWT and stretching training is more effective than stretching training only.

Objective:To observe the application of near-infrared autofluorescence imaging (NIRAF) technology combined with carbon nanoparticle (CNP) negative imaging in identification of parathyroid gland (PG) during thyroid carcinoma surgery.Methods:80 patients with thyroid cancer who underwent total thyroidectomy + central lymph node dissection performed by the same experienced physician team at the 960th Hospital of the PLA from Jan. to Mar. 2022 were prospectively included. Before operation, they were divided into two groups using random number table method before surgery: control group (40 cases) using CNP negative imaging, and experimental group (40 cases) using CNP negative imaging combined with NIRAF technique for intraoperative identification of PG. The gold standard for the identification of parathyroid glands was to compare the amount of intraoperative discovery retention misresection and transplantation of PG and the number of postoperative parathyroid hormone (PTH) and the number of complications in the two groups by immune colloidal gold technique. SPSS 25.0 software was used for statistical analysis.Results:All patients in the two groups were successfully operated and followed up. 137 149 PG were found and confirmed in the control group and the observation group, 108 132 PG were retained in situ and 29 17 PG were transplanted, the differences were statistically significant (all P <0.05) ; The number of A1 PG was 103 and 109, respectively. Among them, 84 102 were retained in situ and 19 7 were transplanted, the difference was statistically significant ( P <0.05) . There was no significant difference in the amount of A2 type PG and B type PG between the two groups ( P >0.05) . No A3 type PG was found in the two groups, and a total of 3 A3 types of PG were confirmed in postoperative pathological reports. There were no significant differences in misresection in the control group and the observation group, 5 and 2 PG were mistakenly cut, respectively (all P >0.05) . The PTH 1 day after surgery was 17.7 (5.6,30.4) pg/mL in the control group and 21.7 (12.8,38.3) pg/mL in the observation group, the difference was statistically significant ( P<0.05) . There were no significant differences in the levels of serum calcium and serum phosphorus 1 day after operation and PTH 1 month after surgery between the two groups (all P > 0.05) . Conclusion:Compared with CNP alone, combined with NIRAF technique can quickly and effectively identify PG, and PG can be better protected in situ and postoperative hypoparathyroidism can be reduced.